Item | Value |
---|---|
geneid | 2034 |
ensemblid | ENSG00000116016.14 |
hgncid | 3374 |
symbol | EPAS1 |
name | endothelial PAS domain protein 1 |
refseq_nuc | NM_001430.5 |
refseq_prot | NP_001421.2 |
ensembl_nuc | ENST00000263734.5 |
ensembl_prot | ENSP00000263734.3 |
mane_status | MANE Select |
chr | chr2 |
start | 46297407 |
end | 46386697 |
strand | + |
ver | v1.2 |
region | chr2:46297407-46386697 |
region5000 | chr2:46292407-46391697 |
regionname0 | EPAS1_chr2_46297407_46386697 |
regionname5000 | EPAS1_chr2_46292407_46391697 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 1/1 | 870 | 252 | 46 | 55 | 100 | 16 | 33 | 75 | EPAS1_chr2_46292407_46391697 | EPAS1 | MTADK others(865): Show |
chr2 | 46292407 | 46391697 |
a0002 | 0/0 | 870 | 48 | 25 | 0 | 21 | 0 | 2 | 18 | EPAS1_chr2_46292407_46391697 | EPAS1 | MTADK others(865): Show |
chr2 | 46292407 | 46391697 |
a0003 | 0/0 | 870 | 21 | 18 | 3 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | MTADK others(865): Show |
chr2 | 46292407 | 46391697 |
a0004 | 0/0 | 870 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | MTADK others(865): Show |
chr2 | 46292407 | 46391697 |
a0005 | 0/0 | 870 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | MTADK others(865): Show |
chr2 | 46292407 | 46391697 |
a0006 | 0/0 | 870 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | MTADK others(865): Show |
chr2 | 46292407 | 46391697 |
a0007 | 0/0 | 870 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | MTADK others(865): Show |
chr2 | 46292407 | 46391697 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 1/1 | 2610 | 245 | 44 | 52 | 99 | 15 | 33 | EPAS1_chr2_46292407_46391697 | EPAS1 | ATGAC others(2605): Show |
chr2 | 46292407 | 46391697 | ||
a0001c0005 | 0/0 | 2610 | 2 | 0 | 1 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ATGAC others(2605): Show |
chr2 | 46292407 | 46391697 | ||
a0001c0006 | 0/0 | 2610 | 2 | 1 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ATGAC others(2605): Show |
chr2 | 46292407 | 46391697 | ||
a0001c0010 | 0/0 | 2610 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ATGAC others(2605): Show |
chr2 | 46292407 | 46391697 | ||
a0001c0011 | 0/0 | 2610 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ATGAC others(2605): Show |
chr2 | 46292407 | 46391697 | ||
a0001c0016 | 0/0 | 2610 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ATGAC others(2605): Show |
chr2 | 46292407 | 46391697 | ||
a0002c0002 | 0/0 | 2610 | 45 | 23 | 0 | 21 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | ATGAC others(2605): Show |
chr2 | 46292407 | 46391697 | ||
a0002c0013 | 0/0 | 2610 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | ATGAC others(2605): Show |
chr2 | 46292407 | 46391697 | ||
a0002c0014 | 0/0 | 2610 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ATGAC others(2605): Show |
chr2 | 46292407 | 46391697 | ||
a0002c0015 | 0/0 | 2610 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ATGAC others(2605): Show |
chr2 | 46292407 | 46391697 | ||
a0003c0003 | 0/0 | 2610 | 12 | 10 | 2 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ATGAC others(2605): Show |
chr2 | 46292407 | 46391697 | ||
a0003c0004 | 0/0 | 2610 | 9 | 8 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ATGAC others(2605): Show |
chr2 | 46292407 | 46391697 | ||
a0004c0007 | 0/0 | 2610 | 2 | 2 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ATGAC others(2605): Show |
chr2 | 46292407 | 46391697 | ||
a0005c0009 | 0/0 | 2610 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | ATGAC others(2605): Show |
chr2 | 46292407 | 46391697 | ||
a0006c0012 | 0/0 | 2610 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ATGAC others(2605): Show |
chr2 | 46292407 | 46391697 | ||
a0007c0008 | 0/0 | 2610 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ATGAC others(2605): Show |
chr2 | 46292407 | 46391697 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/1 | 5153 | 148 | 21 | 26 | 69 | 8 | 23 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5148): Show |
chr2 | 46292407 | 46391697 |
a0001c0001t0002 | 1/0 | 5155 | 26 | 1 | 8 | 7 | 5 | 4 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5150): Show |
chr2 | 46292407 | 46391697 |
a0001c0001t0003 | 0/0 | 5153 | 11 | 0 | 1 | 10 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5148): Show |
chr2 | 46292407 | 46391697 |
a0001c0001t0004 | 0/0 | 5157 | 13 | 6 | 1 | 4 | 0 | 2 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5152): Show |
chr2 | 46292407 | 46391697 |
a0001c0001t0005 | 0/0 | 5154 | 5 | 3 | 2 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5149): Show |
chr2 | 46292407 | 46391697 |
a0001c0001t0007 | 0/0 | 5154 | 10 | 1 | 2 | 5 | 1 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5149): Show |
chr2 | 46292407 | 46391697 |
a0001c0001t0008 | 0/0 | 5154 | 4 | 3 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5149): Show |
chr2 | 46292407 | 46391697 |
a0001c0001t0010 | 0/0 | 5153 | 4 | 0 | 3 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5148): Show |
chr2 | 46292407 | 46391697 |
a0001c0001t0011 | 0/0 | 5154 | 2 | 2 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5149): Show |
chr2 | 46292407 | 46391697 |
a0001c0001t0012 | 0/0 | 5155 | 2 | 0 | 2 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5150): Show |
chr2 | 46292407 | 46391697 |
a0001c0001t0016 | 0/0 | 5153 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5148): Show |
chr2 | 46292407 | 46391697 |
a0001c0001t0017 | 0/0 | 5153 | 2 | 1 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5148): Show |
chr2 | 46292407 | 46391697 |
a0001c0001t0018 | 0/0 | 5154 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5149): Show |
chr2 | 46292407 | 46391697 |
a0001c0001t0022 | 0/0 | 5155 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5150): Show |
chr2 | 46292407 | 46391697 |
a0001c0001t0023 | 0/0 | 5153 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5148): Show |
chr2 | 46292407 | 46391697 |
a0001c0001t0024 | 0/0 | 5153 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5148): Show |
chr2 | 46292407 | 46391697 |
a0001c0001t0025 | 0/0 | 5153 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5148): Show |
chr2 | 46292407 | 46391697 |
a0001c0001t0026 | 0/0 | 5153 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5148): Show |
chr2 | 46292407 | 46391697 |
a0001c0001t0027 | 0/0 | 5153 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5148): Show |
chr2 | 46292407 | 46391697 |
a0001c0001t0028 | 0/0 | 5153 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5148): Show |
chr2 | 46292407 | 46391697 |
a0001c0001t0030 | 0/0 | 5158 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5153): Show |
chr2 | 46292407 | 46391697 |
a0001c0001t0034 | 0/0 | 5155 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5150): Show |
chr2 | 46292407 | 46391697 |
a0001c0001t0035 | 0/0 | 5153 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5148): Show |
chr2 | 46292407 | 46391697 |
a0001c0001t0036 | 0/0 | 5155 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5150): Show |
chr2 | 46292407 | 46391697 |
a0001c0001t0037 | 0/0 | 5156 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5151): Show |
chr2 | 46292407 | 46391697 |
a0001c0001t0038 | 0/0 | 5153 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5148): Show |
chr2 | 46292407 | 46391697 |
a0001c0001t0040 | 0/0 | 5155 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5150): Show |
chr2 | 46292407 | 46391697 |
a0001c0001t0041 | 0/0 | 5155 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5150): Show |
chr2 | 46292407 | 46391697 |
a0001c0001t0044 | 0/0 | 5153 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5148): Show |
chr2 | 46292407 | 46391697 |
a0001c0005t0001 | 0/0 | 5153 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5148): Show |
chr2 | 46292407 | 46391697 |
a0001c0005t0018 | 0/0 | 5154 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5149): Show |
chr2 | 46292407 | 46391697 |
a0001c0006t0029 | 0/0 | 5153 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5148): Show |
chr2 | 46292407 | 46391697 |
a0001c0006t0039 | 0/0 | 5154 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5149): Show |
chr2 | 46292407 | 46391697 |
a0001c0010t0016 | 0/0 | 5153 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5148): Show |
chr2 | 46292407 | 46391697 |
a0001c0011t0001 | 0/0 | 5153 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5148): Show |
chr2 | 46292407 | 46391697 |
a0001c0016t0005 | 0/0 | 5154 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5149): Show |
chr2 | 46292407 | 46391697 |
a0002c0002t0001 | 0/0 | 5153 | 22 | 7 | 0 | 14 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5148): Show |
chr2 | 46292407 | 46391697 |
a0002c0002t0003 | 0/0 | 5153 | 7 | 0 | 0 | 7 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5148): Show |
chr2 | 46292407 | 46391697 |
a0002c0002t0004 | 0/0 | 5157 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5152): Show |
chr2 | 46292407 | 46391697 |
a0002c0002t0005 | 0/0 | 5154 | 6 | 6 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5149): Show |
chr2 | 46292407 | 46391697 |
a0002c0002t0014 | 0/0 | 5153 | 2 | 2 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5148): Show |
chr2 | 46292407 | 46391697 |
a0002c0002t0015 | 0/0 | 5154 | 2 | 2 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5149): Show |
chr2 | 46292407 | 46391697 |
a0002c0002t0019 | 0/0 | 5158 | 2 | 2 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5153): Show |
chr2 | 46292407 | 46391697 |
a0002c0002t0020 | 0/0 | 5155 | 2 | 2 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5150): Show |
chr2 | 46292407 | 46391697 |
a0002c0002t0043 | 0/0 | 5155 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5150): Show |
chr2 | 46292407 | 46391697 |
a0002c0013t0001 | 0/0 | 5153 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5148): Show |
chr2 | 46292407 | 46391697 |
a0002c0014t0005 | 0/0 | 5154 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5149): Show |
chr2 | 46292407 | 46391697 |
a0002c0015t0031 | 0/0 | 5154 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5149): Show |
chr2 | 46292407 | 46391697 |
a0003c0003t0006 | 0/0 | 5154 | 9 | 8 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5149): Show |
chr2 | 46292407 | 46391697 |
a0003c0003t0009 | 0/0 | 5155 | 2 | 1 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5150): Show |
chr2 | 46292407 | 46391697 |
a0003c0003t0033 | 0/0 | 5155 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5150): Show |
chr2 | 46292407 | 46391697 |
a0003c0004t0006 | 0/0 | 5154 | 2 | 2 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5149): Show |
chr2 | 46292407 | 46391697 |
a0003c0004t0008 | 0/0 | 5154 | 2 | 2 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5149): Show |
chr2 | 46292407 | 46391697 |
a0003c0004t0009 | 0/0 | 5155 | 3 | 2 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5150): Show |
chr2 | 46292407 | 46391697 |
a0003c0004t0021 | 0/0 | 5155 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5150): Show |
chr2 | 46292407 | 46391697 |
a0003c0004t0032 | 0/0 | 5154 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5149): Show |
chr2 | 46292407 | 46391697 |
a0004c0007t0013 | 0/0 | 5153 | 2 | 2 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5148): Show |
chr2 | 46292407 | 46391697 |
a0005c0009t0004 | 0/0 | 5157 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5152): Show |
chr2 | 46292407 | 46391697 |
a0006c0012t0001 | 0/0 | 5153 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5148): Show |
chr2 | 46292407 | 46391697 |
a0007c0008t0042 | 0/0 | 5154 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | ACACT others(5149): Show |
chr2 | 46292407 | 46391697 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0002 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0004 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0005 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0007 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0063 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0068 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0069 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0070 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0072 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0075 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0077 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0078 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0082 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0083 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0084 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0085 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0095 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0100 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0101 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0102 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0105 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0106 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0113 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0121 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0123 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0129 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0130 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0134 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0135 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0146 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0155 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0162 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0163 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0165 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0178 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0207 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0209 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0217 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0219 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0221 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0224 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0225 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0227 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0229 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0239 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0240 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0241 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0244 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0245 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0246 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0247 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0249 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0252 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0253 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0254 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0255 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0261 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0262 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0263 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0264 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0265 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0266 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0267 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0269 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0270 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0273 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0274 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0276 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0278 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0279 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0281 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0282 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0284 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0292 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0293 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0295 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0297 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0298 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0301 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0302 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0306 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0309 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0311 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0312 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0313 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0314 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0001g0316 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0002g0009 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0002g0013 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0002g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0002g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0002g0061 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0002g0062 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0002g0074 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0002g0079 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0002g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0002g0097 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0002g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0002g0110 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0002g0116 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0002g0118 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0002g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0002g0124 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0002g0128 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0002g0131 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0002g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0002g0237 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0002g0256 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0002g0257 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0002g0272 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0002g0303 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0002g0310 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0003g0008 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0003g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0003g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0003g0242 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0003g0250 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0003g0258 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0003g0268 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0003g0275 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0003g0288 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0003g0299 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0004g0012 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0004g0043 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0004g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0004g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0004g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0004g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0004g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0004g0180 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0004g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0004g0248 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0004g0277 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0004g0280 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0004g0305 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0005g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0005g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0005g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0005g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0005g0187 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0007g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0007g0132 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0007g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0007g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0007g0223 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0007g0226 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0007g0238 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0007g0285 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0007g0287 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0007g0308 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0008g0001 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0008g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0008g0235 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0010g0003 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0010g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0010g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0011g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0011g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0012g0096 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0012g0111 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0016g0127 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0017g0230 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0017g0300 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0018g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0022g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0023g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0024g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0025g0098 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0026g0286 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0027g0086 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0028g0271 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0030g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0034g0290 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0035g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0036g0186 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0037g0184 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0038g0283 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0040g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0041g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0001t0044g0216 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0005t0001g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0005t0018g0183 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0006t0029g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0006t0039g0034 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0010t0016g0307 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0011t0001g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0001c0016t0005g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0002t0001g0006 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0002t0001g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0002t0001g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0002t0001g0103 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0002t0001g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0002t0001g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0002t0001g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0002t0001g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0002t0001g0154 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0002t0001g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0002t0001g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0002t0001g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0002t0001g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0002t0001g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0002t0001g0179 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0002t0001g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0002t0001g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0002t0001g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0002t0001g0236 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0002t0001g0289 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0002t0001g0291 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0002t0003g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0002t0003g0231 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0002t0003g0232 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0002t0003g0233 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0002t0003g0251 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0002t0003g0259 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0002t0003g0260 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0002t0004g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0002t0005g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0002t0005g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0002t0005g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0002t0005g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0002t0005g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0002t0005g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0002t0014g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0002t0014g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0002t0015g0189 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0002t0015g0296 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0002t0019g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0002t0019g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0002t0020g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0002t0020g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0002t0043g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0013t0001g0315 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0014t0005g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0002c0015t0031g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0003c0003t0006g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0003c0003t0006g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0003c0003t0006g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0003c0003t0006g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0003c0003t0006g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0003c0003t0006g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0003c0003t0006g0193 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0003c0003t0006g0294 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0003c0003t0006g0304 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0003c0003t0009g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0003c0003t0009g0317 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0003c0003t0033g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0003c0004t0006g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0003c0004t0006g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0003c0004t0008g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0003c0004t0008g0222 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0003c0004t0009g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0003c0004t0009g0024 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0003c0004t0009g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0003c0004t0021g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0003c0004t0032g0173 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0004c0007t0013g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0004c0007t0013g0175 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0005c0009t0004g0228 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0006c0012t0001g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
a0007c0008t0042g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00099 | hp1 | a0001 | c0001 | t0001 | g0105 | EUR | GBR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG00099 | hp2 | a0001 | c0005 | t0018 | g0183 | EUR | GBR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG00140 | hp1 | a0001 | c0001 | t0002 | g0062 | EUR | GBR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG00140 | hp2 | a0001 | c0001 | t0001 | g0252 | EUR | GBR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG00280 | hp1 | a0001 | c0001 | t0044 | g0216 | EUR | FIN | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG00280 | hp2 | a0001 | c0001 | t0002 | g0116 | EUR | FIN | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG00323 | hp1 | a0001 | c0001 | t0001 | g0095 | EUR | FIN | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG00323 | hp2 | a0001 | c0001 | t0001 | g0224 | EUR | FIN | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG00408 | hp1 | a0002 | c0002 | t0001 | g0117 | EAS | CHS | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG00408 | hp2 | a0001 | c0001 | t0001 | g0150 | EAS | CHS | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG00544 | hp1 | a0001 | c0001 | t0001 | g0240 | EAS | CHS | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG00544 | hp2 | a0001 | c0001 | t0001 | g0214 | EAS | CHS | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG00621 | hp1 | a0001 | c0001 | t0001 | g0246 | EAS | CHS | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG00621 | hp2 | a0001 | c0001 | t0001 | g0172 | EAS | CHS | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG00639 | hp1 | a0001 | c0001 | t0002 | g0094 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG00639 | hp2 | a0001 | c0001 | t0002 | g0074 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG00642 | hp1 | a0001 | c0001 | t0001 | g0255 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG00642 | hp2 | a0001 | c0001 | t0001 | g0102 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG00673 | hp1 | a0001 | c0001 | t0038 | g0283 | EAS | CHS | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG00673 | hp2 | a0001 | c0001 | t0010 | g0191 | EAS | CHS | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG00735 | hp1 | a0001 | c0001 | t0001 | g0065 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG00735 | hp2 | a0001 | c0001 | t0001 | g0135 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG00738 | hp1 | a0001 | c0001 | t0005 | g0030 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG00738 | hp2 | a0001 | c0001 | t0001 | g0311 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG00741 | hp1 | a0001 | c0010 | t0016 | g0307 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG00741 | hp2 | a0001 | c0001 | t0004 | g0043 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01071 | hp1 | a0001 | c0001 | t0001 | g0113 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01071 | hp2 | a0001 | c0001 | t0001 | g0090 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01074 | hp1 | a0001 | c0001 | t0010 | g0003 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01074 | hp2 | a0001 | c0001 | t0001 | g0298 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01081 | hp1 | a0001 | c0001 | t0012 | g0096 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01081 | hp2 | a0003 | c0004 | t0009 | g0024 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01099 | hp1 | a0001 | c0001 | t0002 | g0110 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01099 | hp2 | a0001 | c0001 | t0010 | g0003 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01106 | hp1 | a0001 | c0001 | t0024 | g0067 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01106 | hp2 | a0001 | c0001 | t0012 | g0111 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01109 | hp1 | a0003 | c0003 | t0009 | g0021 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01109 | hp2 | a0001 | c0001 | t0008 | g0235 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01168 | hp1 | a0001 | c0001 | t0002 | g0119 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01168 | hp2 | a0001 | c0001 | t0001 | g0123 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01175 | hp1 | a0003 | c0003 | t0006 | g0193 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01175 | hp2 | a0001 | c0001 | t0034 | g0290 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01243 | hp1 | a0001 | c0006 | t0039 | g0034 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01243 | hp2 | a0001 | c0001 | t0017 | g0230 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01255 | hp1 | a0001 | c0001 | t0007 | g0223 | AMR | CLM | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01255 | hp2 | a0001 | c0001 | t0002 | g0256 | AMR | CLM | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01256 | hp1 | a0001 | c0001 | t0001 | g0100 | AMR | CLM | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01256 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | CLM | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01257 | hp1 | a0001 | c0001 | t0001 | g0064 | AMR | CLM | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01257 | hp2 | a0001 | c0001 | t0002 | g0040 | AMR | CLM | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01258 | hp1 | a0001 | c0001 | t0002 | g0041 | AMR | CLM | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01258 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | CLM | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01261 | hp1 | a0001 | c0001 | t0001 | g0075 | AMR | CLM | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01261 | hp2 | a0001 | c0001 | t0001 | g0267 | AMR | CLM | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01346 | hp1 | a0001 | c0001 | t0001 | g0084 | AMR | CLM | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01346 | hp2 | a0001 | c0001 | t0002 | g0118 | AMR | CLM | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01358 | hp1 | a0001 | c0001 | t0016 | g0127 | AMR | CLM | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01358 | hp2 | a0001 | c0005 | t0001 | g0073 | AMR | CLM | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01433 | hp1 | a0001 | c0001 | t0036 | g0186 | AMR | CLM | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01433 | hp2 | a0001 | c0001 | t0007 | g0132 | AMR | CLM | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01496 | hp1 | a0001 | c0001 | t0001 | g0249 | AMR | CLM | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01496 | hp2 | a0001 | c0001 | t0010 | g0144 | AMR | CLM | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01515 | hp1 | a0001 | c0001 | t0001 | g0129 | EUR | IBS | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01515 | hp2 | a0001 | c0001 | t0007 | g0226 | EUR | IBS | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01516 | hp1 | a0001 | c0001 | t0002 | g0128 | EUR | IBS | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01516 | hp2 | a0001 | c0001 | t0001 | g0227 | EUR | IBS | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01884 | hp1 | a0001 | c0001 | t0005 | g0031 | AFR | ACB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01884 | hp2 | a0003 | c0004 | t0006 | g0143 | AFR | ACB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01891 | hp1 | a0003 | c0004 | t0006 | g0196 | AFR | ACB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01891 | hp2 | a0003 | c0003 | t0006 | g0071 | AFR | ACB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01928 | hp1 | a0001 | c0001 | t0025 | g0098 | AMR | PEL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01928 | hp2 | a0001 | c0001 | t0001 | g0077 | AMR | PEL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01952 | hp1 | a0001 | c0001 | t0001 | g0190 | AMR | PEL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01952 | hp2 | a0001 | c0001 | t0001 | g0083 | AMR | PEL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01978 | hp1 | a0001 | c0001 | t0005 | g0187 | AMR | PEL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01978 | hp2 | a0001 | c0001 | t0001 | g0120 | AMR | PEL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01981 | hp1 | a0001 | c0001 | t0001 | g0229 | AMR | PEL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01981 | hp2 | a0001 | c0001 | t0001 | g0266 | AMR | PEL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01993 | hp1 | a0001 | c0001 | t0001 | g0125 | AMR | PEL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG01993 | hp2 | a0001 | c0001 | t0001 | g0078 | AMR | PEL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02055 | hp1 | a0001 | c0001 | t0007 | g0308 | AFR | ACB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02055 | hp2 | a0002 | c0002 | t0005 | g0014 | AFR | ACB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02056 | hp1 | a0001 | c0001 | t0007 | g0076 | EAS | KHV | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02056 | hp2 | a0001 | c0001 | t0001 | g0115 | EAS | KHV | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02071 | hp1 | a0001 | c0001 | t0003 | g0215 | EAS | KHV | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02071 | hp2 | a0002 | c0002 | t0003 | g0260 | EAS | KHV | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02074 | hp1 | a0001 | c0001 | t0001 | g0164 | EAS | KHV | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02074 | hp2 | a0001 | c0001 | t0003 | g0008 | EAS | KHV | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02080 | hp1 | a0001 | c0001 | t0001 | g0080 | EAS | KHV | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02080 | hp2 | a0001 | c0001 | t0001 | g0276 | EAS | KHV | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02129 | hp1 | a0001 | c0001 | t0001 | g0273 | EAS | KHV | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02129 | hp2 | a0001 | c0001 | t0001 | g0247 | EAS | KHV | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02132 | hp1 | a0001 | c0001 | t0004 | g0167 | EAS | KHV | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02132 | hp2 | a0001 | c0001 | t0018 | g0185 | EAS | KHV | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02135 | hp1 | a0001 | c0001 | t0001 | g0219 | EAS | KHV | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02135 | hp2 | a0001 | c0001 | t0001 | g0221 | EAS | KHV | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02145 | hp1 | a0003 | c0003 | t0006 | g0294 | AFR | ACB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02145 | hp2 | a0002 | c0002 | t0014 | g0046 | AFR | ACB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02155 | hp1 | a0001 | c0001 | t0001 | g0202 | EAS | CDX | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02155 | hp2 | a0001 | c0001 | t0001 | g0133 | EAS | CDX | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02257 | hp1 | a0002 | c0002 | t0001 | g0291 | AFR | ACB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02257 | hp2 | a0002 | c0002 | t0004 | g0042 | AFR | ACB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02258 | hp1 | a0001 | c0001 | t0004 | g0044 | AFR | ACB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02258 | hp2 | a0001 | c0001 | t0001 | g0114 | AFR | ACB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02280 | hp1 | a0001 | c0001 | t0001 | g0309 | AFR | ACB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02280 | hp2 | a0003 | c0004 | t0008 | g0222 | AFR | ACB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02293 | hp1 | a0001 | c0001 | t0003 | g0250 | AMR | PEL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02293 | hp2 | a0001 | c0001 | t0001 | g0082 | AMR | PEL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02451 | hp1 | a0002 | c0002 | t0020 | g0033 | AFR | ACB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02451 | hp2 | a0003 | c0003 | t0009 | g0317 | AFR | ACB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02523 | hp1 | a0001 | c0001 | t0002 | g0303 | EAS | KHV | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02523 | hp2 | a0002 | c0002 | t0001 | g0157 | EAS | KHV | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02572 | hp1 | a0001 | c0001 | t0005 | g0038 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02572 | hp2 | a0003 | c0003 | t0006 | g0053 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02602 | hp1 | a0001 | c0001 | t0001 | g0274 | SAS | PJL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02602 | hp2 | a0001 | c0001 | t0001 | g0063 | SAS | PJL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02622 | hp1 | a0002 | c0002 | t0005 | g0023 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02622 | hp2 | a0001 | c0001 | t0005 | g0027 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02630 | hp1 | a0002 | c0002 | t0001 | g0153 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02630 | hp2 | a0002 | c0002 | t0043 | g0039 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02647 | hp1 | a0001 | c0001 | t0001 | g0011 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02647 | hp2 | a0001 | c0001 | t0041 | g0028 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02683 | hp1 | a0001 | c0001 | t0001 | g0225 | SAS | PJL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02683 | hp2 | a0002 | c0013 | t0001 | g0315 | SAS | PJL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02717 | hp1 | a0001 | c0001 | t0001 | g0054 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02717 | hp2 | a0001 | c0001 | t0011 | g0138 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02723 | hp1 | a0001 | c0001 | t0001 | g0292 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02723 | hp2 | a0002 | c0002 | t0005 | g0035 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02735 | hp1 | a0001 | c0001 | t0001 | g0068 | SAS | PJL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02735 | hp2 | a0001 | c0001 | t0037 | g0184 | SAS | PJL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02809 | hp1 | a0003 | c0004 | t0008 | g0137 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02809 | hp2 | a0001 | c0001 | t0035 | g0066 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02818 | hp1 | a0001 | c0001 | t0001 | g0270 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02818 | hp2 | a0001 | c0001 | t0001 | g0278 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02886 | hp1 | a0004 | c0007 | t0013 | g0175 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02886 | hp2 | a0002 | c0002 | t0005 | g0036 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02895 | hp1 | a0002 | c0002 | t0001 | g0152 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02895 | hp2 | a0001 | c0001 | t0017 | g0300 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02896 | hp1 | a0001 | c0001 | t0008 | g0001 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02896 | hp2 | a0001 | c0001 | t0001 | g0147 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02897 | hp1 | a0001 | c0001 | t0008 | g0001 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02897 | hp2 | a0002 | c0002 | t0001 | g0179 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02965 | hp1 | a0002 | c0002 | t0005 | g0018 | AFR | ESN | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02965 | hp2 | a0002 | c0002 | t0015 | g0296 | AFR | ESN | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02970 | hp1 | a0001 | c0001 | t0001 | g0293 | AFR | ESN | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02970 | hp2 | a0001 | c0001 | t0001 | g0051 | AFR | ESN | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02976 | hp1 | a0004 | c0007 | t0013 | g0058 | AFR | ESN | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02976 | hp2 | a0003 | c0004 | t0009 | g0037 | AFR | ESN | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG03017 | hp1 | a0001 | c0001 | t0027 | g0086 | SAS | PJL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG03017 | hp2 | a0001 | c0001 | t0002 | g0124 | SAS | PJL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG03041 | hp1 | a0003 | c0003 | t0006 | g0045 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG03041 | hp2 | a0001 | c0001 | t0004 | g0149 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG03098 | hp1 | a0002 | c0002 | t0015 | g0189 | AFR | MSL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG03098 | hp2 | a0001 | c0001 | t0001 | g0295 | AFR | MSL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG03130 | hp1 | a0001 | c0001 | t0001 | g0142 | AFR | ESN | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG03130 | hp2 | a0001 | c0001 | t0008 | g0048 | AFR | ESN | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG03139 | hp1 | a0001 | c0001 | t0030 | g0059 | AFR | ESN | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG03139 | hp2 | a0002 | c0002 | t0019 | g0029 | AFR | ESN | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG03195 | hp1 | a0002 | c0015 | t0031 | g0194 | AFR | ESN | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG03195 | hp2 | a0003 | c0004 | t0032 | g0173 | AFR | ESN | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG03209 | hp1 | a0001 | c0001 | t0002 | g0099 | AFR | MSL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG03209 | hp2 | a0001 | c0001 | t0040 | g0015 | AFR | MSL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG03225 | hp1 | a0001 | c0001 | t0011 | g0140 | AFR | MSL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG03225 | hp2 | a0001 | c0001 | t0001 | g0057 | AFR | MSL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG03453 | hp1 | a0001 | c0001 | t0004 | g0305 | AFR | MSL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG03453 | hp2 | a0001 | c0006 | t0029 | g0195 | AFR | MSL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG03486 | hp1 | a0002 | c0002 | t0001 | g0154 | AFR | MSL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG03486 | hp2 | a0003 | c0004 | t0021 | g0139 | AFR | MSL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG03490 | hp1 | a0001 | c0001 | t0001 | g0134 | SAS | PJL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG03490 | hp2 | a0001 | c0001 | t0001 | g0005 | SAS | PJL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG03491 | hp1 | a0001 | c0001 | t0002 | g0013 | SAS | PJL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG03491 | hp2 | a0001 | c0001 | t0002 | g0131 | SAS | PJL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG03492 | hp1 | a0001 | c0001 | t0001 | g0005 | SAS | PJL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG03492 | hp2 | a0001 | c0001 | t0001 | g0130 | SAS | PJL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG03516 | hp1 | a0002 | c0002 | t0020 | g0020 | AFR | ESN | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG03516 | hp2 | a0003 | c0003 | t0006 | g0304 | AFR | ESN | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG03540 | hp1 | a0001 | c0001 | t0001 | g0178 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG03540 | hp2 | a0002 | c0014 | t0005 | g0026 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG03669 | hp1 | a0001 | c0001 | t0001 | g0146 | SAS | PJL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG03669 | hp2 | a0001 | c0001 | t0001 | g0297 | SAS | PJL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG03688 | hp1 | a0001 | c0001 | t0001 | g0163 | SAS | STU | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG03688 | hp2 | a0001 | c0001 | t0001 | g0069 | SAS | STU | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG03704 | hp1 | a0001 | c0001 | t0001 | g0101 | SAS | PJL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG03704 | hp2 | a0002 | c0002 | t0001 | g0103 | SAS | PJL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG03831 | hp1 | a0001 | c0001 | t0001 | g0072 | SAS | BEB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG03831 | hp2 | a0001 | c0001 | t0001 | g0269 | SAS | BEB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG03834 | hp1 | a0001 | c0001 | t0026 | g0286 | SAS | BEB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG03834 | hp2 | a0001 | c0001 | t0001 | g0085 | SAS | BEB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG03942 | hp1 | a0001 | c0001 | t0004 | g0012 | SAS | BEB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG03942 | hp2 | a0005 | c0009 | t0004 | g0228 | SAS | BEB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG04115 | hp1 | a0001 | c0001 | t0001 | g0155 | SAS | STU | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG04115 | hp2 | a0001 | c0001 | t0001 | g0162 | SAS | STU | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG04199 | hp1 | a0001 | c0001 | t0004 | g0277 | SAS | STU | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG04199 | hp2 | a0001 | c0001 | t0002 | g0079 | SAS | STU | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG04204 | hp1 | a0001 | c0001 | t0001 | g0106 | SAS | STU | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG04204 | hp2 | a0001 | c0001 | t0001 | g0070 | SAS | STU | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG04228 | hp1 | a0001 | c0001 | t0001 | g0282 | SAS | STU | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG04228 | hp2 | a0001 | c0001 | t0007 | g0285 | SAS | STU | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18522 | hp1 | a0001 | c0001 | t0001 | g0004 | AFR | YRI | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18522 | hp2 | a0002 | c0002 | t0001 | g0055 | AFR | YRI | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18747 | hp1 | a0001 | c0001 | t0001 | g0210 | EAS | CHB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18747 | hp2 | a0001 | c0011 | t0001 | g0107 | EAS | CHB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18906 | hp1 | a0001 | c0001 | t0001 | g0148 | AFR | YRI | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18906 | hp2 | a0001 | c0001 | t0004 | g0049 | AFR | YRI | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18939 | hp1 | a0001 | c0001 | t0001 | g0176 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18939 | hp2 | a0001 | c0001 | t0001 | g0314 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18942 | hp1 | a0001 | c0001 | t0004 | g0218 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18942 | hp2 | a0001 | c0001 | t0002 | g0257 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18943 | hp1 | a0001 | c0001 | t0001 | g0213 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18943 | hp2 | a0001 | c0001 | t0001 | g0302 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18950 | hp1 | a0001 | c0001 | t0001 | g0161 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18950 | hp2 | a0001 | c0001 | t0001 | g0241 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18951 | hp1 | a0001 | c0001 | t0004 | g0280 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18951 | hp2 | a0002 | c0002 | t0001 | g0006 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18952 | hp1 | a0001 | c0001 | t0001 | g0109 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18952 | hp2 | a0001 | c0001 | t0001 | g0316 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18953 | hp1 | a0001 | c0001 | t0003 | g0258 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18953 | hp2 | a0001 | c0001 | t0001 | g0017 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18954 | hp1 | a0001 | c0001 | t0001 | g0010 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18954 | hp2 | a0001 | c0001 | t0001 | g0264 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18956 | hp1 | a0001 | c0001 | t0001 | g0089 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18956 | hp2 | a0002 | c0002 | t0001 | g0166 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18957 | hp1 | a0001 | c0001 | t0001 | g0212 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18957 | hp2 | a0001 | c0001 | t0001 | g0261 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18960 | hp1 | a0001 | c0001 | t0004 | g0248 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18960 | hp2 | a0001 | c0001 | t0001 | g0108 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18964 | hp1 | a0001 | c0001 | t0001 | g0262 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18964 | hp2 | a0002 | c0002 | t0003 | g0259 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18968 | hp1 | a0001 | c0001 | t0003 | g0268 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18968 | hp2 | a0001 | c0001 | t0001 | g0007 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18971 | hp1 | a0001 | c0001 | t0001 | g0265 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18971 | hp2 | a0002 | c0002 | t0003 | g0251 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18973 | hp1 | a0002 | c0002 | t0001 | g0159 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18973 | hp2 | a0002 | c0002 | t0003 | g0231 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18974 | hp1 | a0002 | c0002 | t0003 | g0232 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18974 | hp2 | a0002 | c0002 | t0001 | g0169 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18975 | hp1 | a0006 | c0012 | t0001 | g0160 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18975 | hp2 | a0001 | c0001 | t0001 | g0198 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18979 | hp1 | a0001 | c0001 | t0001 | g0220 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18979 | hp2 | a0002 | c0002 | t0001 | g0126 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18980 | hp1 | a0001 | c0001 | t0001 | g0234 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18980 | hp2 | a0001 | c0001 | t0001 | g0199 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18983 | hp1 | a0001 | c0001 | t0007 | g0287 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18983 | hp2 | a0001 | c0001 | t0007 | g0238 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18984 | hp1 | a0002 | c0002 | t0003 | g0233 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18984 | hp2 | a0001 | c0001 | t0001 | g0007 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18985 | hp1 | a0001 | c0001 | t0001 | g0122 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18985 | hp2 | a0001 | c0001 | t0001 | g0243 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18998 | hp1 | a0001 | c0001 | t0003 | g0205 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18998 | hp2 | a0001 | c0001 | t0001 | g0301 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18999 | hp1 | a0001 | c0001 | t0001 | g0170 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA18999 | hp2 | a0001 | c0001 | t0001 | g0206 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19004 | hp1 | a0001 | c0001 | t0001 | g0093 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19004 | hp2 | a0001 | c0001 | t0001 | g0171 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19005 | hp1 | a0001 | c0001 | t0001 | g0151 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19005 | hp2 | a0001 | c0001 | t0001 | g0104 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19007 | hp1 | a0001 | c0001 | t0001 | g0092 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19007 | hp2 | a0001 | c0001 | t0003 | g0008 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19009 | hp1 | a0001 | c0001 | t0001 | g0263 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19009 | hp2 | a0001 | c0001 | t0002 | g0203 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19010 | hp1 | a0001 | c0001 | t0001 | g0306 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19010 | hp2 | a0001 | c0001 | t0003 | g0288 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19011 | hp1 | a0001 | c0001 | t0001 | g0145 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19011 | hp2 | a0002 | c0002 | t0003 | g0204 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19012 | hp1 | a0001 | c0001 | t0007 | g0177 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19012 | hp2 | a0001 | c0001 | t0001 | g0239 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19030 | hp1 | a0007 | c0008 | t0042 | g0025 | AFR | LWK | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19030 | hp2 | a0001 | c0001 | t0001 | g0004 | AFR | LWK | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19043 | hp1 | a0003 | c0003 | t0006 | g0156 | AFR | LWK | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19043 | hp2 | a0001 | c0001 | t0001 | g0136 | AFR | LWK | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19056 | hp1 | a0002 | c0002 | t0001 | g0060 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19056 | hp2 | a0001 | c0001 | t0001 | g0245 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19057 | hp1 | a0001 | c0001 | t0001 | g0112 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19057 | hp2 | a0001 | c0001 | t0001 | g0197 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19060 | hp1 | a0001 | c0001 | t0022 | g0192 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19060 | hp2 | a0002 | c0002 | t0001 | g0208 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19062 | hp1 | a0001 | c0001 | t0001 | g0081 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19062 | hp2 | a0002 | c0002 | t0001 | g0158 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19065 | hp1 | a0001 | c0001 | t0001 | g0168 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19065 | hp2 | a0001 | c0001 | t0002 | g0009 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19066 | hp1 | a0001 | c0001 | t0001 | g0217 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19066 | hp2 | a0001 | c0001 | t0001 | g0200 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19067 | hp1 | a0001 | c0001 | t0001 | g0088 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19067 | hp2 | a0001 | c0001 | t0007 | g0174 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19075 | hp1 | a0002 | c0002 | t0001 | g0289 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19075 | hp2 | a0001 | c0001 | t0003 | g0299 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19076 | hp1 | a0001 | c0001 | t0002 | g0272 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19076 | hp2 | a0001 | c0001 | t0001 | g0279 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19079 | hp1 | a0001 | c0001 | t0003 | g0275 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19079 | hp2 | a0002 | c0002 | t0001 | g0181 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19081 | hp1 | a0001 | c0001 | t0001 | g0244 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19081 | hp2 | a0001 | c0001 | t0001 | g0087 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19082 | hp1 | a0002 | c0002 | t0001 | g0236 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19082 | hp2 | a0001 | c0001 | t0001 | g0281 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19087 | hp1 | a0002 | c0002 | t0001 | g0006 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19087 | hp2 | a0001 | c0001 | t0001 | g0254 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19088 | hp1 | a0001 | c0001 | t0001 | g0091 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19088 | hp2 | a0001 | c0001 | t0002 | g0237 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19090 | hp1 | a0001 | c0001 | t0003 | g0242 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19090 | hp2 | a0001 | c0001 | t0001 | g0201 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19091 | hp1 | a0001 | c0001 | t0002 | g0009 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19091 | hp2 | a0001 | c0001 | t0001 | g0211 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19240 | hp1 | a0003 | c0003 | t0006 | g0056 | AFR | YRI | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA19240 | hp2 | a0001 | c0001 | t0028 | g0271 | AFR | YRI | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA20129 | hp1 | a0001 | c0001 | t0023 | g0141 | AFR | ASW | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA20129 | hp2 | a0001 | c0001 | t0001 | g0312 | AFR | ASW | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA20752 | hp1 | a0001 | c0001 | t0001 | g0313 | EUR | TSI | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA20752 | hp2 | a0001 | c0001 | t0002 | g0061 | EUR | TSI | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA20805 | hp1 | a0001 | c0001 | t0001 | g0284 | EUR | TSI | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA20805 | hp2 | a0001 | c0001 | t0002 | g0097 | EUR | TSI | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA20905 | hp1 | a0001 | c0001 | t0001 | g0121 | SAS | GIH | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA20905 | hp2 | a0001 | c0001 | t0001 | g0165 | SAS | GIH | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02109 | hp1 | a0003 | c0003 | t0033 | g0188 | AFR | ACB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02109 | hp2 | a0003 | c0004 | t0009 | g0022 | AFR | ACB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02486 | hp1 | a0002 | c0002 | t0005 | g0016 | AFR | ACB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02486 | hp2 | a0001 | c0001 | t0001 | g0253 | AFR | ACB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02559 | hp1 | a0001 | c0001 | t0004 | g0180 | AFR | ACB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG02559 | hp2 | a0003 | c0003 | t0006 | g0050 | AFR | ACB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG06807 | hp1 | a0002 | c0002 | t0001 | g0182 | AFR | USA | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
HG06807 | hp2 | a0002 | c0002 | t0019 | g0019 | AFR | USA | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA20300 | hp1 | a0001 | c0016 | t0005 | g0032 | AFR | USA | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA20300 | hp2 | a0001 | c0001 | t0004 | g0052 | AFR | USA | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA21309 | hp1 | a0001 | c0001 | t0001 | g0209 | AFR | LWK | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
NA21309 | hp2 | a0002 | c0002 | t0014 | g0047 | AFR | LWK | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
homoSapiens | chm13v2 | a0001 | c0001 | t0001 | g0207 | REF | REF | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
homoSapiens | grch38p0 | a0001 | c0001 | t0002 | g0310 | REF | REF | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr2:46376634 | G | A | 1 | a0007 | 1 | NA19030.hp1 | missense_variant | MODERATE | c.1130G>A | p.Ser377Asn | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/16 | 1635/5155 | 1130/2613 | 377/870 | chr2 | 46376634 | |||
chr2:46380353 | C | A | 1 | a0005 | 1 | HG03942.hp2 | missense_variant | MODERATE | c.1681C>A | p.Gln561Lys | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 12/16 | 2186/5155 | 1681/2613 | 561/870 | chr2 | 46380353 | |||
chr2:46380582 | C | T | 1 | a0006 | 1 | NA18975.hp1 | missense_variant | MODERATE | c.1910C>T | p.Thr637Ile | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 12/16 | 2415/5155 | 1910/2613 | 637/870 | chr2 | 46380582 | |||
chr2:46382057 | C | T | 1 | a0004 | 2 | HG02886.hp1 HG02976.hp1 |
missense_variant | MODERATE | c.2255C>T | p.Pro752Leu | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 14/16 | 2760/5155 | 2255/2613 | 752/870 | chr2 | 46382057 | |||
chr2:46382433 | A | C | 3 | a0002 a0003 a0007 |
70 | HG00408.hp1 HG01081.hp2 HG01109.hp1 others(67): Show |
missense_variant | MODERATE | c.2296A>C | p.Thr766Pro | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/16 | 2801/5155 | 2296/2613 | 766/870 | chr2 | 46382433 | |||
chr2:46382490 | C | A | 1 | a0003 | 21 | HG01081.hp2 HG01109.hp1 HG01175.hp1 others(18): Show |
missense_variant | MODERATE | c.2353C>A | p.Pro785Thr | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/16 | 2858/5155 | 2353/2613 | 785/870 | chr2 | 46382490 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr2:46376599 | C | G | 1 | a0001c0016 | 1 | NA20300.hp1 | synonymous_variant | LOW | c.1095C>G | p.Pro365Pro | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/16 | 1600/5155 | 1095/2613 | 365/870 | chr2 | 46376599 | |||
chr2:46376617 | C | T | 1 | a0002c0015 | 1 | HG03195.hp1 | synonymous_variant | LOW | c.1113C>T | p.Asn371Asn | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/16 | 1618/5155 | 1113/2613 | 371/870 | chr2 | 46376617 | |||
chr2:46376695 | C | T | 1 | a0007c0008 | 1 | NA19030.hp1 | synonymous_variant | LOW | c.1191C>T | p.Pro397Pro | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/16 | 1696/5155 | 1191/2613 | 397/870 | chr2 | 46376695 | |||
chr2:46376731 | C | T | 1 | a0002c0014 | 1 | HG03540.hp2 | synonymous_variant | LOW | c.1227C>T | p.Asp409Asp | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/16 | 1732/5155 | 1227/2613 | 409/870 | chr2 | 46376731 | |||
chr2:46380505 | C | T | 1 | a0002c0013 | 1 | HG02683.hp2 | synonymous_variant | LOW | c.1833C>T | p.Ala611Ala | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 12/16 | 2338/5155 | 1833/2613 | 611/870 | chr2 | 46380505 | |||
chr2:46380580 | T | C | 1 | a0001c0005 | 2 | HG00099.hp2 HG01358.hp2 |
synonymous_variant | LOW | c.1908T>C | p.Asn636Asn | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 12/16 | 2413/5155 | 1908/2613 | 636/870 | chr2 | 46380580 | |||
chr2:46381716 | G | A | 1 | a0001c0006 | 2 | HG01243.hp1 HG03453.hp2 |
synonymous_variant | LOW | c.2166G>A | p.Leu722Leu | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 13/16 | 2671/5155 | 2166/2613 | 722/870 | chr2 | 46381716 | |||
chr2:46382594 | G | A | 1 | a0001c0010 | 1 | HG00741.hp1 | synonymous_variant | LOW | c.2457G>A | p.Val819Val | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/16 | 2962/5155 | 2457/2613 | 819/870 | chr2 | 46382594 | |||
chr2:46384558 | C | T | 1 | a0003c0003 | 12 | HG01109.hp1 HG01175.hp1 HG01891.hp2 others(9): Show |
synonymous_variant | LOW | c.2511C>T | p.Pro837Pro | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 3016/5155 | 2511/2613 | 837/870 | chr2 | 46384558 | |||
chr2:46384585 | G | T | 1 | a0001c0011 | 1 | NA18747.hp2 | synonymous_variant | LOW | c.2538G>T | p.Val846Val | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 3043/5155 | 2538/2613 | 846/870 | chr2 | 46384585 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr2:46297441 | C | T | 3 | a0001c0001t0003 a0001c0001t0044 a0002c0002t0003 |
19 | HG00280.hp1 HG02071.hp1 HG02071.hp2 others(16): Show |
5_prime_UTR_variant | MODIFIER | c.-471C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/16 | 471 | chr2 | 46297441 | ||||||
chr2:46297561 | C | CT | 13 | a0001c0001t0005 a0001c0001t0040 a0001c0001t0041 others(10): Show |
27 | HG00738.hp1 HG01081.hp2 HG01109.hp1 others(24): Show |
5_prime_UTR_variant | MODIFIER | c.-341dupT | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/16 | 340 | INFO_REALIGN_3_PRIME | chr2 | 46297561 | |||||
chr2:46297632 | C | T | 1 | a0001c0001t0038 | 1 | HG00673.hp1 | 5_prime_UTR_variant | MODIFIER | c.-280C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/16 | 280 | chr2 | 46297632 | ||||||
chr2:46297677 | C | A | 2 | a0001c0001t0011 a0003c0004t0021 |
3 | HG02717.hp2 HG03225.hp1 HG03486.hp2 |
5_prime_UTR_variant | MODIFIER | c.-235C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/16 | 235 | chr2 | 46297677 | ||||||
chr2:46297772 | G | A | 2 | a0001c0001t0010 a0001c0001t0022 |
5 | HG00673.hp2 HG01074.hp1 HG01099.hp2 others(2): Show |
5_prime_UTR_variant | MODIFIER | c.-140G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/16 | 140 | chr2 | 46297772 | ||||||
chr2:46297799 | T | C | 1 | a0001c0001t0023 | 1 | NA20129.hp1 | 5_prime_UTR_variant | MODIFIER | c.-113T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/16 | 113 | chr2 | 46297799 | ||||||
chr2:46297848 | G | GC | 6 | a0001c0001t0011 a0001c0001t0018 a0001c0001t0036 others(3): Show |
7 | HG00099.hp2 HG01433.hp1 HG02132.hp2 others(4): Show |
5_prime_UTR_variant | MODIFIER | c.-58dupC | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/16 | 57 | INFO_REALIGN_3_PRIME | chr2 | 46297848 | |||||
chr2:46384771 | A | G | 1 | a0001c0001t0035 | 1 | HG02809.hp2 | 3_prime_UTR_variant | MODIFIER | c.*111A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 111 | chr2 | 46384771 | ||||||
chr2:46384839 | A | T | 1 | a0002c0002t0043 | 1 | HG02630.hp2 | 3_prime_UTR_variant | MODIFIER | c.*179A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 179 | chr2 | 46384839 | ||||||
chr2:46384868 | T | C | 1 | a0001c0001t0012 | 2 | HG01081.hp1 HG01106.hp2 |
3_prime_UTR_variant | MODIFIER | c.*208T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 208 | chr2 | 46384868 | ||||||
chr2:46384880 | A | T | 2 | a0002c0002t0043 a0007c0008t0042 |
2 | HG02630.hp2 NA19030.hp1 |
3_prime_UTR_variant | MODIFIER | c.*220A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 220 | chr2 | 46384880 | ||||||
chr2:46385014 | G | C | 1 | a0001c0001t0024 | 1 | HG01106.hp1 | 3_prime_UTR_variant | MODIFIER | c.*354G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 354 | chr2 | 46385014 | ||||||
chr2:46385124 | G | A | 1 | a0001c0001t0025 | 1 | HG01928.hp1 | 3_prime_UTR_variant | MODIFIER | c.*464G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 464 | chr2 | 46385124 | ||||||
chr2:46385187 | GT | G | 15 | a0001c0001t0007 a0001c0001t0008 a0001c0001t0030 others(12): Show |
40 | HG01081.hp2 HG01109.hp1 HG01109.hp2 others(37): Show |
3_prime_UTR_variant | MODIFIER | c.*540delT | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 540 | INFO_REALIGN_3_PRIME | chr2 | 46385187 | |||||
chr2:46385187 | GTT | G | 39 | a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(36): Show |
253 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(250): Show |
3_prime_UTR_variant | MODIFIER | c.*539_*540delTT | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 539 | INFO_REALIGN_3_PRIME | chr2 | 46385187 | |||||
chr2:46385195 | T | C | 1 | a0004c0007t0013 | 2 | HG02886.hp1 HG02976.hp1 |
3_prime_UTR_variant | MODIFIER | c.*535T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 535 | chr2 | 46385195 | ||||||
chr2:46385262 | G | C | 1 | a0002c0002t0014 | 2 | HG02145.hp2 NA21309.hp2 |
3_prime_UTR_variant | MODIFIER | c.*602G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 602 | chr2 | 46385262 | ||||||
chr2:46385361 | C | CTGAG | 5 | a0001c0001t0004 a0001c0001t0030 a0002c0002t0004 others(2): Show |
18 | HG00741.hp2 HG02132.hp1 HG02257.hp2 others(15): Show |
3_prime_UTR_variant | MODIFIER | c.*703_*706dupGAGT | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 707 | INFO_REALIGN_3_PRIME | chr2 | 46385361 | |||||
chr2:46385450 | C | T | 1 | a0003c0004t0032 | 1 | HG03195.hp2 | 3_prime_UTR_variant | MODIFIER | c.*790C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 790 | chr2 | 46385450 | ||||||
chr2:46385513 | G | A | 9 | a0001c0001t0008 a0003c0003t0006 a0003c0003t0009 others(6): Show |
25 | HG01081.hp2 HG01109.hp1 HG01109.hp2 others(22): Show |
3_prime_UTR_variant | MODIFIER | c.*853G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 853 | chr2 | 46385513 | ||||||
chr2:46385658 | G | A | 1 | a0004c0007t0013 | 2 | HG02886.hp1 HG02976.hp1 |
3_prime_UTR_variant | MODIFIER | c.*998G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 998 | chr2 | 46385658 | ||||||
chr2:46385867 | A | C | 2 | a0001c0001t0017 a0001c0001t0041 |
3 | HG01243.hp2 HG02647.hp2 HG02895.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1207A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 1207 | chr2 | 46385867 | ||||||
chr2:46385899 | A | G | 3 | a0001c0001t0016 a0001c0001t0034 a0001c0010t0016 |
3 | HG00741.hp1 HG01175.hp2 HG01358.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1239A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 1239 | chr2 | 46385899 | ||||||
chr2:46385903 | A | AG | 2 | a0002c0002t0015 a0002c0002t0020 |
4 | HG02451.hp1 HG02965.hp2 HG03098.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*1247dupG | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 1248 | INFO_REALIGN_3_PRIME | chr2 | 46385903 | |||||
chr2:46385920 | T | C | 1 | a0001c0001t0026 | 1 | HG03834.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1260T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 1260 | chr2 | 46385920 | ||||||
chr2:46385932 | C | T | 1 | a0001c0001t0044 | 1 | HG00280.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1272C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 1272 | chr2 | 46385932 | ||||||
chr2:46385935 | C | A | 1 | a0001c0001t0027 | 1 | HG03017.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1275C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 1275 | chr2 | 46385935 | ||||||
chr2:46385936 | G | A | 7 | a0003c0003t0006 a0003c0003t0009 a0003c0003t0033 others(4): Show |
19 | HG01081.hp2 HG01109.hp1 HG01175.hp1 others(16): Show |
3_prime_UTR_variant | MODIFIER | c.*1276G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 1276 | chr2 | 46385936 | ||||||
chr2:46386005 | A | T | 2 | a0001c0006t0029 a0001c0006t0039 |
2 | HG01243.hp1 HG03453.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1345A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 1345 | chr2 | 46386005 | ||||||
chr2:46386033 | C | G | 1 | a0002c0015t0031 | 1 | HG03195.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1373C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 1373 | chr2 | 46386033 | ||||||
chr2:46386245 | T | C | 1 | a0001c0001t0028 | 1 | NA19240.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1585T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 1585 | chr2 | 46386245 | ||||||
chr2:46386274 | C | T | 1 | a0002c0015t0031 | 1 | HG03195.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1614C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 1614 | chr2 | 46386274 | ||||||
chr2:46386384 | G | A | 1 | a0001c0001t0012 | 2 | HG01081.hp1 HG01106.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1724G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 1724 | chr2 | 46386384 | ||||||
chr2:46386571 | C | T | 1 | a0004c0007t0013 | 2 | HG02886.hp1 HG02976.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1911C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 1911 | chr2 | 46386571 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr2:46298115 | A | G | 1 | a0003c0003t0009g0317 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.26+178A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46298115 | |||||||
chr2:46298116 | G | A | 30 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0017 others(27): Show |
30 | HG00738.hp1 HG01081.hp2 HG01109.hp1 others(27): Show |
intron_variant | MODIFIER | c.26+179G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46298116 | |||||||
chr2:46298210 | G | A | 2 | a0001c0001t0002g0040 a0001c0001t0002g0041 |
2 | HG01257.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.26+273G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46298210 | |||||||
chr2:46298252 | G | C | 185 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(182): Show |
191 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(188): Show |
intron_variant | MODIFIER | c.26+315G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46298252 | |||||||
chr2:46298274 | G | C | 2 | a0002c0002t0015g0189 a0003c0003t0033g0188 |
2 | HG02109.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.26+337G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46298274 | |||||||
chr2:46298406 | A | T | 1 | a0001c0001t0005g0187 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.26+469A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46298406 | |||||||
chr2:46298459 | C | G | 4 | a0001c0001t0018g0185 a0001c0001t0036g0186 a0001c0001t0037g0184 others(1): Show |
4 | HG00099.hp2 HG01433.hp1 HG02132.hp2 others(1): Show |
intron_variant | MODIFIER | c.26+522C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46298459 | |||||||
chr2:46298649 | C | G | 1 | a0002c0002t0043g0039 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.26+712C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46298649 | |||||||
chr2:46298677 | G | T | 2 | a0001c0001t0005g0038 a0003c0004t0009g0037 |
2 | HG02572.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.26+740G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46298677 | |||||||
chr2:46298793 | C | T | 1 | a0002c0002t0001g0182 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.26+856C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46298793 | |||||||
chr2:46298871 | A | C | 1 | a0001c0001t0001g0316 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.26+934A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46298871 | |||||||
chr2:46298957 | T | C | 148 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(145): Show |
151 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(148): Show |
intron_variant | MODIFIER | c.26+1020T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46298957 | |||||||
chr2:46299288 | G | T | 31 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0017 others(28): Show |
31 | HG00738.hp1 HG01081.hp2 HG01109.hp1 others(28): Show |
intron_variant | MODIFIER | c.26+1351G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46299288 | |||||||
chr2:46299300 | G | A | 2 | a0002c0002t0015g0189 a0003c0003t0033g0188 |
2 | HG02109.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.26+1363G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46299300 | |||||||
chr2:46299358 | C | T | 4 | a0001c0001t0018g0185 a0001c0001t0036g0186 a0001c0001t0037g0184 others(1): Show |
4 | HG00099.hp2 HG01433.hp1 HG02132.hp2 others(1): Show |
intron_variant | MODIFIER | c.26+1421C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46299358 | |||||||
chr2:46299376 | A | G | 4 | a0001c0001t0010g0003 a0001c0001t0010g0144 a0001c0001t0010g0191 others(1): Show |
5 | HG00673.hp2 HG01074.hp1 HG01099.hp2 others(2): Show |
intron_variant | MODIFIER | c.26+1439A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46299376 | |||||||
chr2:46299433 | A | C | 48 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0017 others(45): Show |
49 | HG00099.hp2 HG00673.hp2 HG00738.hp1 others(46): Show |
intron_variant | MODIFIER | c.26+1496A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46299433 | |||||||
chr2:46299482 | C | A | 5 | a0001c0001t0004g0043 a0001c0001t0004g0044 a0002c0002t0001g0182 others(2): Show |
5 | HG00741.hp2 HG02257.hp2 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.26+1545C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46299482 | |||||||
chr2:46299614 | AC | A | 15 | a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0057 others(12): Show |
16 | HG02145.hp2 HG02559.hp2 HG02572.hp2 others(13): Show |
intron_variant | MODIFIER | c.26+1678delC | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46299614 | |||||||
chr2:46299685 | G | T | 1 | a0002c0002t0001g0181 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.26+1748G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46299685 | |||||||
chr2:46299861 | T | C | 4 | a0001c0006t0029g0195 a0002c0015t0031g0194 a0003c0003t0006g0193 others(1): Show |
4 | HG01175.hp1 HG01891.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.26+1924T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46299861 | |||||||
chr2:46299886 | G | A | 1 | a0001c0001t0001g0136 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.26+1949G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46299886 | |||||||
chr2:46300097 | TA | T | 30 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0017 others(27): Show |
30 | HG00738.hp1 HG01081.hp2 HG01109.hp1 others(27): Show |
intron_variant | MODIFIER | c.26+2162delA | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46300097 | ||||||
chr2:46300165 | C | A | 16 | a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0057 others(13): Show |
17 | HG02145.hp2 HG02559.hp2 HG02572.hp2 others(14): Show |
intron_variant | MODIFIER | c.26+2228C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46300165 | |||||||
chr2:46300308 | T | A | 1 | a0003c0003t0009g0317 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.26+2371T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46300308 | |||||||
chr2:46300349 | C | T | 1 | a0003c0004t0006g0143 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.26+2412C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46300349 | |||||||
chr2:46300401 | G | C | 305 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(302): Show |
314 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(311): Show |
intron_variant | MODIFIER | c.26+2464G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46300401 | |||||||
chr2:46300453 | A | T | 1 | a0002c0002t0005g0036 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.26+2516A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46300453 | |||||||
chr2:46300516 | G | A | 2 | a0002c0002t0015g0189 a0003c0003t0033g0188 |
2 | HG02109.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.26+2579G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46300516 | |||||||
chr2:46300677 | A | G | 192 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(189): Show |
198 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(195): Show |
intron_variant | MODIFIER | c.26+2740A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46300677 | |||||||
chr2:46300790 | T | A | 1 | a0001c0001t0001g0197 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.26+2853T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46300790 | |||||||
chr2:46301148 | T | G | 33 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0017 others(30): Show |
33 | HG00738.hp1 HG01081.hp2 HG01109.hp1 others(30): Show |
intron_variant | MODIFIER | c.26+3211T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46301148 | |||||||
chr2:46301223 | A | T | 22 | a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0057 others(19): Show |
23 | HG00741.hp2 HG02145.hp2 HG02257.hp2 others(20): Show |
intron_variant | MODIFIER | c.26+3286A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46301223 | |||||||
chr2:46301304 | G | T | 1 | a0001c0001t0001g0197 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.26+3367G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46301304 | |||||||
chr2:46301382 | C | A | 1 | a0003c0003t0009g0317 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.26+3445C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46301382 | |||||||
chr2:46301475 | G | A | 79 | a0001c0001t0001g0002 a0001c0001t0001g0063 a0001c0001t0001g0064 others(76): Show |
80 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(77): Show |
intron_variant | MODIFIER | c.26+3538G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46301475 | |||||||
chr2:46301552 | G | A | 7 | a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0010g0003 others(4): Show |
8 | HG00099.hp2 HG00673.hp2 HG01074.hp1 others(5): Show |
intron_variant | MODIFIER | c.26+3615G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46301552 | |||||||
chr2:46301556 | A | AAG | 142 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(139): Show |
144 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(141): Show |
intron_variant | MODIFIER | c.26+3622_26+3623dup others(2): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46301556 | ||||||
chr2:46301578 | GA | G | 19 | a0001c0001t0001g0178 a0001c0001t0001g0298 a0001c0001t0001g0301 others(16): Show |
20 | HG00099.hp2 HG00673.hp2 HG01074.hp1 others(17): Show |
intron_variant | MODIFIER | c.26+3659delA | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46301578 | ||||||
chr2:46301578 | GAA | G | 99 | a0001c0001t0001g0002 a0001c0001t0001g0051 a0001c0001t0001g0054 others(96): Show |
101 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(98): Show |
intron_variant | MODIFIER | c.26+3658_26+3659del others(2): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46301578 | ||||||
chr2:46301578 | GAAA | G | 14 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0133 others(11): Show |
14 | HG01884.hp2 HG01978.hp1 HG02055.hp2 others(11): Show |
intron_variant | MODIFIER | c.26+3657_26+3659del others(3): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46301578 | ||||||
chr2:46301578 | GAAAA | G | 22 | a0001c0001t0001g0017 a0001c0001t0005g0027 a0001c0001t0005g0030 others(19): Show |
22 | HG00738.hp1 HG01081.hp2 HG01109.hp1 others(19): Show |
intron_variant | MODIFIER | c.26+3656_26+3659del others(4): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46301578 | ||||||
chr2:46301612 | T | G | 3 | a0001c0001t0004g0043 a0002c0002t0001g0182 a0002c0002t0004g0042 |
3 | HG00741.hp2 HG02257.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.26+3675T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46301612 | |||||||
chr2:46301709 | G | A | 1 | a0001c0001t0001g0010 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.26+3772G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46301709 | |||||||
chr2:46301746 | T | C | 1 | a0001c0001t0011g0138 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.26+3809T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46301746 | |||||||
chr2:46301822 | T | A | 79 | a0001c0001t0001g0002 a0001c0001t0001g0063 a0001c0001t0001g0064 others(76): Show |
80 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(77): Show |
intron_variant | MODIFIER | c.26+3885T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46301822 | |||||||
chr2:46301824 | G | GA | 30 | a0001c0001t0001g0011 a0001c0001t0001g0051 a0001c0001t0001g0054 others(27): Show |
31 | HG00673.hp2 HG00741.hp2 HG01515.hp1 others(28): Show |
intron_variant | MODIFIER | c.26+3902dupA | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46301824 | ||||||
chr2:46301824 | G | GAA | 73 | a0001c0001t0001g0002 a0001c0001t0001g0063 a0001c0001t0001g0064 others(70): Show |
74 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(71): Show |
intron_variant | MODIFIER | c.26+3901_26+3902dup others(2): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46301824 | ||||||
chr2:46302032 | T | C | 1 | a0001c0001t0004g0180 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.26+4095T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46302032 | |||||||
chr2:46302112 | T | TTC | 29 | a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0057 others(26): Show |
30 | HG00741.hp2 HG02145.hp2 HG02257.hp2 others(27): Show |
intron_variant | MODIFIER | c.26+4181_26+4182dup others(2): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46302112 | ||||||
chr2:46302118 | C | CTCTCTGT others(7): Show |
1 | a0001c0001t0002g0061 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.26+4182_26+4183ins others(14): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46302118 | ||||||
chr2:46302118 | C | CTCTGTGT others(1): Show |
5 | a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 others(2): Show |
5 | HG00735.hp1 HG01257.hp1 HG01516.hp1 others(2): Show |
intron_variant | MODIFIER | c.26+4182_26+4183ins others(8): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46302118 | ||||||
chr2:46302118 | C | CTCTGTGT others(3): Show |
66 | a0001c0001t0001g0002 a0001c0001t0001g0068 a0001c0001t0001g0069 others(63): Show |
67 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(64): Show |
intron_variant | MODIFIER | c.26+4182_26+4183ins others(10): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46302118 | ||||||
chr2:46302118 | C | CTCTGTGT others(5): Show |
6 | a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 others(3): Show |
6 | HG01168.hp2 HG01993.hp1 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.26+4182_26+4183ins others(12): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46302118 | ||||||
chr2:46302118 | C | CTCTGTGT others(7): Show |
1 | a0001c0001t0016g0127 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.26+4182_26+4183ins others(14): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46302118 | ||||||
chr2:46302118 | C | CTGTGTGT others(3): Show |
1 | a0001c0001t0001g0145 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.26+4204_26+4213dup others(10): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46302118 | ||||||
chr2:46302118 | CTG | C | 114 | a0001c0001t0001g0007 a0001c0001t0001g0190 a0001c0001t0001g0198 others(111): Show |
117 | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(114): Show |
intron_variant | MODIFIER | c.26+4212_26+4213del others(2): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46302118 | ||||||
chr2:46302118 | CTGTGTG | C | 7 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0017 others(4): Show |
7 | HG02647.hp1 HG03491.hp1 HG03942.hp1 others(4): Show |
intron_variant | MODIFIER | c.26+4208_26+4213del others(6): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46302118 | ||||||
chr2:46302120 | G | C | 81 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0051 others(78): Show |
86 | HG00099.hp2 HG00408.hp2 HG00621.hp2 others(83): Show |
intron_variant | MODIFIER | c.26+4183G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46302120 | |||||||
chr2:46302122 | G | C | 62 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0142 others(59): Show |
67 | HG00099.hp2 HG00408.hp2 HG00621.hp2 others(64): Show |
intron_variant | MODIFIER | c.26+4185G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46302122 | |||||||
chr2:46302124 | G | GTTTGTT | 3 | a0001c0001t0018g0185 a0001c0001t0036g0186 a0001c0001t0037g0184 |
3 | HG01433.hp1 HG02132.hp2 HG02735.hp2 |
intron_variant | MODIFIER | c.26+4188_26+4189ins others(6): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46302124 | ||||||
chr2:46302126 | G | C | 5 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0017 others(2): Show |
5 | HG02647.hp1 HG03491.hp1 HG03942.hp1 others(2): Show |
intron_variant | MODIFIER | c.26+4189G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46302126 | |||||||
chr2:46302128 | G | A | 1 | a0001c0001t0002g0062 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.26+4191G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46302128 | |||||||
chr2:46302149 | T | C | 4 | a0001c0001t0011g0138 a0001c0001t0011g0140 a0001c0001t0026g0286 others(1): Show |
4 | HG02717.hp2 HG03225.hp1 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.26+4212T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46302149 | |||||||
chr2:46302160 | C | CG | 29 | a0001c0001t0001g0004 a0001c0001t0001g0146 a0001c0001t0001g0212 others(26): Show |
29 | HG00323.hp2 HG00621.hp1 HG00673.hp1 others(26): Show |
intron_variant | MODIFIER | c.26+4234dupG | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46302160 | ||||||
chr2:46302163 | G | C | 78 | a0001c0001t0001g0002 a0001c0001t0001g0063 a0001c0001t0001g0064 others(75): Show |
79 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(76): Show |
intron_variant | MODIFIER | c.26+4226G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46302163 | |||||||
chr2:46302163 | G | T | 1 | a0001c0001t0001g0136 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.26+4226G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46302163 | |||||||
chr2:46302291 | T | C | 3 | a0001c0001t0011g0138 a0001c0001t0011g0140 a0003c0004t0021g0139 |
3 | HG02717.hp2 HG03225.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.26+4354T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46302291 | |||||||
chr2:46302445 | G | T | 1 | a0003c0003t0009g0317 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.26+4508G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46302445 | |||||||
chr2:46302645 | C | A | 4 | a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0178 others(1): Show |
4 | HG02896.hp2 HG03041.hp2 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.26+4708C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46302645 | |||||||
chr2:46302649 | G | A | 2 | a0001c0001t0001g0142 a0001c0001t0023g0141 |
2 | HG03130.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.26+4712G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46302649 | |||||||
chr2:46302649 | G | C | 1 | a0003c0003t0009g0317 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.26+4712G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46302649 | |||||||
chr2:46302698 | T | G | 1 | a0001c0001t0001g0306 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.26+4761T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46302698 | |||||||
chr2:46302734 | G | GA | 49 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0051 others(46): Show |
52 | HG00408.hp2 HG00621.hp2 HG00741.hp1 others(49): Show |
intron_variant | MODIFIER | c.26+4821dupA | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46302734 | ||||||
chr2:46302734 | GA | G | 12 | a0001c0001t0001g0129 a0001c0001t0001g0197 a0001c0001t0001g0282 others(9): Show |
12 | HG00673.hp1 HG01433.hp1 HG01515.hp1 others(9): Show |
intron_variant | MODIFIER | c.26+4821delA | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46302734 | ||||||
chr2:46302734 | GAAAAAAA | G | 13 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0142 others(10): Show |
14 | HG00099.hp2 HG00673.hp2 HG01074.hp1 others(11): Show |
intron_variant | MODIFIER | c.26+4815_26+4821del others(7): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46302734 | ||||||
chr2:46302734 | GAAAAAAA others(1): Show |
G | 75 | a0001c0001t0001g0002 a0001c0001t0001g0063 a0001c0001t0001g0064 others(72): Show |
76 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(73): Show |
intron_variant | MODIFIER | c.26+4814_26+4821del others(8): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46302734 | ||||||
chr2:46302734 | GAAAAAAA others(5): Show |
G | 36 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0017 others(33): Show |
36 | HG00738.hp1 HG01081.hp2 HG01109.hp1 others(33): Show |
intron_variant | MODIFIER | c.26+4810_26+4821del others(12): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46302734 | ||||||
chr2:46302735 | A | G | 1 | a0001c0001t0001g0210 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.26+4798A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46302735 | |||||||
chr2:46302800 | G | A | 1 | a0002c0002t0005g0014 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.26+4863G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46302800 | |||||||
chr2:46302807 | C | T | 1 | a0003c0003t0009g0317 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.26+4870C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46302807 | |||||||
chr2:46302865 | A | G | 2 | a0001c0001t0001g0142 a0001c0001t0023g0141 |
2 | HG03130.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.26+4928A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46302865 | |||||||
chr2:46302939 | G | A | 70 | a0001c0001t0001g0002 a0001c0001t0001g0063 a0001c0001t0001g0064 others(67): Show |
71 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(68): Show |
intron_variant | MODIFIER | c.26+5002G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46302939 | |||||||
chr2:46303187 | G | A | 1 | a0002c0002t0043g0039 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.26+5250G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46303187 | |||||||
chr2:46303197 | C | G | 3 | a0001c0001t0018g0185 a0001c0001t0036g0186 a0001c0001t0037g0184 |
3 | HG01433.hp1 HG02132.hp2 HG02735.hp2 |
intron_variant | MODIFIER | c.26+5260C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46303197 | |||||||
chr2:46303253 | G | A | 1 | a0001c0001t0001g0070 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.26+5316G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46303253 | |||||||
chr2:46303370 | A | G | 1 | a0001c0001t0002g0116 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.26+5433A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46303370 | |||||||
chr2:46303792 | G | A | 1 | a0002c0002t0001g0208 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.26+5855G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46303792 | |||||||
chr2:46303828 | A | G | 6 | a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0118 others(3): Show |
6 | HG01168.hp1 HG01257.hp2 HG01258.hp1 others(3): Show |
intron_variant | MODIFIER | c.26+5891A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46303828 | |||||||
chr2:46303919 | C | T | 31 | a0001c0001t0001g0295 a0001c0001t0001g0301 a0001c0001t0001g0302 others(28): Show |
32 | HG00099.hp2 HG00738.hp1 HG01074.hp1 others(29): Show |
intron_variant | MODIFIER | c.26+5982C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46303919 | |||||||
chr2:46304044 | C | T | 2 | a0001c0001t0001g0136 a0003c0004t0006g0143 |
2 | HG01884.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.26+6107C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46304044 | |||||||
chr2:46304264 | A | G | 1 | a0001c0001t0001g0281 | 1 | NA19082.hp2 | intron_variant | MODIFIER | c.26+6327A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46304264 | |||||||
chr2:46304320 | G | T | 10 | a0001c0001t0001g0295 a0001c0001t0005g0027 a0001c0001t0005g0030 others(7): Show |
10 | HG00738.hp1 HG01243.hp1 HG01884.hp1 others(7): Show |
intron_variant | MODIFIER | c.26+6383G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46304320 | |||||||
chr2:46304587 | A | G | 4 | a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0002g0013 others(1): Show |
4 | HG03491.hp1 HG03942.hp1 NA18953.hp2 others(1): Show |
intron_variant | MODIFIER | c.26+6650A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46304587 | |||||||
chr2:46304667 | A | G | 66 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0017 others(63): Show |
68 | HG00099.hp2 HG00673.hp2 HG00738.hp1 others(65): Show |
intron_variant | MODIFIER | c.26+6730A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46304667 | |||||||
chr2:46304818 | CTT | C | 16 | a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0057 others(13): Show |
17 | HG02145.hp2 HG02559.hp2 HG02572.hp2 others(14): Show |
intron_variant | MODIFIER | c.26+6884_26+6885del others(2): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46304818 | ||||||
chr2:46304826 | C | G | 23 | a0001c0001t0001g0295 a0001c0001t0005g0027 a0001c0001t0005g0030 others(20): Show |
23 | HG00738.hp1 HG01081.hp2 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.26+6889C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46304826 | |||||||
chr2:46305616 | T | C | 3 | a0001c0001t0018g0185 a0001c0001t0036g0186 a0001c0001t0037g0184 |
3 | HG01433.hp1 HG02132.hp2 HG02735.hp2 |
intron_variant | MODIFIER | c.26+7679T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46305616 | |||||||
chr2:46305717 | T | TC | 307 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(304): Show |
316 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(313): Show |
intron_variant | MODIFIER | c.26+7786dupC | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46305717 | ||||||
chr2:46305801 | C | A | 1 | a0001c0005t0018g0183 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.26+7864C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46305801 | |||||||
chr2:46305899 | G | C | 1 | a0001c0001t0001g0072 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.26+7962G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46305899 | |||||||
chr2:46306237 | T | C | 123 | a0001c0001t0001g0002 a0001c0001t0001g0063 a0001c0001t0001g0064 others(120): Show |
125 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(122): Show |
intron_variant | MODIFIER | c.26+8300T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46306237 | |||||||
chr2:46306413 | T | G | 123 | a0001c0001t0001g0002 a0001c0001t0001g0063 a0001c0001t0001g0064 others(120): Show |
125 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(122): Show |
intron_variant | MODIFIER | c.26+8476T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46306413 | |||||||
chr2:46306765 | C | T | 1 | a0001c0001t0002g0119 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.26+8828C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46306765 | |||||||
chr2:46306768 | T | A | 1 | a0001c0001t0005g0187 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.26+8831T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46306768 | |||||||
chr2:46306864 | G | A | 3 | a0001c0001t0001g0075 a0001c0001t0002g0074 a0001c0005t0001g0073 |
3 | HG00639.hp2 HG01261.hp1 HG01358.hp2 |
intron_variant | MODIFIER | c.26+8927G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46306864 | |||||||
chr2:46306957 | A | G | 1 | a0001c0001t0004g0280 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.26+9020A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46306957 | |||||||
chr2:46307046 | C | A | 1 | a0003c0004t0006g0143 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.26+9109C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46307046 | |||||||
chr2:46307081 | T | C | 83 | a0001c0001t0001g0002 a0001c0001t0001g0063 a0001c0001t0001g0064 others(80): Show |
84 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(81): Show |
intron_variant | MODIFIER | c.26+9144T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46307081 | |||||||
chr2:46307089 | G | A | 1 | a0001c0001t0001g0209 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.26+9152G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46307089 | |||||||
chr2:46307091 | A | G | 4 | a0001c0001t0005g0187 a0001c0001t0018g0185 a0001c0001t0036g0186 others(1): Show |
4 | HG01433.hp1 HG01978.hp1 HG02132.hp2 others(1): Show |
intron_variant | MODIFIER | c.26+9154A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46307091 | |||||||
chr2:46307164 | G | C | 1 | a0002c0002t0014g0047 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.26+9227G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46307164 | |||||||
chr2:46307199 | A | G | 122 | a0001c0001t0001g0002 a0001c0001t0001g0063 a0001c0001t0001g0064 others(119): Show |
124 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(121): Show |
intron_variant | MODIFIER | c.26+9262A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46307199 | |||||||
chr2:46307234 | G | A | 3 | a0001c0001t0018g0185 a0001c0001t0036g0186 a0001c0001t0037g0184 |
3 | HG01433.hp1 HG02132.hp2 HG02735.hp2 |
intron_variant | MODIFIER | c.26+9297G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46307234 | |||||||
chr2:46307445 | G | A | 1 | a0001c0001t0001g0210 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.26+9508G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46307445 | |||||||
chr2:46307524 | G | C | 2 | a0001c0001t0040g0015 a0002c0002t0005g0016 |
2 | HG02486.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.26+9587G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46307524 | |||||||
chr2:46307677 | T | C | 3 | a0001c0001t0040g0015 a0002c0002t0005g0016 a0002c0002t0043g0039 |
3 | HG02486.hp1 HG02630.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.26+9740T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46307677 | |||||||
chr2:46307705 | T | C | 1 | a0002c0002t0005g0018 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.26+9768T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46307705 | |||||||
chr2:46307716 | G | A | 25 | a0001c0001t0001g0142 a0001c0001t0001g0295 a0001c0001t0005g0027 others(22): Show |
25 | HG00738.hp1 HG01081.hp2 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.26+9779G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46307716 | |||||||
chr2:46307764 | G | A | 1 | a0001c0001t0001g0211 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.26+9827G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46307764 | |||||||
chr2:46307797 | T | C | 2 | a0001c0001t0001g0068 a0001c0001t0001g0069 |
2 | HG02735.hp1 HG03688.hp2 |
intron_variant | MODIFIER | c.26+9860T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46307797 | |||||||
chr2:46307861 | T | A | 4 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0145 others(1): Show |
4 | HG01928.hp2 HG01993.hp2 HG02056.hp1 others(1): Show |
intron_variant | MODIFIER | c.26+9924T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46307861 | |||||||
chr2:46307862 | C | A | 4 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0145 others(1): Show |
4 | HG01928.hp2 HG01993.hp2 HG02056.hp1 others(1): Show |
intron_variant | MODIFIER | c.26+9925C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46307862 | |||||||
chr2:46308063 | T | C | 1 | a0001c0001t0001g0298 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.26+10126T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46308063 | |||||||
chr2:46308117 | G | T | 3 | a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0035g0066 |
3 | HG00735.hp1 HG01257.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.26+10180G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46308117 | |||||||
chr2:46308131 | C | T | 1 | a0001c0001t0005g0187 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.26+10194C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46308131 | |||||||
chr2:46308377 | G | A | 5 | a0001c0001t0005g0038 a0002c0002t0019g0019 a0002c0002t0020g0020 others(2): Show |
5 | HG01109.hp1 HG02572.hp1 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.26+10440G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46308377 | |||||||
chr2:46308452 | C | CT | 27 | a0001c0001t0001g0295 a0001c0001t0005g0027 a0001c0001t0005g0030 others(24): Show |
27 | HG00738.hp1 HG01081.hp2 HG01109.hp1 others(24): Show |
intron_variant | MODIFIER | c.26+10523dupT | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46308452 | ||||||
chr2:46308460 | T | G | 2 | a0001c0001t0001g0212 a0002c0002t0015g0296 |
2 | HG02965.hp2 NA18957.hp1 |
intron_variant | MODIFIER | c.26+10523T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46308460 | |||||||
chr2:46308460 | T | TGG | 46 | a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 others(43): Show |
46 | HG00323.hp1 HG00639.hp1 HG00639.hp2 others(43): Show |
intron_variant | MODIFIER | c.26+10533_26+10534d others(4): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46308460 | ||||||
chr2:46308460 | T | TGGG | 25 | a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0101 others(22): Show |
25 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(22): Show |
intron_variant | MODIFIER | c.26+10532_26+10534d others(5): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46308460 | ||||||
chr2:46308460 | T | TTG | 6 | a0001c0001t0001g0002 a0001c0001t0001g0077 a0001c0001t0001g0078 others(3): Show |
7 | HG01256.hp2 HG01258.hp2 HG01928.hp2 others(4): Show |
intron_variant | MODIFIER | c.26+10523_26+10524i others(4): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46308460 | |||||||
chr2:46308461 | G | T | 2 | a0001c0001t0001g0136 a0003c0004t0006g0143 |
2 | HG01884.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.26+10524G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46308461 | |||||||
chr2:46308463 | G | C | 7 | a0001c0001t0001g0197 a0001c0001t0001g0213 a0001c0001t0001g0214 others(4): Show |
7 | HG00544.hp2 HG02523.hp1 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.26+10526G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46308463 | |||||||
chr2:46308495 | T | A | 1 | a0001c0001t0001g0150 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.26+10558T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46308495 | |||||||
chr2:46308496 | A | G | 33 | a0001c0001t0001g0295 a0001c0001t0001g0301 a0001c0001t0001g0302 others(30): Show |
34 | HG00099.hp2 HG00673.hp2 HG00738.hp1 others(31): Show |
intron_variant | MODIFIER | c.26+10559A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46308496 | |||||||
chr2:46308496 | A | T | 3 | a0001c0001t0001g0136 a0001c0001t0005g0187 a0003c0004t0006g0143 |
3 | HG01884.hp2 HG01978.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.26+10559A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46308496 | |||||||
chr2:46308503 | AT | A | 40 | a0001c0001t0001g0136 a0001c0001t0001g0295 a0001c0001t0001g0301 others(37): Show |
41 | HG00099.hp2 HG00673.hp2 HG00738.hp1 others(38): Show |
intron_variant | MODIFIER | c.26+10567delT | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46308503 | |||||||
chr2:46308523 | A | G | 1 | a0001c0001t0001g0279 | 1 | NA19076.hp2 | intron_variant | MODIFIER | c.26+10586A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46308523 | |||||||
chr2:46308595 | T | G | 3 | a0001c0001t0011g0138 a0001c0001t0011g0140 a0003c0004t0021g0139 |
3 | HG02717.hp2 HG03225.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.26+10658T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46308595 | |||||||
chr2:46308644 | G | A | 1 | a0001c0001t0001g0150 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.26+10707G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46308644 | |||||||
chr2:46308745 | T | C | 2 | a0001c0001t0001g0151 a0002c0002t0001g0181 |
2 | NA19005.hp1 NA19079.hp2 |
intron_variant | MODIFIER | c.26+10808T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46308745 | |||||||
chr2:46308785 | C | A | 190 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(187): Show |
196 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(193): Show |
intron_variant | MODIFIER | c.26+10848C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46308785 | |||||||
chr2:46308836 | A | G | 1 | a0001c0001t0001g0278 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.26+10899A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46308836 | |||||||
chr2:46308933 | G | A | 23 | a0001c0001t0001g0295 a0001c0001t0005g0027 a0001c0001t0005g0030 others(20): Show |
23 | HG00738.hp1 HG01081.hp2 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.26+10996G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46308933 | |||||||
chr2:46309036 | G | C | 8 | a0001c0001t0001g0136 a0001c0001t0005g0187 a0001c0001t0011g0138 others(5): Show |
8 | HG01884.hp2 HG01978.hp1 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.26+11099G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46309036 | |||||||
chr2:46309056 | G | A | 6 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0017 others(3): Show |
6 | HG02055.hp2 HG02647.hp1 HG03491.hp1 others(3): Show |
intron_variant | MODIFIER | c.26+11119G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46309056 | |||||||
chr2:46309258 | A | T | 1 | a0001c0001t0001g0298 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.26+11321A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46309258 | |||||||
chr2:46309603 | A | G | 1 | a0001c0001t0001g0306 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.26+11666A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46309603 | |||||||
chr2:46309620 | G | T | 1 | a0001c0001t0004g0277 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.26+11683G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46309620 | |||||||
chr2:46309686 | C | T | 2 | a0001c0001t0001g0202 a0001c0001t0001g0276 |
2 | HG02080.hp2 HG02155.hp1 |
intron_variant | MODIFIER | c.26+11749C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46309686 | |||||||
chr2:46309689 | A | G | 2 | a0001c0001t0001g0115 a0002c0002t0001g0117 |
2 | HG00408.hp1 HG02056.hp2 |
intron_variant | MODIFIER | c.26+11752A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46309689 | |||||||
chr2:46309812 | A | T | 3 | a0001c0001t0001g0100 a0001c0001t0001g0125 a0003c0003t0006g0071 |
3 | HG01256.hp1 HG01891.hp2 HG01993.hp1 |
intron_variant | MODIFIER | c.26+11875A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46309812 | |||||||
chr2:46309917 | C | T | 76 | a0001c0001t0001g0002 a0001c0001t0001g0063 a0001c0001t0001g0064 others(73): Show |
77 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(74): Show |
intron_variant | MODIFIER | c.26+11980C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46309917 | |||||||
chr2:46309952 | T | G | 3 | a0001c0001t0011g0138 a0001c0001t0011g0140 a0003c0004t0021g0139 |
3 | HG02717.hp2 HG03225.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.26+12015T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46309952 | |||||||
chr2:46309970 | C | A | 22 | a0001c0001t0001g0295 a0001c0001t0005g0027 a0001c0001t0005g0030 others(19): Show |
22 | HG00738.hp1 HG01081.hp2 HG01109.hp1 others(19): Show |
intron_variant | MODIFIER | c.26+12033C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46309970 | |||||||
chr2:46310000 | A | G | 2 | a0003c0003t0006g0304 a0004c0007t0013g0175 |
2 | HG02886.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.26+12063A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46310000 | |||||||
chr2:46310008 | C | G | 1 | a0002c0014t0005g0026 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.26+12071C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46310008 | |||||||
chr2:46310126 | G | C | 3 | a0001c0001t0011g0138 a0001c0001t0011g0140 a0003c0004t0021g0139 |
3 | HG02717.hp2 HG03225.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.26+12189G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46310126 | |||||||
chr2:46310151 | C | T | 16 | a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0057 others(13): Show |
17 | HG02145.hp2 HG02559.hp2 HG02572.hp2 others(14): Show |
intron_variant | MODIFIER | c.26+12214C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46310151 | |||||||
chr2:46310214 | A | ACTTTGTC others(41): Show |
1 | a0002c0002t0043g0039 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.26+12305_26+12352d others(50): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46310214 | ||||||
chr2:46310300 | G | T | 1 | a0001c0001t0004g0280 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.26+12363G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46310300 | |||||||
chr2:46310353 | G | C | 1 | a0001c0001t0004g0180 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.26+12416G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46310353 | |||||||
chr2:46310450 | T | G | 5 | a0001c0001t0001g0130 a0001c0001t0002g0131 a0001c0001t0018g0185 others(2): Show |
5 | HG01433.hp1 HG02132.hp2 HG02735.hp2 others(2): Show |
intron_variant | MODIFIER | c.26+12513T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46310450 | |||||||
chr2:46310465 | A | G | 124 | a0001c0001t0001g0002 a0001c0001t0001g0063 a0001c0001t0001g0064 others(121): Show |
126 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(123): Show |
intron_variant | MODIFIER | c.26+12528A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46310465 | |||||||
chr2:46310629 | T | G | 3 | a0001c0001t0011g0138 a0001c0001t0011g0140 a0003c0004t0021g0139 |
3 | HG02717.hp2 HG03225.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.26+12692T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46310629 | |||||||
chr2:46310633 | C | T | 1 | a0001c0005t0018g0183 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.26+12696C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46310633 | |||||||
chr2:46310652 | C | T | 1 | a0001c0001t0001g0274 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.26+12715C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46310652 | |||||||
chr2:46310669 | A | G | 8 | a0001c0001t0001g0136 a0001c0001t0005g0187 a0001c0001t0011g0138 others(5): Show |
8 | HG01884.hp2 HG01978.hp1 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.26+12732A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46310669 | |||||||
chr2:46310671 | C | G | 5 | a0001c0001t0001g0130 a0001c0001t0002g0131 a0001c0001t0018g0185 others(2): Show |
5 | HG01433.hp1 HG02132.hp2 HG02735.hp2 others(2): Show |
intron_variant | MODIFIER | c.26+12734C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46310671 | |||||||
chr2:46310696 | T | A | 1 | a0002c0002t0043g0039 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.26+12759T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46310696 | |||||||
chr2:46310756 | T | C | 1 | a0002c0002t0005g0014 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.26+12819T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46310756 | |||||||
chr2:46310885 | C | CT | 47 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0146 others(44): Show |
50 | HG00408.hp2 HG00621.hp2 HG00741.hp2 others(47): Show |
intron_variant | MODIFIER | c.26+12957dupT | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46310885 | ||||||
chr2:46310894 | T | A | 1 | a0001c0001t0001g0209 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.26+12957T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46310894 | |||||||
chr2:46310899 | C | T | 3 | a0001c0001t0001g0273 a0001c0001t0001g0298 a0001c0001t0030g0059 |
3 | HG01074.hp2 HG02129.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.26+12962C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46310899 | |||||||
chr2:46310909 | C | T | 29 | a0001c0001t0001g0295 a0001c0001t0001g0301 a0001c0001t0001g0302 others(26): Show |
30 | HG00099.hp2 HG00673.hp2 HG00738.hp1 others(27): Show |
intron_variant | MODIFIER | c.26+12972C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46310909 | |||||||
chr2:46311201 | G | T | 7 | a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0010g0003 others(4): Show |
8 | HG00099.hp2 HG00673.hp2 HG01074.hp1 others(5): Show |
intron_variant | MODIFIER | c.26+13264G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46311201 | |||||||
chr2:46311295 | T | A | 1 | a0001c0001t0005g0187 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.26+13358T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46311295 | |||||||
chr2:46311389 | G | A | 2 | a0001c0001t0001g0142 a0001c0001t0023g0141 |
2 | HG03130.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.26+13452G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46311389 | |||||||
chr2:46311426 | T | A | 17 | a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0057 others(14): Show |
18 | HG02145.hp2 HG02559.hp2 HG02572.hp2 others(15): Show |
intron_variant | MODIFIER | c.26+13489T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46311426 | |||||||
chr2:46311481 | T | C | 1 | a0001c0001t0007g0285 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.26+13544T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46311481 | |||||||
chr2:46311618 | A | G | 2 | a0001c0001t0001g0113 a0001c0001t0001g0114 |
2 | HG01071.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.26+13681A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46311618 | |||||||
chr2:46311655 | G | A | 91 | a0001c0001t0001g0007 a0001c0001t0001g0190 a0001c0001t0001g0197 others(88): Show |
93 | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(90): Show |
intron_variant | MODIFIER | c.26+13718G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46311655 | |||||||
chr2:46311709 | T | C | 5 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0017 others(2): Show |
5 | HG02647.hp1 HG03491.hp1 HG03942.hp1 others(2): Show |
intron_variant | MODIFIER | c.26+13772T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46311709 | |||||||
chr2:46311872 | G | A | 5 | a0001c0001t0001g0004 a0002c0002t0001g0152 a0002c0002t0001g0153 others(2): Show |
6 | HG02630.hp1 HG02895.hp1 HG02897.hp2 others(3): Show |
intron_variant | MODIFIER | c.26+13935G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46311872 | |||||||
chr2:46311887 | G | A | 1 | a0001c0001t0004g0012 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.26+13950G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46311887 | |||||||
chr2:46311920 | G | A | 1 | a0001c0001t0037g0184 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.26+13983G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46311920 | |||||||
chr2:46311958 | C | A | 1 | a0001c0001t0044g0216 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.26+14021C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46311958 | |||||||
chr2:46311958 | C | T | 22 | a0001c0001t0001g0295 a0001c0001t0005g0027 a0001c0001t0005g0030 others(19): Show |
22 | HG00738.hp1 HG01081.hp2 HG01109.hp1 others(19): Show |
intron_variant | MODIFIER | c.26+14021C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46311958 | |||||||
chr2:46312005 | G | T | 2 | a0001c0001t0001g0142 a0001c0001t0023g0141 |
2 | HG03130.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.26+14068G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46312005 | |||||||
chr2:46312095 | T | C | 1 | a0001c0001t0001g0270 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.26+14158T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46312095 | |||||||
chr2:46312164 | G | A | 1 | a0001c0001t0001g0210 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.26+14227G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46312164 | |||||||
chr2:46312327 | G | A | 1 | a0003c0004t0006g0143 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.26+14390G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46312327 | |||||||
chr2:46312497 | CTATTA | C | 5 | a0001c0001t0004g0043 a0001c0001t0004g0044 a0002c0002t0001g0182 others(2): Show |
5 | HG00741.hp2 HG02257.hp2 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.26+14562_26+14566d others(7): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46312497 | ||||||
chr2:46312552 | T | A | 1 | a0001c0001t0004g0012 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.26+14615T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46312552 | |||||||
chr2:46312617 | T | C | 1 | a0001c0001t0001g0155 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.26+14680T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46312617 | |||||||
chr2:46312663 | C | CT | 7 | a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0002g0131 others(4): Show |
7 | HG01433.hp1 HG01884.hp2 HG02132.hp2 others(4): Show |
intron_variant | MODIFIER | c.26+14729dupT | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46312663 | ||||||
chr2:46312673 | C | G | 1 | a0003c0004t0006g0143 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.26+14736C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46312673 | |||||||
chr2:46313053 | C | T | 5 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0017 others(2): Show |
5 | HG02647.hp1 HG03491.hp1 HG03942.hp1 others(2): Show |
intron_variant | MODIFIER | c.26+15116C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46313053 | |||||||
chr2:46313233 | C | G | 2 | a0001c0006t0029g0195 a0002c0015t0031g0194 |
2 | HG03195.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.26+15296C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46313233 | |||||||
chr2:46313300 | C | T | 1 | a0001c0001t0001g0269 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.26+15363C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46313300 | |||||||
chr2:46313309 | G | A | 1 | a0001c0001t0001g0136 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.26+15372G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46313309 | |||||||
chr2:46313310 | G | A | 5 | a0001c0001t0001g0130 a0001c0001t0002g0131 a0001c0001t0018g0185 others(2): Show |
5 | HG01433.hp1 HG02132.hp2 HG02735.hp2 others(2): Show |
intron_variant | MODIFIER | c.26+15373G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46313310 | |||||||
chr2:46313401 | C | G | 1 | a0002c0002t0001g0117 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.26+15464C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46313401 | |||||||
chr2:46313438 | G | GTTAT | 138 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(135): Show |
142 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(139): Show |
intron_variant | MODIFIER | c.26+15528_26+15531d others(6): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46313438 | ||||||
chr2:46313438 | G | GTTATTTA others(1): Show |
9 | a0001c0001t0001g0081 a0001c0001t0002g0040 a0001c0001t0002g0041 others(6): Show |
9 | HG01257.hp2 HG01258.hp1 HG01346.hp2 others(6): Show |
intron_variant | MODIFIER | c.26+15524_26+15531d others(10): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46313438 | ||||||
chr2:46313438 | G | GTTATTTA others(5): Show |
5 | a0001c0001t0001g0130 a0001c0001t0002g0131 a0001c0001t0018g0185 others(2): Show |
5 | HG01433.hp1 HG02132.hp2 HG02735.hp2 others(2): Show |
intron_variant | MODIFIER | c.26+15520_26+15531d others(14): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46313438 | ||||||
chr2:46313438 | GTTATTTA others(5): Show |
G | 1 | a0001c0001t0007g0174 | 1 | NA19067.hp2 | intron_variant | MODIFIER | c.26+15520_26+15531d others(14): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46313438 | ||||||
chr2:46313492 | G | T | 4 | a0001c0001t0040g0015 a0002c0002t0005g0014 a0002c0002t0005g0016 others(1): Show |
4 | HG02055.hp2 HG02486.hp1 HG02630.hp2 others(1): Show |
intron_variant | MODIFIER | c.26+15555G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46313492 | |||||||
chr2:46313569 | G | A | 2 | a0001c0001t0001g0136 a0003c0004t0006g0143 |
2 | HG01884.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.26+15632G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46313569 | |||||||
chr2:46313584 | G | A | 2 | a0001c0001t0005g0027 a0001c0001t0041g0028 |
2 | HG02622.hp2 HG02647.hp2 |
intron_variant | MODIFIER | c.26+15647G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46313584 | |||||||
chr2:46313626 | A | G | 2 | a0001c0001t0001g0136 a0003c0004t0006g0143 |
2 | HG01884.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.26+15689A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46313626 | |||||||
chr2:46313642 | G | A | 1 | a0001c0001t0001g0297 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.26+15705G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46313642 | |||||||
chr2:46313676 | T | G | 1 | a0002c0002t0005g0016 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.26+15739T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46313676 | |||||||
chr2:46314006 | A | T | 5 | a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0010g0003 others(2): Show |
6 | HG00099.hp2 HG01074.hp1 HG01099.hp2 others(3): Show |
intron_variant | MODIFIER | c.26+16069A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46314006 | |||||||
chr2:46314037 | T | C | 113 | a0001c0001t0001g0002 a0001c0001t0001g0063 a0001c0001t0001g0064 others(110): Show |
115 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(112): Show |
intron_variant | MODIFIER | c.26+16100T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46314037 | |||||||
chr2:46314053 | C | CA | 5 | a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0010g0003 others(2): Show |
6 | HG00099.hp2 HG01074.hp1 HG01099.hp2 others(3): Show |
intron_variant | MODIFIER | c.26+16121dupA | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46314053 | ||||||
chr2:46314115 | C | T | 1 | a0001c0001t0002g0272 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.26+16178C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46314115 | |||||||
chr2:46314147 | C | A | 22 | a0001c0001t0001g0295 a0001c0001t0005g0027 a0001c0001t0005g0030 others(19): Show |
22 | HG00738.hp1 HG01081.hp2 HG01109.hp1 others(19): Show |
intron_variant | MODIFIER | c.26+16210C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46314147 | |||||||
chr2:46314235 | G | A | 21 | a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0057 others(18): Show |
22 | HG00741.hp2 HG02145.hp2 HG02257.hp2 others(19): Show |
intron_variant | MODIFIER | c.26+16298G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46314235 | |||||||
chr2:46314715 | G | A | 1 | a0001c0001t0001g0011 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.26+16778G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46314715 | |||||||
chr2:46315066 | G | A | 3 | a0001c0001t0001g0054 a0001c0001t0004g0052 a0003c0003t0006g0053 |
3 | HG02572.hp2 HG02717.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.26+17129G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46315066 | |||||||
chr2:46315168 | G | A | 5 | a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0010g0003 others(2): Show |
6 | HG00099.hp2 HG01074.hp1 HG01099.hp2 others(3): Show |
intron_variant | MODIFIER | c.26+17231G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46315168 | |||||||
chr2:46315269 | C | T | 61 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0017 others(58): Show |
63 | HG00099.hp2 HG00738.hp1 HG01074.hp1 others(60): Show |
intron_variant | MODIFIER | c.26+17332C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46315269 | |||||||
chr2:46315310 | C | T | 5 | a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0010g0003 others(2): Show |
6 | HG00099.hp2 HG01074.hp1 HG01099.hp2 others(3): Show |
intron_variant | MODIFIER | c.26+17373C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46315310 | |||||||
chr2:46315854 | T | C | 1 | a0003c0003t0009g0317 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.26+17917T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46315854 | |||||||
chr2:46315942 | T | C | 1 | a0002c0002t0005g0014 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.26+18005T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46315942 | |||||||
chr2:46315990 | G | A | 1 | a0002c0002t0019g0019 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.26+18053G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46315990 | |||||||
chr2:46316066 | C | G | 1 | a0002c0002t0005g0014 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.26+18129C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46316066 | |||||||
chr2:46316182 | A | AT | 30 | a0001c0001t0001g0295 a0001c0001t0001g0301 a0001c0001t0001g0302 others(27): Show |
31 | HG00099.hp2 HG00738.hp1 HG01074.hp1 others(28): Show |
intron_variant | MODIFIER | c.26+18254dupT | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46316182 | ||||||
chr2:46316199 | C | T | 5 | a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0010g0003 others(2): Show |
6 | HG00099.hp2 HG01074.hp1 HG01099.hp2 others(3): Show |
intron_variant | MODIFIER | c.26+18262C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46316199 | |||||||
chr2:46316256 | AC | A | 17 | a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0057 others(14): Show |
18 | HG02145.hp2 HG02559.hp2 HG02572.hp2 others(15): Show |
intron_variant | MODIFIER | c.26+18322delC | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46316256 | ||||||
chr2:46316259 | C | T | 46 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0017 others(43): Show |
47 | HG00099.hp2 HG00738.hp1 HG01074.hp1 others(44): Show |
intron_variant | MODIFIER | c.26+18322C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46316259 | |||||||
chr2:46316366 | C | G | 3 | a0001c0001t0001g0054 a0001c0001t0004g0052 a0003c0003t0006g0053 |
3 | HG02572.hp2 HG02717.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.26+18429C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46316366 | |||||||
chr2:46316541 | A | G | 1 | a0001c0005t0018g0183 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.26+18604A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46316541 | |||||||
chr2:46316639 | A | G | 2 | a0001c0001t0005g0187 a0003c0004t0006g0143 |
2 | HG01884.hp2 HG01978.hp1 |
intron_variant | MODIFIER | c.26+18702A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46316639 | |||||||
chr2:46316641 | A | C | 2 | a0001c0001t0005g0187 a0003c0004t0006g0143 |
2 | HG01884.hp2 HG01978.hp1 |
intron_variant | MODIFIER | c.26+18704A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46316641 | |||||||
chr2:46316673 | T | C | 1 | a0001c0001t0001g0217 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.26+18736T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46316673 | |||||||
chr2:46316677 | G | A | 1 | a0001c0001t0001g0281 | 1 | NA19082.hp2 | intron_variant | MODIFIER | c.26+18740G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46316677 | |||||||
chr2:46316704 | G | A | 3 | a0001c0001t0040g0015 a0002c0002t0005g0016 a0002c0002t0043g0039 |
3 | HG02486.hp1 HG02630.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.26+18767G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46316704 | |||||||
chr2:46316759 | G | GT | 23 | a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0057 others(20): Show |
24 | HG00741.hp2 HG02145.hp2 HG02257.hp2 others(21): Show |
intron_variant | MODIFIER | c.26+18828dupT | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46316759 | ||||||
chr2:46316855 | T | C | 1 | a0001c0001t0001g0082 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.26+18918T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46316855 | |||||||
chr2:46316857 | G | A | 1 | a0001c0001t0001g0199 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.26+18920G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46316857 | |||||||
chr2:46316888 | T | G | 1 | a0003c0003t0009g0317 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.26+18951T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46316888 | |||||||
chr2:46317231 | T | G | 4 | a0001c0001t0040g0015 a0002c0002t0005g0014 a0002c0002t0005g0016 others(1): Show |
4 | HG02055.hp2 HG02486.hp1 HG02630.hp2 others(1): Show |
intron_variant | MODIFIER | c.26+19294T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46317231 | |||||||
chr2:46317232 | T | C | 1 | a0002c0014t0005g0026 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.26+19295T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46317232 | |||||||
chr2:46317267 | G | T | 1 | a0003c0004t0006g0143 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.26+19330G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46317267 | |||||||
chr2:46317382 | T | C | 1 | a0003c0004t0006g0143 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.26+19445T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46317382 | |||||||
chr2:46317394 | C | T | 25 | a0001c0001t0001g0295 a0001c0001t0005g0027 a0001c0001t0005g0030 others(22): Show |
25 | HG00738.hp1 HG01081.hp2 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.26+19457C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46317394 | |||||||
chr2:46317476 | G | A | 1 | a0001c0001t0001g0101 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.26+19539G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46317476 | |||||||
chr2:46317548 | A | G | 1 | a0001c0001t0005g0187 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.26+19611A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46317548 | |||||||
chr2:46317657 | A | G | 4 | a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0178 others(1): Show |
4 | HG02896.hp2 HG03041.hp2 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.26+19720A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46317657 | |||||||
chr2:46317804 | C | T | 1 | a0001c0001t0003g0268 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.26+19867C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46317804 | |||||||
chr2:46317805 | G | A | 2 | a0001c0001t0001g0083 a0001c0001t0001g0084 |
2 | HG01346.hp1 HG01952.hp2 |
intron_variant | MODIFIER | c.26+19868G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46317805 | |||||||
chr2:46317846 | G | A | 4 | a0001c0001t0001g0136 a0002c0002t0005g0014 a0002c0002t0043g0039 others(1): Show |
4 | HG01884.hp2 HG02055.hp2 HG02630.hp2 others(1): Show |
intron_variant | MODIFIER | c.26+19909G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46317846 | |||||||
chr2:46317922 | C | A | 1 | a0001c0001t0001g0276 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.26+19985C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46317922 | |||||||
chr2:46318097 | C | T | 1 | a0001c0001t0001g0267 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.26+20160C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46318097 | |||||||
chr2:46318099 | T | C | 105 | a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 others(102): Show |
107 | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(104): Show |
intron_variant | MODIFIER | c.26+20162T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46318099 | |||||||
chr2:46318181 | T | TAC | 57 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0145 others(54): Show |
61 | HG00099.hp2 HG00408.hp2 HG00621.hp2 others(58): Show |
intron_variant | MODIFIER | c.26+20260_26+20261d others(4): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46318181 | ||||||
chr2:46318181 | T | TACAC | 28 | a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0057 others(25): Show |
29 | HG00741.hp2 HG01433.hp1 HG01884.hp2 others(26): Show |
intron_variant | MODIFIER | c.26+20258_26+20261d others(6): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46318181 | ||||||
chr2:46318181 | T | TACACAC | 133 | a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 others(130): Show |
135 | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(132): Show |
intron_variant | MODIFIER | c.26+20256_26+20261d others(8): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46318181 | ||||||
chr2:46318181 | T | TACACACA others(1): Show |
78 | a0001c0001t0001g0002 a0001c0001t0001g0063 a0001c0001t0001g0064 others(75): Show |
79 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(76): Show |
intron_variant | MODIFIER | c.26+20254_26+20261d others(10): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46318181 | ||||||
chr2:46318400 | G | A | 156 | a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 others(153): Show |
159 | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(156): Show |
intron_variant | MODIFIER | c.26+20463G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46318400 | |||||||
chr2:46318424 | C | T | 2 | a0001c0001t0001g0178 a0001c0001t0004g0149 |
2 | HG03041.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.26+20487C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46318424 | |||||||
chr2:46318463 | C | A | 1 | a0001c0001t0004g0218 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.26+20526C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46318463 | |||||||
chr2:46318489 | T | C | 1 | a0001c0001t0001g0051 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.26+20552T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46318489 | |||||||
chr2:46318495 | G | A | 2 | a0001c0001t0007g0223 a0002c0002t0019g0029 |
2 | HG01255.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.26+20558G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46318495 | |||||||
chr2:46318584 | G | A | 5 | a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0010g0003 others(2): Show |
6 | HG00099.hp2 HG01074.hp1 HG01099.hp2 others(3): Show |
intron_variant | MODIFIER | c.26+20647G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46318584 | |||||||
chr2:46318679 | G | T | 26 | a0001c0001t0001g0142 a0001c0001t0001g0278 a0001c0001t0001g0295 others(23): Show |
26 | HG00738.hp1 HG01081.hp2 HG01109.hp1 others(23): Show |
intron_variant | MODIFIER | c.26+20742G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46318679 | |||||||
chr2:46319088 | A | C | 2 | a0001c0001t0002g0040 a0001c0001t0002g0041 |
2 | HG01257.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.26+21151A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46319088 | |||||||
chr2:46319133 | A | G | 1 | a0002c0002t0001g0126 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.26+21196A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46319133 | |||||||
chr2:46319177 | A | G | 93 | a0001c0001t0001g0007 a0001c0001t0001g0125 a0001c0001t0001g0129 others(90): Show |
95 | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(92): Show |
intron_variant | MODIFIER | c.26+21240A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46319177 | |||||||
chr2:46319347 | G | A | 1 | a0001c0001t0001g0011 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.26+21410G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46319347 | |||||||
chr2:46319586 | A | G | 4 | a0001c0001t0001g0265 a0001c0001t0001g0276 a0001c0001t0010g0191 others(1): Show |
4 | HG00673.hp2 HG02080.hp2 NA18971.hp1 others(1): Show |
intron_variant | MODIFIER | c.26+21649A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46319586 | |||||||
chr2:46319779 | A | G | 2 | a0001c0001t0011g0138 a0001c0001t0011g0140 |
2 | HG02717.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.26+21842A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46319779 | |||||||
chr2:46319851 | G | A | 34 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0010 others(31): Show |
37 | HG00408.hp2 HG02074.hp1 HG02132.hp1 others(34): Show |
intron_variant | MODIFIER | c.26+21914G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46319851 | |||||||
chr2:46319930 | G | A | 1 | a0001c0001t0001g0011 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.26+21993G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46319930 | |||||||
chr2:46319932 | G | C | 2 | a0001c0001t0001g0130 a0001c0001t0002g0131 |
2 | HG03491.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.26+21995G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46319932 | |||||||
chr2:46320340 | A | T | 1 | a0001c0001t0001g0011 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.26+22403A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46320340 | |||||||
chr2:46320355 | G | A | 245 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0011 others(242): Show |
249 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(246): Show |
intron_variant | MODIFIER | c.26+22418G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46320355 | |||||||
chr2:46320461 | A | G | 1 | a0001c0001t0040g0015 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.26+22524A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46320461 | |||||||
chr2:46320521 | G | T | 1 | a0001c0001t0002g0099 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.26+22584G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46320521 | |||||||
chr2:46320535 | C | T | 2 | a0001c0001t0001g0313 a0002c0002t0043g0039 |
2 | HG02630.hp2 NA20752.hp1 |
intron_variant | MODIFIER | c.26+22598C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46320535 | |||||||
chr2:46320584 | T | C | 2 | a0002c0002t0015g0189 a0003c0003t0033g0188 |
2 | HG02109.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.26+22647T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46320584 | |||||||
chr2:46320656 | T | C | 1 | a0001c0001t0010g0144 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.26+22719T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46320656 | |||||||
chr2:46320793 | T | C | 1 | a0001c0001t0001g0269 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.26+22856T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46320793 | |||||||
chr2:46320820 | C | G | 18 | a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0057 others(15): Show |
18 | HG01175.hp1 HG02145.hp2 HG02451.hp2 others(15): Show |
intron_variant | MODIFIER | c.26+22883C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46320820 | |||||||
chr2:46320855 | G | C | 1 | a0002c0002t0001g0157 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.26+22918G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46320855 | |||||||
chr2:46320894 | A | G | 1 | a0002c0002t0005g0014 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.26+22957A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46320894 | |||||||
chr2:46320925 | C | G | 190 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(187): Show |
196 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(193): Show |
intron_variant | MODIFIER | c.26+22988C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46320925 | |||||||
chr2:46320969 | A | G | 1 | a0003c0003t0006g0045 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.26+23032A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46320969 | |||||||
chr2:46320970 | G | T | 153 | a0001c0001t0001g0007 a0001c0001t0001g0051 a0001c0001t0001g0054 others(150): Show |
156 | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(153): Show |
intron_variant | MODIFIER | c.26+23033G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46320970 | |||||||
chr2:46321061 | C | T | 2 | a0001c0001t0001g0301 a0001c0001t0001g0302 |
2 | NA18943.hp2 NA18998.hp2 |
intron_variant | MODIFIER | c.26+23124C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46321061 | |||||||
chr2:46321211 | G | A | 298 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(295): Show |
306 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(303): Show |
intron_variant | MODIFIER | c.26+23274G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46321211 | |||||||
chr2:46321610 | T | G | 1 | a0007c0008t0042g0025 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.26+23673T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46321610 | |||||||
chr2:46321691 | C | T | 1 | a0003c0003t0009g0317 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.26+23754C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46321691 | |||||||
chr2:46321696 | G | A | 1 | a0003c0003t0009g0317 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.26+23759G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46321696 | |||||||
chr2:46321756 | G | A | 2 | a0001c0001t0001g0130 a0001c0001t0002g0131 |
2 | HG03491.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.26+23819G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46321756 | |||||||
chr2:46321767 | A | C | 8 | a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0301 others(5): Show |
9 | HG00735.hp1 HG01074.hp1 HG01099.hp2 others(6): Show |
intron_variant | MODIFIER | c.26+23830A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46321767 | |||||||
chr2:46321901 | G | C | 176 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(173): Show |
182 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(179): Show |
intron_variant | MODIFIER | c.26+23964G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46321901 | |||||||
chr2:46321916 | A | C | 1 | a0001c0001t0001g0264 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.26+23979A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46321916 | |||||||
chr2:46321936 | C | T | 4 | a0001c0001t0001g0082 a0001c0001t0001g0112 a0001c0001t0001g0120 others(1): Show |
4 | HG01928.hp1 HG01978.hp2 HG02293.hp2 others(1): Show |
intron_variant | MODIFIER | c.26+23999C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46321936 | |||||||
chr2:46321990 | G | A | 1 | a0001c0001t0001g0224 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.26+24053G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46321990 | |||||||
chr2:46322057 | T | C | 1 | a0001c0001t0001g0136 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.26+24120T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46322057 | |||||||
chr2:46322250 | T | C | 42 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0063 others(39): Show |
44 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(41): Show |
intron_variant | MODIFIER | c.26+24313T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46322250 | |||||||
chr2:46322287 | G | C | 3 | a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0001g0266 |
3 | HG01071.hp2 HG01981.hp2 HG03704.hp1 |
intron_variant | MODIFIER | c.26+24350G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46322287 | |||||||
chr2:46322394 | C | T | 85 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0017 others(82): Show |
88 | HG00408.hp2 HG00544.hp2 HG00621.hp2 others(85): Show |
intron_variant | MODIFIER | c.26+24457C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46322394 | |||||||
chr2:46322425 | G | A | 1 | a0001c0001t0005g0038 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.27-24448G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46322425 | |||||||
chr2:46322616 | C | T | 1 | a0001c0001t0001g0262 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.27-24257C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46322616 | |||||||
chr2:46322696 | G | A | 3 | a0001c0001t0001g0054 a0001c0001t0004g0052 a0003c0003t0006g0053 |
3 | HG02572.hp2 HG02717.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.27-24177G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46322696 | |||||||
chr2:46322732 | T | C | 2 | a0001c0001t0001g0136 a0007c0008t0042g0025 |
2 | NA19030.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.27-24141T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46322732 | |||||||
chr2:46322789 | A | G | 17 | a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0229 others(14): Show |
17 | HG01243.hp1 HG01891.hp2 HG01981.hp1 others(14): Show |
intron_variant | MODIFIER | c.27-24084A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46322789 | |||||||
chr2:46322829 | C | T | 9 | a0001c0001t0004g0044 a0001c0001t0004g0049 a0001c0001t0004g0149 others(6): Show |
9 | HG02145.hp2 HG02258.hp1 HG02559.hp1 others(6): Show |
intron_variant | MODIFIER | c.27-24044C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46322829 | |||||||
chr2:46322830 | G | A | 1 | a0001c0001t0010g0003 | 2 | HG01074.hp1 HG01099.hp2 |
intron_variant | MODIFIER | c.27-24043G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46322830 | |||||||
chr2:46322920 | G | A | 1 | a0002c0002t0001g0236 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.27-23953G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46322920 | |||||||
chr2:46322993 | A | C | 4 | a0001c0001t0001g0136 a0001c0001t0004g0043 a0002c0002t0001g0182 others(1): Show |
4 | HG00741.hp2 HG02257.hp2 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.27-23880A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46322993 | |||||||
chr2:46323036 | A | C | 3 | a0001c0001t0001g0054 a0001c0001t0004g0052 a0003c0003t0006g0053 |
3 | HG02572.hp2 HG02717.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.27-23837A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46323036 | |||||||
chr2:46323189 | G | A | 20 | a0001c0001t0001g0017 a0001c0001t0001g0134 a0001c0001t0001g0150 others(17): Show |
20 | HG00408.hp2 HG01243.hp2 HG02074.hp1 others(17): Show |
intron_variant | MODIFIER | c.27-23684G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46323189 | |||||||
chr2:46323215 | A | C | 21 | a0001c0001t0001g0142 a0001c0001t0001g0209 a0001c0001t0001g0270 others(18): Show |
21 | HG00738.hp1 HG01109.hp1 HG01255.hp1 others(18): Show |
intron_variant | MODIFIER | c.27-23658A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46323215 | |||||||
chr2:46323304 | A | G | 3 | a0003c0003t0006g0304 a0003c0004t0032g0173 a0004c0007t0013g0175 |
3 | HG02886.hp1 HG03195.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.27-23569A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46323304 | |||||||
chr2:46323353 | G | C | 170 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0011 others(167): Show |
174 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(171): Show |
intron_variant | MODIFIER | c.27-23520G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46323353 | |||||||
chr2:46323377 | C | T | 1 | a0001c0001t0001g0276 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.27-23496C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46323377 | |||||||
chr2:46323429 | T | C | 1 | a0007c0008t0042g0025 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.27-23444T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46323429 | |||||||
chr2:46323450 | C | T | 1 | a0001c0001t0001g0136 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.27-23423C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46323450 | |||||||
chr2:46323452 | C | G | 13 | a0001c0001t0001g0292 a0001c0001t0008g0001 a0001c0001t0017g0300 others(10): Show |
14 | HG01884.hp2 HG02055.hp2 HG02145.hp1 others(11): Show |
intron_variant | MODIFIER | c.27-23421C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46323452 | |||||||
chr2:46323579 | G | C | 152 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0011 others(149): Show |
156 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(153): Show |
intron_variant | MODIFIER | c.27-23294G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46323579 | |||||||
chr2:46323630 | G | C | 130 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0017 others(127): Show |
134 | HG00099.hp2 HG00408.hp2 HG00544.hp2 others(131): Show |
intron_variant | MODIFIER | c.27-23243G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46323630 | |||||||
chr2:46323676 | T | C | 1 | a0001c0001t0002g0013 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.27-23197T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46323676 | |||||||
chr2:46323827 | A | G | 1 | a0001c0001t0001g0136 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.27-23046A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46323827 | |||||||
chr2:46324089 | C | T | 14 | a0001c0001t0001g0292 a0001c0001t0008g0001 a0001c0001t0017g0300 others(11): Show |
15 | HG01884.hp2 HG02055.hp2 HG02145.hp1 others(12): Show |
intron_variant | MODIFIER | c.27-22784C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46324089 | |||||||
chr2:46324179 | T | G | 266 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(263): Show |
274 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(271): Show |
intron_variant | MODIFIER | c.27-22694T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46324179 | |||||||
chr2:46324270 | C | T | 1 | a0001c0001t0001g0309 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.27-22603C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46324270 | |||||||
chr2:46324329 | G | A | 149 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0010 others(146): Show |
155 | HG00099.hp2 HG00408.hp2 HG00544.hp2 others(152): Show |
intron_variant | MODIFIER | c.27-22544G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46324329 | |||||||
chr2:46324358 | C | T | 1 | a0001c0001t0001g0136 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.27-22515C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46324358 | |||||||
chr2:46324532 | T | C | 1 | a0001c0001t0001g0212 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.27-22341T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46324532 | |||||||
chr2:46324560 | A | G | 1 | a0001c0001t0001g0227 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.27-22313A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46324560 | |||||||
chr2:46324647 | T | G | 1 | a0003c0003t0006g0045 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.27-22226T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46324647 | |||||||
chr2:46324801 | T | A | 1 | a0001c0001t0001g0270 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.27-22072T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46324801 | |||||||
chr2:46324908 | A | G | 114 | a0001c0001t0001g0007 a0001c0001t0001g0072 a0001c0001t0001g0075 others(111): Show |
116 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(113): Show |
intron_variant | MODIFIER | c.27-21965A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46324908 | |||||||
chr2:46325033 | G | C | 1 | a0001c0001t0001g0282 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.27-21840G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46325033 | |||||||
chr2:46325038 | G | C | 141 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0011 others(138): Show |
145 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(142): Show |
intron_variant | MODIFIER | c.27-21835G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46325038 | |||||||
chr2:46325052 | TGAGCTGA others(12): Show |
T | 1 | a0001c0001t0007g0285 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.27-21816_27-21798d others(21): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46325052 | ||||||
chr2:46325063 | T | A | 2 | a0001c0001t0001g0136 a0002c0002t0043g0039 |
2 | HG02630.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.27-21810T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46325063 | |||||||
chr2:46325079 | G | A | 2 | a0001c0001t0001g0113 a0001c0001t0001g0114 |
2 | HG01071.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.27-21794G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46325079 | |||||||
chr2:46325079 | G | T | 1 | a0001c0001t0001g0224 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.27-21794G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46325079 | |||||||
chr2:46325094 | C | T | 1 | a0001c0001t0001g0051 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.27-21779C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46325094 | |||||||
chr2:46325213 | T | C | 1 | a0001c0001t0001g0136 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.27-21660T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46325213 | |||||||
chr2:46325285 | T | A | 1 | a0002c0002t0043g0039 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.27-21588T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46325285 | |||||||
chr2:46325319 | T | C | 29 | a0001c0001t0001g0005 a0001c0001t0001g0082 a0001c0001t0001g0100 others(26): Show |
31 | HG01074.hp1 HG01074.hp2 HG01099.hp2 others(28): Show |
intron_variant | MODIFIER | c.27-21554T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46325319 | |||||||
chr2:46325344 | T | C | 1 | a0001c0001t0001g0129 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.27-21529T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46325344 | |||||||
chr2:46325437 | G | T | 1 | a0001c0001t0001g0224 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.27-21436G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46325437 | |||||||
chr2:46325462 | T | A | 262 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(259): Show |
270 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(267): Show |
intron_variant | MODIFIER | c.27-21411T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46325462 | |||||||
chr2:46325787 | A | T | 52 | a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0077 others(49): Show |
53 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(50): Show |
intron_variant | MODIFIER | c.27-21086A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46325787 | |||||||
chr2:46325872 | G | A | 2 | a0001c0001t0001g0136 a0002c0002t0043g0039 |
2 | HG02630.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.27-21001G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46325872 | |||||||
chr2:46325905 | A | G | 2 | a0001c0001t0001g0136 a0007c0008t0042g0025 |
2 | NA19030.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.27-20968A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46325905 | |||||||
chr2:46325948 | C | T | 8 | a0001c0001t0001g0093 a0001c0001t0001g0197 a0001c0001t0001g0199 others(5): Show |
8 | HG00673.hp2 HG02080.hp2 NA18971.hp1 others(5): Show |
intron_variant | MODIFIER | c.27-20925C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46325948 | |||||||
chr2:46326003 | C | T | 1 | a0001c0001t0001g0210 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.27-20870C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46326003 | |||||||
chr2:46326024 | A | C | 1 | a0001c0001t0022g0192 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.27-20849A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46326024 | |||||||
chr2:46326157 | G | C | 4 | a0001c0001t0002g0074 a0001c0001t0005g0187 a0001c0005t0001g0073 others(1): Show |
4 | HG00099.hp2 HG00639.hp2 HG01358.hp2 others(1): Show |
intron_variant | MODIFIER | c.27-20716G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46326157 | |||||||
chr2:46326321 | TGGCTTAA others(5): Show |
T | 20 | a0001c0001t0001g0142 a0001c0001t0001g0209 a0001c0001t0001g0278 others(17): Show |
20 | HG00738.hp1 HG00741.hp2 HG01109.hp1 others(17): Show |
intron_variant | MODIFIER | c.27-20548_27-20537d others(14): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46326321 | ||||||
chr2:46326374 | G | A | 1 | a0003c0003t0009g0317 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.27-20499G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46326374 | |||||||
chr2:46326413 | G | T | 1 | a0007c0008t0042g0025 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.27-20460G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46326413 | |||||||
chr2:46326588 | G | A | 1 | a0002c0002t0001g0158 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.27-20285G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46326588 | |||||||
chr2:46326628 | G | A | 1 | a0001c0001t0040g0015 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.27-20245G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46326628 | |||||||
chr2:46326710 | C | A | 1 | a0002c0002t0001g0289 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.27-20163C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46326710 | |||||||
chr2:46326719 | C | T | 1 | a0003c0003t0009g0317 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.27-20154C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46326719 | |||||||
chr2:46326811 | T | C | 1 | a0001c0001t0001g0142 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.27-20062T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46326811 | |||||||
chr2:46326827 | A | G | 153 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0011 others(150): Show |
157 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(154): Show |
intron_variant | MODIFIER | c.27-20046A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46326827 | |||||||
chr2:46326915 | C | T | 2 | a0001c0001t0001g0101 a0001c0001t0001g0266 |
2 | HG01981.hp2 HG03704.hp1 |
intron_variant | MODIFIER | c.27-19958C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46326915 | |||||||
chr2:46326965 | C | T | 1 | a0001c0001t0001g0102 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.27-19908C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46326965 | |||||||
chr2:46327004 | C | T | 1 | a0001c0001t0002g0124 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.27-19869C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46327004 | |||||||
chr2:46327013 | C | G | 1 | a0007c0008t0042g0025 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.27-19860C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46327013 | |||||||
chr2:46327015 | A | T | 1 | a0002c0002t0043g0039 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.27-19858A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46327015 | |||||||
chr2:46327071 | C | G | 23 | a0001c0001t0001g0136 a0001c0001t0001g0278 a0001c0001t0001g0292 others(20): Show |
24 | HG00741.hp2 HG01175.hp1 HG01884.hp2 others(21): Show |
intron_variant | MODIFIER | c.27-19802C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46327071 | |||||||
chr2:46327113 | G | T | 1 | a0001c0001t0001g0202 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.27-19760G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46327113 | |||||||
chr2:46327219 | C | A | 1 | a0001c0001t0004g0280 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.27-19654C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46327219 | |||||||
chr2:46327328 | A | G | 1 | a0001c0001t0001g0136 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.27-19545A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46327328 | |||||||
chr2:46327389 | G | GAGAA | 19 | a0001c0001t0001g0278 a0001c0001t0001g0292 a0001c0001t0004g0043 others(16): Show |
19 | HG00741.hp2 HG01175.hp1 HG02055.hp2 others(16): Show |
intron_variant | MODIFIER | c.27-19483_27-19480d others(6): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46327389 | ||||||
chr2:46327394 | C | G | 176 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0011 others(173): Show |
180 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(177): Show |
intron_variant | MODIFIER | c.27-19479C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46327394 | |||||||
chr2:46327507 | C | T | 270 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(267): Show |
278 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(275): Show |
intron_variant | MODIFIER | c.27-19366C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46327507 | |||||||
chr2:46327598 | G | T | 1 | a0001c0001t0001g0261 | 1 | NA18957.hp2 | intron_variant | MODIFIER | c.27-19275G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46327598 | |||||||
chr2:46327908 | C | T | 7 | a0001c0001t0001g0145 a0001c0001t0001g0202 a0001c0001t0001g0279 others(4): Show |
7 | HG02056.hp1 HG02155.hp1 NA18942.hp1 others(4): Show |
intron_variant | MODIFIER | c.27-18965C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46327908 | |||||||
chr2:46327966 | T | C | 1 | a0002c0002t0043g0039 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.27-18907T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46327966 | |||||||
chr2:46327978 | G | C | 2 | a0001c0001t0018g0185 a0001c0001t0037g0184 |
2 | HG02132.hp2 HG02735.hp2 |
intron_variant | MODIFIER | c.27-18895G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46327978 | |||||||
chr2:46328027 | A | C | 1 | a0001c0001t0001g0136 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.27-18846A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46328027 | |||||||
chr2:46328037 | C | G | 1 | a0001c0001t0010g0144 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.27-18836C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46328037 | |||||||
chr2:46328066 | A | G | 10 | a0001c0001t0001g0142 a0001c0001t0001g0209 a0001c0001t0001g0278 others(7): Show |
10 | HG00738.hp1 HG01255.hp1 HG01884.hp1 others(7): Show |
intron_variant | MODIFIER | c.27-18807A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46328066 | |||||||
chr2:46328082 | A | G | 181 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0011 others(178): Show |
185 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(182): Show |
intron_variant | MODIFIER | c.27-18791A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46328082 | |||||||
chr2:46328124 | A | G | 247 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(244): Show |
254 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(251): Show |
intron_variant | MODIFIER | c.27-18749A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46328124 | |||||||
chr2:46328205 | C | T | 2 | a0001c0001t0001g0273 a0002c0002t0001g0157 |
2 | HG02129.hp1 HG02523.hp2 |
intron_variant | MODIFIER | c.27-18668C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46328205 | |||||||
chr2:46328206 | G | C | 3 | a0001c0001t0002g0237 a0001c0001t0004g0280 a0001c0001t0007g0238 |
3 | NA18951.hp1 NA18983.hp2 NA19088.hp2 |
intron_variant | MODIFIER | c.27-18667G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46328206 | |||||||
chr2:46328244 | G | A | 1 | a0001c0001t0040g0015 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.27-18629G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46328244 | |||||||
chr2:46328255 | G | C | 21 | a0001c0001t0001g0278 a0001c0001t0001g0292 a0001c0001t0001g0293 others(18): Show |
21 | HG00741.hp2 HG01109.hp1 HG02055.hp2 others(18): Show |
intron_variant | MODIFIER | c.27-18618G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46328255 | |||||||
chr2:46328497 | C | G | 1 | a0002c0002t0001g0117 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.27-18376C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46328497 | |||||||
chr2:46328531 | T | C | 284 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(281): Show |
292 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(289): Show |
intron_variant | MODIFIER | c.27-18342T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46328531 | |||||||
chr2:46328568 | A | G | 1 | a0001c0001t0001g0104 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.27-18305A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46328568 | |||||||
chr2:46328638 | C | A | 9 | a0001c0001t0001g0292 a0001c0001t0017g0300 a0002c0002t0001g0152 others(6): Show |
9 | HG02145.hp1 HG02257.hp1 HG02622.hp1 others(6): Show |
intron_variant | MODIFIER | c.27-18235C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46328638 | |||||||
chr2:46328732 | G | A | 4 | a0001c0001t0002g0074 a0001c0001t0005g0187 a0001c0005t0001g0073 others(1): Show |
4 | HG00099.hp2 HG00639.hp2 HG01358.hp2 others(1): Show |
intron_variant | MODIFIER | c.27-18141G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46328732 | |||||||
chr2:46328840 | C | A | 1 | a0002c0002t0043g0039 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.27-18033C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46328840 | |||||||
chr2:46329016 | C | G | 1 | a0002c0002t0001g0117 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.27-17857C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46329016 | |||||||
chr2:46329108 | G | A | 2 | a0001c0001t0001g0063 a0001c0001t0001g0121 |
2 | HG02602.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.27-17765G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46329108 | |||||||
chr2:46329206 | G | A | 75 | a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0057 others(72): Show |
77 | HG00408.hp2 HG00544.hp2 HG00621.hp2 others(74): Show |
intron_variant | MODIFIER | c.27-17667G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46329206 | |||||||
chr2:46329281 | T | G | 3 | a0001c0001t0008g0001 a0002c0002t0043g0039 a0003c0004t0006g0143 |
4 | HG01884.hp2 HG02630.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.27-17592T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46329281 | |||||||
chr2:46329494 | A | C | 275 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(272): Show |
283 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(280): Show |
intron_variant | MODIFIER | c.27-17379A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46329494 | |||||||
chr2:46329518 | G | C | 2 | a0001c0001t0011g0138 a0001c0001t0011g0140 |
2 | HG02717.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.27-17355G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46329518 | |||||||
chr2:46329549 | C | G | 5 | a0001c0001t0001g0293 a0001c0001t0008g0048 a0002c0002t0020g0020 others(2): Show |
5 | HG01109.hp1 HG02970.hp1 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.27-17324C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46329549 | |||||||
chr2:46329560 | G | A | 2 | a0001c0001t0010g0003 a0002c0015t0031g0194 |
3 | HG01074.hp1 HG01099.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.27-17313G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46329560 | |||||||
chr2:46329619 | C | T | 1 | a0001c0001t0017g0230 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.27-17254C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46329619 | |||||||
chr2:46329622 | G | C | 253 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(250): Show |
261 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(258): Show |
intron_variant | MODIFIER | c.27-17251G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46329622 | |||||||
chr2:46329648 | C | T | 1 | a0001c0001t0001g0262 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.27-17225C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46329648 | |||||||
chr2:46329684 | C | T | 96 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0017 others(93): Show |
99 | HG00099.hp2 HG00408.hp2 HG00544.hp2 others(96): Show |
intron_variant | MODIFIER | c.27-17189C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46329684 | |||||||
chr2:46329685 | A | G | 274 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(271): Show |
282 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(279): Show |
intron_variant | MODIFIER | c.27-17188A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46329685 | |||||||
chr2:46329690 | T | C | 91 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0017 others(88): Show |
94 | HG00099.hp2 HG00408.hp2 HG00544.hp2 others(91): Show |
intron_variant | MODIFIER | c.27-17183T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46329690 | |||||||
chr2:46329965 | C | T | 1 | a0001c0001t0040g0015 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.27-16908C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46329965 | |||||||
chr2:46329981 | T | C | 2 | a0001c0001t0001g0136 a0007c0008t0042g0025 |
2 | NA19030.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.27-16892T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46329981 | |||||||
chr2:46330029 | T | C | 3 | a0001c0001t0008g0001 a0002c0002t0043g0039 a0003c0004t0006g0143 |
4 | HG01884.hp2 HG02630.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.27-16844T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46330029 | |||||||
chr2:46330283 | A | G | 1 | a0001c0001t0001g0165 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.27-16590A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46330283 | |||||||
chr2:46330415 | C | T | 3 | a0001c0001t0001g0199 a0001c0001t0001g0265 a0001c0001t0001g0276 |
3 | HG02080.hp2 NA18971.hp1 NA18980.hp2 |
intron_variant | MODIFIER | c.27-16458C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46330415 | |||||||
chr2:46330430 | T | G | 1 | a0002c0002t0001g0157 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.27-16443T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46330430 | |||||||
chr2:46330444 | C | G | 1 | a0004c0007t0013g0058 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.27-16429C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46330444 | |||||||
chr2:46330461 | C | T | 171 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0011 others(168): Show |
176 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(173): Show |
intron_variant | MODIFIER | c.27-16412C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46330461 | |||||||
chr2:46330476 | G | A | 16 | a0001c0001t0001g0292 a0001c0001t0004g0043 a0001c0001t0017g0300 others(13): Show |
16 | HG00741.hp2 HG01175.hp1 HG02145.hp1 others(13): Show |
intron_variant | MODIFIER | c.27-16397G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46330476 | |||||||
chr2:46330505 | G | C | 149 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0011 others(146): Show |
153 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(150): Show |
intron_variant | MODIFIER | c.27-16368G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46330505 | |||||||
chr2:46330508 | C | G | 5 | a0001c0001t0001g0200 a0001c0001t0003g0299 a0002c0002t0001g0126 others(2): Show |
5 | NA18979.hp2 NA19066.hp2 NA19075.hp1 others(2): Show |
intron_variant | MODIFIER | c.27-16365C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46330508 | |||||||
chr2:46330600 | T | A | 1 | a0001c0001t0001g0051 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.27-16273T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46330600 | |||||||
chr2:46330643 | G | C | 2 | a0001c0001t0001g0068 a0001c0001t0001g0069 |
2 | HG02735.hp1 HG03688.hp2 |
intron_variant | MODIFIER | c.27-16230G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46330643 | |||||||
chr2:46330719 | C | T | 1 | a0001c0001t0001g0198 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.27-16154C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46330719 | |||||||
chr2:46330823 | G | T | 281 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(278): Show |
289 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(286): Show |
intron_variant | MODIFIER | c.27-16050G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46330823 | |||||||
chr2:46330851 | G | A | 1 | a0001c0001t0035g0066 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.27-16022G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46330851 | |||||||
chr2:46331069 | T | G | 148 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0011 others(145): Show |
152 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(149): Show |
intron_variant | MODIFIER | c.27-15804T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46331069 | |||||||
chr2:46331086 | A | G | 282 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(279): Show |
290 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(287): Show |
intron_variant | MODIFIER | c.27-15787A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46331086 | |||||||
chr2:46331293 | A | G | 154 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0011 others(151): Show |
158 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(155): Show |
intron_variant | MODIFIER | c.27-15580A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46331293 | |||||||
chr2:46331402 | T | C | 157 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0011 others(154): Show |
162 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(159): Show |
intron_variant | MODIFIER | c.27-15471T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46331402 | |||||||
chr2:46331527 | G | C | 16 | a0001c0001t0001g0292 a0001c0001t0004g0043 a0001c0001t0017g0300 others(13): Show |
16 | HG00741.hp2 HG02145.hp1 HG02257.hp1 others(13): Show |
intron_variant | MODIFIER | c.27-15346G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46331527 | |||||||
chr2:46331581 | C | G | 2 | a0001c0001t0001g0064 a0001c0001t0001g0065 |
2 | HG00735.hp1 HG01257.hp1 |
intron_variant | MODIFIER | c.27-15292C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46331581 | |||||||
chr2:46331651 | CT | C | 6 | a0001c0001t0001g0293 a0001c0001t0008g0048 a0002c0002t0020g0020 others(3): Show |
6 | HG01109.hp1 HG01175.hp1 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.27-15221delT | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46331651 | |||||||
chr2:46331715 | A | G | 1 | a0007c0008t0042g0025 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.27-15158A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46331715 | |||||||
chr2:46331804 | G | T | 2 | a0003c0004t0009g0022 a0003c0004t0009g0024 |
2 | HG01081.hp2 HG02109.hp2 |
intron_variant | MODIFIER | c.27-15069G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46331804 | |||||||
chr2:46331850 | C | T | 4 | a0001c0001t0002g0074 a0001c0001t0005g0187 a0001c0005t0001g0073 others(1): Show |
4 | HG00099.hp2 HG00639.hp2 HG01358.hp2 others(1): Show |
intron_variant | MODIFIER | c.27-15023C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46331850 | |||||||
chr2:46331958 | G | C | 19 | a0001c0001t0001g0292 a0001c0001t0004g0043 a0001c0001t0008g0001 others(16): Show |
20 | HG00741.hp2 HG01884.hp2 HG02145.hp1 others(17): Show |
intron_variant | MODIFIER | c.27-14915G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46331958 | |||||||
chr2:46331967 | G | A | 1 | a0007c0008t0042g0025 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.27-14906G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46331967 | |||||||
chr2:46331968 | T | C | 1 | a0002c0002t0043g0039 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.27-14905T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46331968 | |||||||
chr2:46332099 | A | C | 13 | a0001c0001t0001g0142 a0001c0001t0001g0278 a0001c0001t0005g0030 others(10): Show |
13 | HG00738.hp1 HG01255.hp1 HG01884.hp1 others(10): Show |
intron_variant | MODIFIER | c.27-14774A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332099 | |||||||
chr2:46332134 | A | G | 1 | a0001c0001t0001g0198 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.27-14739A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332134 | |||||||
chr2:46332135 | G | T | 1 | a0001c0001t0002g0099 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.27-14738G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332135 | |||||||
chr2:46332174 | G | A | 1 | a0003c0003t0033g0188 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.27-14699G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332174 | |||||||
chr2:46332183 | C | G | 4 | a0001c0001t0002g0074 a0001c0001t0005g0187 a0001c0005t0001g0073 others(1): Show |
4 | HG00099.hp2 HG00639.hp2 HG01358.hp2 others(1): Show |
intron_variant | MODIFIER | c.27-14690C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332183 | |||||||
chr2:46332203 | A | G | 1 | a0001c0001t0001g0102 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.27-14670A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332203 | |||||||
chr2:46332238 | C | T | 2 | a0001c0001t0001g0063 a0001c0001t0001g0121 |
2 | HG02602.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.27-14635C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332238 | |||||||
chr2:46332273 | G | GAA | 47 | a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0147 others(44): Show |
48 | HG00408.hp2 HG00621.hp2 HG02071.hp1 others(45): Show |
intron_variant | MODIFIER | c.27-14586_27-14585d others(4): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46332273 | ||||||
chr2:46332273 | G | GAAA | 12 | a0001c0001t0001g0004 a0001c0001t0001g0054 a0001c0001t0002g0074 others(9): Show |
13 | HG00099.hp2 HG00639.hp2 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.27-14587_27-14585d others(5): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46332273 | ||||||
chr2:46332273 | GAAAAA | G | 152 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0011 others(149): Show |
156 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(153): Show |
intron_variant | MODIFIER | c.27-14589_27-14585d others(7): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46332273 | ||||||
chr2:46332282 | A | AAT | 7 | a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 others(4): Show |
7 | HG02056.hp2 NA18956.hp1 NA18985.hp1 others(4): Show |
intron_variant | MODIFIER | c.27-14590_27-14589i others(4): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46332282 | ||||||
chr2:46332289 | T | A | 29 | a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0134 others(26): Show |
30 | HG00544.hp2 HG01243.hp2 HG02074.hp1 others(27): Show |
intron_variant | MODIFIER | c.27-14584T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332289 | |||||||
chr2:46332290 | ACG | A | 8 | a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0214 others(5): Show |
8 | HG00544.hp2 HG02135.hp2 HG03486.hp2 others(5): Show |
intron_variant | MODIFIER | c.27-14582_27-14581d others(4): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332290 | |||||||
chr2:46332291 | C | A | 2 | a0001c0006t0029g0195 a0002c0002t0005g0035 |
2 | HG02723.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.27-14582C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332291 | |||||||
chr2:46332291 | C | CGT | 29 | a0001c0001t0001g0004 a0001c0001t0001g0051 a0001c0001t0001g0054 others(26): Show |
31 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(28): Show |
intron_variant | MODIFIER | c.27-14541_27-14540d others(4): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46332291 | ||||||
chr2:46332291 | C | CGTGT | 26 | a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 others(23): Show |
26 | HG00621.hp2 HG02071.hp1 HG02145.hp2 others(23): Show |
intron_variant | MODIFIER | c.27-14543_27-14540d others(6): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46332291 | ||||||
chr2:46332291 | C | CGTGTGT | 4 | a0001c0001t0001g0198 a0002c0002t0003g0232 a0002c0002t0003g0233 others(1): Show |
4 | HG03098.hp1 NA18974.hp1 NA18975.hp2 others(1): Show |
intron_variant | MODIFIER | c.27-14545_27-14540d others(8): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46332291 | ||||||
chr2:46332291 | C | T | 21 | a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0134 others(18): Show |
22 | HG01243.hp2 HG02074.hp1 HG02109.hp1 others(19): Show |
intron_variant | MODIFIER | c.27-14582C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332291 | |||||||
chr2:46332291 | CGT | C | 8 | a0001c0001t0001g0105 a0001c0001t0001g0121 a0001c0001t0001g0209 others(5): Show |
8 | HG00099.hp1 HG01081.hp2 HG01261.hp2 others(5): Show |
intron_variant | MODIFIER | c.27-14541_27-14540d others(4): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46332291 | ||||||
chr2:46332291 | CGTGT | C | 3 | a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0008g0235 |
3 | HG00735.hp1 HG01109.hp2 HG01257.hp1 |
intron_variant | MODIFIER | c.27-14543_27-14540d others(6): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46332291 | ||||||
chr2:46332291 | CGTGTGTG others(3): Show |
C | 2 | a0001c0001t0001g0136 a0002c0002t0043g0039 |
2 | HG02630.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.27-14549_27-14540d others(12): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46332291 | ||||||
chr2:46332291 | CGTGTGTG others(5): Show |
C | 8 | a0001c0001t0001g0293 a0001c0001t0008g0001 a0001c0001t0008g0048 others(5): Show |
9 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(6): Show |
intron_variant | MODIFIER | c.27-14551_27-14540d others(14): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46332291 | ||||||
chr2:46332291 | CGTGTGTG others(7): Show |
C | 3 | a0001c0001t0017g0300 a0002c0002t0001g0152 a0002c0002t0001g0179 |
3 | HG02895.hp1 HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.27-14553_27-14540d others(16): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46332291 | ||||||
chr2:46332291 | CGTGTGTG others(9): Show |
C | 12 | a0001c0001t0001g0292 a0001c0001t0004g0043 a0001c0001t0040g0015 others(9): Show |
12 | HG00741.hp2 HG02055.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.27-14555_27-14540d others(18): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46332291 | ||||||
chr2:46332292 | G | A | 23 | a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0134 others(20): Show |
24 | HG01243.hp2 HG02074.hp1 HG02109.hp1 others(21): Show |
intron_variant | MODIFIER | c.27-14581G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332292 | |||||||
chr2:46332293 | T | C | 21 | a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0134 others(18): Show |
22 | HG01243.hp2 HG02074.hp1 HG02109.hp1 others(19): Show |
intron_variant | MODIFIER | c.27-14580T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332293 | |||||||
chr2:46332294 | G | A | 10 | a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0214 others(7): Show |
10 | HG00544.hp2 HG02135.hp2 HG02723.hp2 others(7): Show |
intron_variant | MODIFIER | c.27-14579G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332294 | |||||||
chr2:46332295 | T | C | 10 | a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0214 others(7): Show |
10 | HG00544.hp2 HG02135.hp2 HG02723.hp2 others(7): Show |
intron_variant | MODIFIER | c.27-14578T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332295 | |||||||
chr2:46332332 | G | A | 9 | a0001c0001t0001g0011 a0001c0001t0001g0155 a0001c0001t0001g0239 others(6): Show |
9 | HG00280.hp1 HG01106.hp1 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.27-14541G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332332 | |||||||
chr2:46332332 | G | GTA | 16 | a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0078 others(13): Show |
16 | HG00140.hp1 HG00639.hp1 HG00642.hp2 others(13): Show |
intron_variant | MODIFIER | c.27-14539_27-14538d others(4): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46332332 | ||||||
chr2:46332332 | G | GTGTA | 30 | a0001c0001t0001g0095 a0001c0001t0001g0106 a0001c0001t0001g0109 others(27): Show |
30 | HG00140.hp2 HG00323.hp1 HG00642.hp1 others(27): Show |
intron_variant | MODIFIER | c.27-14540_27-14539i others(6): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46332332 | ||||||
chr2:46332332 | G | GTGTATAT others(1): Show |
9 | a0001c0001t0001g0142 a0001c0001t0005g0030 a0001c0001t0005g0031 others(6): Show |
9 | HG00738.hp1 HG01884.hp1 HG02451.hp1 others(6): Show |
intron_variant | MODIFIER | c.27-14540_27-14539i others(10): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46332332 | ||||||
chr2:46332332 | G | GTGTGTA | 63 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0075 others(60): Show |
67 | HG00408.hp1 HG00544.hp1 HG01074.hp1 others(64): Show |
intron_variant | MODIFIER | c.27-14540_27-14539i others(8): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46332332 | ||||||
chr2:46332332 | G | GTGTGTAT others(3): Show |
1 | a0001c0001t0007g0223 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.27-14540_27-14539i others(12): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46332332 | ||||||
chr2:46332332 | G | GTGTGTGT others(1): Show |
16 | a0001c0001t0001g0080 a0001c0001t0001g0108 a0001c0001t0001g0210 others(13): Show |
16 | HG00621.hp1 HG00673.hp2 HG01433.hp1 others(13): Show |
intron_variant | MODIFIER | c.27-14540_27-14539i others(10): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46332332 | ||||||
chr2:46332332 | G | GTGTGTGT others(3): Show |
3 | a0001c0001t0001g0200 a0002c0002t0001g0236 a0002c0002t0003g0260 |
3 | HG02071.hp2 NA19066.hp2 NA19082.hp1 |
intron_variant | MODIFIER | c.27-14540_27-14539i others(12): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46332332 | ||||||
chr2:46332338 | A | G | 1 | a0001c0001t0001g0214 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.27-14535A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332338 | |||||||
chr2:46332441 | G | A | 12 | a0001c0001t0001g0142 a0001c0001t0001g0278 a0001c0001t0005g0030 others(9): Show |
12 | HG00738.hp1 HG01255.hp1 HG01884.hp1 others(9): Show |
intron_variant | MODIFIER | c.27-14432G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332441 | |||||||
chr2:46332592 | C | T | 1 | a0001c0001t0040g0015 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.27-14281C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332592 | |||||||
chr2:46332637 | A | T | 252 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(249): Show |
259 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(256): Show |
intron_variant | MODIFIER | c.27-14236A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332637 | |||||||
chr2:46332772 | TCCTCTG | T | 151 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0011 others(148): Show |
155 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(152): Show |
intron_variant | MODIFIER | c.27-14098_27-14093d others(8): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46332772 | ||||||
chr2:46332837 | G | A | 2 | a0001c0001t0023g0141 a0002c0002t0005g0018 |
2 | HG02965.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.27-14036G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332837 | |||||||
chr2:46332945 | T | A | 144 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0011 others(141): Show |
148 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(145): Show |
intron_variant | MODIFIER | c.27-13928T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332945 | |||||||
chr2:46332951 | G | A | 53 | a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0051 others(50): Show |
54 | HG00408.hp2 HG00544.hp2 HG00621.hp2 others(51): Show |
intron_variant | MODIFIER | c.27-13922G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332951 | |||||||
chr2:46332997 | C | T | 1 | a0001c0001t0002g0257 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.27-13876C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332997 | |||||||
chr2:46333238 | C | A | 1 | a0001c0001t0001g0136 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.27-13635C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46333238 | |||||||
chr2:46333320 | C | T | 1 | a0001c0001t0003g0258 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.27-13553C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46333320 | |||||||
chr2:46333505 | T | A | 1 | a0007c0008t0042g0025 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.27-13368T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46333505 | |||||||
chr2:46333505 | T | G | 282 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(279): Show |
290 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(287): Show |
intron_variant | MODIFIER | c.27-13368T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46333505 | |||||||
chr2:46333612 | T | C | 1 | a0001c0001t0001g0136 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.27-13261T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46333612 | |||||||
chr2:46333763 | G | A | 1 | a0003c0003t0006g0193 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.27-13110G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46333763 | |||||||
chr2:46333798 | G | A | 1 | a0001c0001t0001g0278 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.27-13075G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46333798 | |||||||
chr2:46333799 | C | T | 2 | a0001c0001t0001g0108 a0001c0011t0001g0107 |
2 | NA18747.hp2 NA18960.hp2 |
intron_variant | MODIFIER | c.27-13074C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46333799 | |||||||
chr2:46333848 | T | C | 1 | a0001c0001t0001g0147 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.27-13025T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46333848 | |||||||
chr2:46334063 | A | G | 270 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(267): Show |
278 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(275): Show |
intron_variant | MODIFIER | c.27-12810A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46334063 | |||||||
chr2:46334064 | A | G | 9 | a0001c0001t0001g0136 a0001c0001t0004g0043 a0001c0001t0008g0001 others(6): Show |
10 | HG00741.hp2 HG01884.hp2 HG02055.hp2 others(7): Show |
intron_variant | MODIFIER | c.27-12809A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46334064 | |||||||
chr2:46334167 | A | G | 1 | a0003c0003t0033g0188 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.27-12706A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46334167 | |||||||
chr2:46334170 | A | G | 281 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(278): Show |
289 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(286): Show |
intron_variant | MODIFIER | c.27-12703A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46334170 | |||||||
chr2:46334243 | C | T | 1 | a0003c0003t0009g0317 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.27-12630C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46334243 | |||||||
chr2:46334428 | C | T | 1 | a0001c0001t0001g0136 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.27-12445C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46334428 | |||||||
chr2:46334677 | G | A | 281 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(278): Show |
289 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(286): Show |
intron_variant | MODIFIER | c.27-12196G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46334677 | |||||||
chr2:46334761 | A | C | 24 | a0001c0001t0001g0057 a0001c0001t0001g0178 a0001c0001t0001g0209 others(21): Show |
24 | HG01891.hp2 HG02055.hp1 HG02258.hp1 others(21): Show |
intron_variant | MODIFIER | c.27-12112A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46334761 | |||||||
chr2:46334770 | A | G | 1 | a0001c0001t0007g0132 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.27-12103A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46334770 | |||||||
chr2:46334862 | C | T | 1 | a0001c0001t0001g0172 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.27-12011C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46334862 | |||||||
chr2:46334863 | G | A | 1 | a0001c0001t0001g0224 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.27-12010G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46334863 | |||||||
chr2:46334903 | T | C | 16 | a0001c0001t0001g0292 a0001c0001t0004g0043 a0001c0001t0008g0001 others(13): Show |
17 | HG00741.hp2 HG01884.hp2 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.27-11970T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46334903 | |||||||
chr2:46334927 | T | A | 1 | a0001c0001t0001g0224 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.27-11946T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46334927 | |||||||
chr2:46334935 | G | C | 1 | a0001c0001t0001g0063 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.27-11938G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46334935 | |||||||
chr2:46335107 | G | A | 2 | a0001c0001t0023g0141 a0002c0002t0005g0018 |
2 | HG02965.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.27-11766G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46335107 | |||||||
chr2:46335617 | C | G | 1 | a0001c0001t0001g0281 | 1 | NA19082.hp2 | intron_variant | MODIFIER | c.27-11256C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46335617 | |||||||
chr2:46335723 | C | G | 1 | a0001c0001t0001g0171 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.27-11150C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46335723 | |||||||
chr2:46335969 | G | A | 1 | a0001c0010t0016g0307 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.27-10904G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46335969 | |||||||
chr2:46336044 | G | T | 3 | a0001c0001t0040g0015 a0002c0002t0043g0039 a0003c0003t0006g0045 |
3 | HG02630.hp2 HG03041.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.27-10829G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46336044 | |||||||
chr2:46336253 | C | G | 280 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(277): Show |
288 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(285): Show |
intron_variant | MODIFIER | c.27-10620C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46336253 | |||||||
chr2:46336280 | T | A | 1 | a0001c0001t0001g0136 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.27-10593T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46336280 | |||||||
chr2:46336768 | T | G | 2 | a0002c0002t0001g0182 a0002c0002t0004g0042 |
2 | HG02257.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.27-10105T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46336768 | |||||||
chr2:46336805 | C | G | 3 | a0001c0001t0001g0293 a0001c0001t0008g0048 a0003c0003t0009g0021 |
3 | HG01109.hp1 HG02970.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.27-10068C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46336805 | |||||||
chr2:46336846 | G | A | 3 | a0001c0001t0001g0075 a0001c0001t0001g0199 a0001c0001t0010g0144 |
3 | HG01261.hp1 HG01496.hp2 NA18980.hp2 |
intron_variant | MODIFIER | c.27-10027G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46336846 | |||||||
chr2:46336999 | C | G | 1 | a0001c0001t0001g0245 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.27-9874C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46336999 | |||||||
chr2:46337013 | T | C | 1 | a0003c0003t0006g0056 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.27-9860T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46337013 | |||||||
chr2:46337057 | A | G | 2 | a0001c0001t0001g0075 a0001c0001t0010g0144 |
2 | HG01261.hp1 HG01496.hp2 |
intron_variant | MODIFIER | c.27-9816A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46337057 | |||||||
chr2:46337178 | T | C | 9 | a0001c0001t0001g0292 a0001c0001t0017g0300 a0002c0002t0001g0152 others(6): Show |
9 | HG02145.hp1 HG02257.hp1 HG02622.hp1 others(6): Show |
intron_variant | MODIFIER | c.27-9695T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46337178 | |||||||
chr2:46337272 | C | T | 2 | a0001c0001t0001g0075 a0001c0001t0010g0144 |
2 | HG01261.hp1 HG01496.hp2 |
intron_variant | MODIFIER | c.27-9601C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46337272 | |||||||
chr2:46337444 | C | A | 233 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 others(230): Show |
240 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(237): Show |
intron_variant | MODIFIER | c.27-9429C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46337444 | |||||||
chr2:46337826 | C | T | 3 | a0001c0001t0040g0015 a0002c0002t0043g0039 a0003c0003t0006g0045 |
3 | HG02630.hp2 HG03041.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.27-9047C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46337826 | |||||||
chr2:46337864 | T | C | 9 | a0001c0001t0004g0044 a0001c0001t0004g0049 a0001c0001t0004g0149 others(6): Show |
9 | HG02258.hp1 HG02451.hp2 HG02559.hp1 others(6): Show |
intron_variant | MODIFIER | c.27-9009T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46337864 | |||||||
chr2:46337952 | T | G | 282 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(279): Show |
290 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(287): Show |
intron_variant | MODIFIER | c.27-8921T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46337952 | |||||||
chr2:46338226 | T | G | 3 | a0001c0001t0004g0049 a0001c0001t0004g0149 a0001c0001t0004g0305 |
3 | HG03041.hp2 HG03453.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.27-8647T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46338226 | |||||||
chr2:46338383 | T | C | 278 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(275): Show |
286 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(283): Show |
intron_variant | MODIFIER | c.27-8490T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46338383 | |||||||
chr2:46338449 | A | G | 2 | a0001c0001t0001g0075 a0001c0001t0010g0144 |
2 | HG01261.hp1 HG01496.hp2 |
intron_variant | MODIFIER | c.27-8424A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46338449 | |||||||
chr2:46338503 | A | T | 1 | a0001c0001t0001g0227 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.27-8370A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46338503 | |||||||
chr2:46338511 | A | T | 1 | a0007c0008t0042g0025 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.27-8362A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46338511 | |||||||
chr2:46338520 | C | T | 9 | a0001c0001t0001g0075 a0001c0001t0010g0144 a0001c0001t0023g0141 others(6): Show |
9 | HG01261.hp1 HG01496.hp2 HG02055.hp2 others(6): Show |
intron_variant | MODIFIER | c.27-8353C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46338520 | |||||||
chr2:46338672 | T | C | 1 | a0003c0004t0006g0143 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.27-8201T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46338672 | |||||||
chr2:46338711 | G | C | 3 | a0001c0001t0040g0015 a0002c0002t0043g0039 a0003c0003t0006g0045 |
3 | HG02630.hp2 HG03041.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.27-8162G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46338711 | |||||||
chr2:46338712 | C | T | 2 | a0002c0002t0001g0055 a0002c0002t0005g0014 |
2 | HG02055.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.27-8161C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46338712 | |||||||
chr2:46338721 | G | A | 11 | a0001c0001t0001g0200 a0001c0001t0003g0275 a0001c0001t0003g0299 others(8): Show |
11 | HG01081.hp1 HG01106.hp2 HG02071.hp2 others(8): Show |
intron_variant | MODIFIER | c.27-8152G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46338721 | |||||||
chr2:46338841 | G | A | 2 | a0002c0002t0001g0182 a0002c0002t0004g0042 |
2 | HG02257.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.27-8032G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46338841 | |||||||
chr2:46338921 | A | C | 3 | a0001c0001t0040g0015 a0002c0002t0043g0039 a0003c0003t0006g0045 |
3 | HG02630.hp2 HG03041.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.27-7952A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46338921 | |||||||
chr2:46338953 | T | C | 1 | a0007c0008t0042g0025 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.27-7920T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46338953 | |||||||
chr2:46338954 | A | C | 1 | a0007c0008t0042g0025 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.27-7919A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46338954 | |||||||
chr2:46338955 | C | T | 1 | a0003c0004t0006g0143 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.27-7918C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46338955 | |||||||
chr2:46339048 | A | C | 1 | a0007c0008t0042g0025 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.27-7825A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46339048 | |||||||
chr2:46339071 | G | A | 4 | a0001c0001t0023g0141 a0002c0002t0005g0018 a0002c0002t0019g0019 others(1): Show |
4 | HG02965.hp1 HG03139.hp2 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.27-7802G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46339071 | |||||||
chr2:46339212 | A | G | 45 | a0001c0001t0001g0004 a0001c0001t0001g0054 a0001c0001t0001g0075 others(42): Show |
46 | HG00099.hp2 HG00639.hp2 HG01109.hp1 others(43): Show |
intron_variant | MODIFIER | c.27-7661A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46339212 | |||||||
chr2:46339218 | T | G | 39 | a0001c0001t0001g0004 a0001c0001t0001g0054 a0001c0001t0001g0136 others(36): Show |
40 | HG00099.hp2 HG00639.hp2 HG01109.hp1 others(37): Show |
intron_variant | MODIFIER | c.27-7655T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46339218 | |||||||
chr2:46339408 | C | T | 1 | a0001c0001t0001g0051 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.27-7465C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46339408 | |||||||
chr2:46339727 | C | T | 2 | a0002c0002t0003g0251 a0002c0002t0003g0259 |
2 | NA18964.hp2 NA18971.hp2 |
intron_variant | MODIFIER | c.27-7146C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46339727 | |||||||
chr2:46340013 | A | C | 1 | a0005c0009t0004g0228 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.27-6860A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46340013 | |||||||
chr2:46340088 | A | G | 263 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 others(260): Show |
270 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(267): Show |
intron_variant | MODIFIER | c.27-6785A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46340088 | |||||||
chr2:46340100 | C | T | 2 | a0001c0001t0001g0063 a0001c0001t0001g0121 |
2 | HG02602.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.27-6773C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46340100 | |||||||
chr2:46340130 | C | T | 1 | a0002c0002t0001g0153 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.27-6743C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46340130 | |||||||
chr2:46340131 | G | A | 1 | a0001c0001t0001g0270 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.27-6742G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46340131 | |||||||
chr2:46340137 | G | T | 145 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 others(142): Show |
150 | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(147): Show |
intron_variant | MODIFIER | c.27-6736G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46340137 | |||||||
chr2:46340304 | ACTGTCAG others(2): Show |
A | 10 | a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0017g0300 others(7): Show |
10 | HG02145.hp1 HG02257.hp1 HG02622.hp1 others(7): Show |
intron_variant | MODIFIER | c.27-6565_27-6557del others(9): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46340304 | ||||||
chr2:46340760 | C | T | 1 | a0001c0001t0016g0127 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.27-6113C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46340760 | |||||||
chr2:46340777 | G | A | 13 | a0001c0001t0001g0075 a0001c0001t0008g0048 a0001c0001t0010g0144 others(10): Show |
13 | HG01109.hp1 HG01261.hp1 HG01496.hp2 others(10): Show |
intron_variant | MODIFIER | c.27-6096G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46340777 | |||||||
chr2:46340945 | C | T | 1 | a0003c0004t0006g0143 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.27-5928C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46340945 | |||||||
chr2:46340972 | A | G | 2 | a0001c0001t0001g0068 a0001c0001t0001g0069 |
2 | HG02735.hp1 HG03688.hp2 |
intron_variant | MODIFIER | c.27-5901A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46340972 | |||||||
chr2:46341010 | G | A | 3 | a0001c0001t0001g0093 a0001c0001t0001g0197 a0001c0001t0007g0287 |
3 | NA18983.hp1 NA19004.hp1 NA19057.hp2 |
intron_variant | MODIFIER | c.27-5863G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46341010 | |||||||
chr2:46341080 | A | G | 2 | a0001c0001t0001g0054 a0002c0002t0020g0020 |
2 | HG02717.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.27-5793A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46341080 | |||||||
chr2:46341130 | C | G | 2 | a0002c0002t0019g0019 a0002c0002t0019g0029 |
2 | HG03139.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.27-5743C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46341130 | |||||||
chr2:46341155 | A | AT | 3 | a0001c0001t0040g0015 a0002c0002t0043g0039 a0003c0003t0006g0045 |
3 | HG02630.hp2 HG03041.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.27-5713dupT | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46341155 | ||||||
chr2:46341163 | C | T | 3 | a0001c0001t0040g0015 a0002c0002t0043g0039 a0003c0003t0006g0045 |
3 | HG02630.hp2 HG03041.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.27-5710C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46341163 | |||||||
chr2:46341219 | T | C | 1 | a0001c0001t0001g0100 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.27-5654T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46341219 | |||||||
chr2:46341437 | A | G | 1 | a0001c0001t0001g0136 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.27-5436A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46341437 | |||||||
chr2:46341541 | A | G | 2 | a0003c0004t0006g0143 a0007c0008t0042g0025 |
2 | HG01884.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.27-5332A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46341541 | |||||||
chr2:46341745 | T | G | 2 | a0002c0002t0019g0019 a0002c0002t0019g0029 |
2 | HG03139.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.27-5128T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46341745 | |||||||
chr2:46341878 | A | G | 2 | a0003c0004t0006g0143 a0007c0008t0042g0025 |
2 | HG01884.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.27-4995A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46341878 | |||||||
chr2:46342082 | C | A | 1 | a0001c0001t0035g0066 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.27-4791C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46342082 | |||||||
chr2:46342103 | A | G | 1 | a0003c0004t0006g0143 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.27-4770A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46342103 | |||||||
chr2:46342147 | G | A | 4 | a0002c0002t0001g0055 a0002c0002t0001g0182 a0002c0002t0004g0042 others(1): Show |
4 | HG02055.hp2 HG02257.hp2 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.27-4726G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46342147 | |||||||
chr2:46342199 | C | T | 3 | a0001c0001t0040g0015 a0002c0002t0043g0039 a0003c0003t0006g0045 |
3 | HG02630.hp2 HG03041.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.27-4674C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46342199 | |||||||
chr2:46342307 | A | G | 2 | a0001c0001t0040g0015 a0003c0003t0006g0045 |
2 | HG03041.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.27-4566A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46342307 | |||||||
chr2:46342317 | T | C | 8 | a0001c0001t0002g0074 a0001c0001t0005g0187 a0001c0001t0023g0141 others(5): Show |
8 | HG00099.hp2 HG00639.hp2 HG01358.hp2 others(5): Show |
intron_variant | MODIFIER | c.27-4556T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46342317 | |||||||
chr2:46342503 | T | C | 4 | a0001c0001t0040g0015 a0002c0002t0043g0039 a0003c0003t0006g0045 others(1): Show |
4 | HG02630.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.27-4370T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46342503 | |||||||
chr2:46342631 | G | A | 3 | a0001c0001t0001g0136 a0002c0015t0031g0194 a0003c0004t0006g0143 |
3 | HG01884.hp2 HG03195.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.27-4242G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46342631 | |||||||
chr2:46342717 | A | C | 4 | a0001c0001t0040g0015 a0002c0002t0043g0039 a0003c0003t0006g0045 others(1): Show |
4 | HG02630.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.27-4156A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46342717 | |||||||
chr2:46342838 | T | C | 2 | a0001c0001t0023g0141 a0002c0002t0005g0018 |
2 | HG02965.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.27-4035T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46342838 | |||||||
chr2:46342850 | T | G | 6 | a0001c0001t0004g0044 a0001c0001t0004g0049 a0001c0001t0004g0149 others(3): Show |
6 | HG02258.hp1 HG02559.hp1 HG03041.hp2 others(3): Show |
intron_variant | MODIFIER | c.27-4023T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46342850 | |||||||
chr2:46342883 | G | T | 6 | a0001c0001t0001g0075 a0001c0001t0010g0144 a0002c0002t0001g0055 others(3): Show |
6 | HG01261.hp1 HG01496.hp2 HG02055.hp2 others(3): Show |
intron_variant | MODIFIER | c.27-3990G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46342883 | |||||||
chr2:46342945 | G | C | 3 | a0001c0001t0040g0015 a0002c0002t0043g0039 a0003c0003t0006g0045 |
3 | HG02630.hp2 HG03041.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.27-3928G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46342945 | |||||||
chr2:46343051 | CATAG | C | 6 | a0001c0001t0001g0075 a0001c0001t0010g0144 a0002c0002t0001g0055 others(3): Show |
6 | HG01261.hp1 HG01496.hp2 HG02055.hp2 others(3): Show |
intron_variant | MODIFIER | c.27-3814_27-3811del others(4): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46343051 | ||||||
chr2:46343234 | G | T | 1 | a0003c0004t0009g0022 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.27-3639G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46343234 | |||||||
chr2:46343356 | G | A | 1 | a0007c0008t0042g0025 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.27-3517G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46343356 | |||||||
chr2:46343569 | C | G | 43 | a0001c0001t0001g0005 a0001c0001t0001g0077 a0001c0001t0001g0078 others(40): Show |
44 | HG00140.hp1 HG00408.hp1 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.27-3304C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46343569 | |||||||
chr2:46343612 | A | T | 1 | a0007c0008t0042g0025 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.27-3261A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46343612 | |||||||
chr2:46343615 | T | C | 2 | a0001c0001t0001g0002 a0001c0001t0001g0267 |
3 | HG01256.hp2 HG01258.hp2 HG01261.hp2 |
intron_variant | MODIFIER | c.27-3258T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46343615 | |||||||
chr2:46343801 | G | A | 1 | a0001c0001t0008g0001 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.27-3072G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46343801 | |||||||
chr2:46343817 | G | C | 10 | a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0017g0300 others(7): Show |
10 | HG02145.hp1 HG02257.hp1 HG02622.hp1 others(7): Show |
intron_variant | MODIFIER | c.27-3056G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46343817 | |||||||
chr2:46343876 | C | G | 6 | a0001c0001t0001g0075 a0001c0001t0010g0144 a0002c0002t0001g0055 others(3): Show |
6 | HG01261.hp1 HG01496.hp2 HG02055.hp2 others(3): Show |
intron_variant | MODIFIER | c.27-2997C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46343876 | |||||||
chr2:46343878 | C | G | 1 | a0001c0001t0001g0136 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.27-2995C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46343878 | |||||||
chr2:46343986 | G | C | 18 | a0001c0001t0001g0057 a0001c0001t0001g0087 a0001c0001t0001g0088 others(15): Show |
19 | HG02056.hp2 HG02622.hp2 HG02647.hp2 others(16): Show |
intron_variant | MODIFIER | c.27-2887G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46343986 | |||||||
chr2:46344040 | A | T | 19 | a0001c0001t0001g0075 a0001c0001t0001g0292 a0001c0001t0001g0293 others(16): Show |
19 | HG01261.hp1 HG01496.hp2 HG02055.hp2 others(16): Show |
intron_variant | MODIFIER | c.27-2833A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46344040 | |||||||
chr2:46344065 | G | T | 6 | a0001c0001t0001g0075 a0001c0001t0010g0144 a0002c0002t0001g0055 others(3): Show |
6 | HG01261.hp1 HG01496.hp2 HG02055.hp2 others(3): Show |
intron_variant | MODIFIER | c.27-2808G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46344065 | |||||||
chr2:46344104 | C | T | 13 | a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0017g0300 others(10): Show |
13 | HG02145.hp1 HG02257.hp1 HG02622.hp1 others(10): Show |
intron_variant | MODIFIER | c.27-2769C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46344104 | |||||||
chr2:46344171 | T | C | 272 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 others(269): Show |
279 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(276): Show |
intron_variant | MODIFIER | c.27-2702T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46344171 | |||||||
chr2:46344183 | C | A | 3 | a0001c0001t0040g0015 a0002c0002t0043g0039 a0003c0003t0006g0045 |
3 | HG02630.hp2 HG03041.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.27-2690C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46344183 | |||||||
chr2:46344274 | C | T | 1 | a0001c0001t0001g0082 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.27-2599C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46344274 | |||||||
chr2:46344435 | G | C | 1 | a0001c0001t0002g0118 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.27-2438G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46344435 | |||||||
chr2:46344502 | G | T | 1 | a0002c0002t0001g0157 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.27-2371G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46344502 | |||||||
chr2:46344677 | G | C | 1 | a0001c0001t0001g0093 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.27-2196G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46344677 | |||||||
chr2:46345013 | G | A | 8 | a0001c0001t0001g0075 a0001c0001t0010g0144 a0001c0001t0040g0015 others(5): Show |
8 | HG01261.hp1 HG01496.hp2 HG02055.hp2 others(5): Show |
intron_variant | MODIFIER | c.27-1860G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46345013 | |||||||
chr2:46345047 | C | T | 1 | a0001c0001t0001g0011 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.27-1826C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46345047 | |||||||
chr2:46345093 | T | C | 1 | a0003c0004t0006g0143 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.27-1780T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46345093 | |||||||
chr2:46345123 | C | T | 2 | a0001c0001t0001g0075 a0001c0001t0010g0144 |
2 | HG01261.hp1 HG01496.hp2 |
intron_variant | MODIFIER | c.27-1750C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46345123 | |||||||
chr2:46345180 | A | T | 1 | a0002c0002t0020g0020 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.27-1693A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46345180 | |||||||
chr2:46345215 | G | C | 1 | a0001c0001t0001g0136 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.27-1658G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46345215 | |||||||
chr2:46345242 | T | A | 1 | a0001c0001t0001g0051 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.27-1631T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46345242 | |||||||
chr2:46345310 | A | G | 78 | a0001c0001t0001g0004 a0001c0001t0001g0057 a0001c0001t0001g0068 others(75): Show |
80 | HG00280.hp2 HG00323.hp2 HG00621.hp1 others(77): Show |
intron_variant | MODIFIER | c.27-1563A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46345310 | |||||||
chr2:46345314 | C | T | 1 | a0003c0004t0006g0143 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.27-1559C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46345314 | |||||||
chr2:46345344 | A | G | 2 | a0001c0001t0001g0130 a0001c0001t0002g0131 |
2 | HG03491.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.27-1529A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46345344 | |||||||
chr2:46345444 | G | A | 3 | a0001c0001t0001g0054 a0001c0001t0023g0141 a0002c0002t0005g0018 |
3 | HG02717.hp1 HG02965.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.27-1429G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46345444 | |||||||
chr2:46345564 | C | A | 3 | a0003c0003t0006g0053 a0003c0003t0006g0193 a0003c0003t0006g0294 |
3 | HG01175.hp1 HG02145.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.27-1309C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46345564 | |||||||
chr2:46345625 | G | A | 2 | a0001c0001t0040g0015 a0002c0002t0043g0039 |
2 | HG02630.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.27-1248G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46345625 | |||||||
chr2:46345942 | G | T | 2 | a0001c0001t0040g0015 a0002c0002t0043g0039 |
2 | HG02630.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.27-931G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46345942 | |||||||
chr2:46345990 | A | G | 1 | a0001c0001t0001g0150 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.27-883A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46345990 | |||||||
chr2:46346065 | A | G | 2 | a0002c0002t0003g0232 a0002c0002t0003g0233 |
2 | NA18974.hp1 NA18984.hp1 |
intron_variant | MODIFIER | c.27-808A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46346065 | |||||||
chr2:46346071 | C | T | 252 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(249): Show |
257 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(254): Show |
intron_variant | MODIFIER | c.27-802C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46346071 | |||||||
chr2:46346149 | G | T | 2 | a0002c0002t0019g0019 a0002c0002t0019g0029 |
2 | HG03139.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.27-724G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46346149 | |||||||
chr2:46346160 | C | T | 1 | a0002c0002t0003g0260 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.27-713C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46346160 | |||||||
chr2:46346256 | T | C | 31 | a0001c0001t0001g0136 a0001c0001t0001g0214 a0001c0001t0001g0270 others(28): Show |
32 | HG00544.hp2 HG01081.hp2 HG01243.hp1 others(29): Show |
intron_variant | MODIFIER | c.27-617T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46346256 | |||||||
chr2:46346371 | G | A | 1 | a0002c0002t0003g0232 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.27-502G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46346371 | |||||||
chr2:46346372 | C | G | 1 | a0002c0002t0003g0232 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.27-501C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46346372 | |||||||
chr2:46346373 | G | C | 1 | a0002c0002t0003g0232 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.27-500G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46346373 | |||||||
chr2:46346467 | G | A | 1 | a0001c0001t0004g0305 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.27-406G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46346467 | |||||||
chr2:46346494 | G | A | 1 | a0001c0001t0001g0129 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.27-379G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46346494 | |||||||
chr2:46346547 | C | T | 2 | a0001c0001t0001g0075 a0001c0001t0010g0144 |
2 | HG01261.hp1 HG01496.hp2 |
intron_variant | MODIFIER | c.27-326C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46346547 | |||||||
chr2:46346656 | A | G | 1 | a0002c0002t0020g0020 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.27-217A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46346656 | |||||||
chr2:46346841 | T | C | 1 | a0002c0002t0003g0232 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.27-32T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46346841 | |||||||
chr2:46346844 | C | T | 1 | a0002c0002t0003g0232 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.27-29C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46346844 | |||||||
chr2:46346852 | A | C | 1 | a0002c0002t0003g0232 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.27-21A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46346852 | |||||||
chr2:46346854 | C | A | 1 | a0002c0002t0003g0232 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.27-19C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46346854 | |||||||
chr2:46347145 | C | A | 1 | a0002c0002t0003g0232 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.217+82C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46347145 | |||||||
chr2:46347146 | A | G | 1 | a0002c0002t0003g0232 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.217+83A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46347146 | |||||||
chr2:46347147 | G | A | 1 | a0002c0002t0003g0232 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.217+84G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46347147 | |||||||
chr2:46347222 | A | G | 1 | a0001c0001t0001g0002 | 2 | HG01256.hp2 HG01258.hp2 |
intron_variant | MODIFIER | c.217+159A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46347222 | |||||||
chr2:46347306 | C | T | 1 | a0001c0001t0001g0085 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.217+243C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46347306 | |||||||
chr2:46347606 | T | C | 8 | a0001c0001t0001g0293 a0001c0001t0008g0001 a0001c0001t0008g0048 others(5): Show |
9 | HG01109.hp1 HG02055.hp2 HG02257.hp2 others(6): Show |
intron_variant | MODIFIER | c.217+543T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46347606 | |||||||
chr2:46347699 | C | A | 1 | a0001c0001t0001g0123 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.217+636C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46347699 | |||||||
chr2:46347758 | C | A | 1 | a0001c0001t0001g0240 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.217+695C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46347758 | |||||||
chr2:46347847 | G | A | 1 | a0001c0001t0001g0267 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.217+784G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46347847 | |||||||
chr2:46347872 | C | T | 13 | a0001c0001t0001g0054 a0001c0001t0004g0052 a0001c0001t0023g0141 others(10): Show |
13 | HG01175.hp1 HG01891.hp2 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.217+809C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46347872 | |||||||
chr2:46348184 | C | T | 3 | a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0003g0231 |
3 | NA18973.hp1 NA18973.hp2 NA19062.hp2 |
intron_variant | MODIFIER | c.217+1121C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46348184 | |||||||
chr2:46348249 | A | G | 83 | a0001c0001t0001g0004 a0001c0001t0001g0057 a0001c0001t0001g0080 others(80): Show |
85 | HG00280.hp2 HG00323.hp2 HG00621.hp1 others(82): Show |
intron_variant | MODIFIER | c.217+1186A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46348249 | |||||||
chr2:46348425 | G | C | 2 | a0001c0001t0001g0075 a0001c0001t0010g0144 |
2 | HG01261.hp1 HG01496.hp2 |
intron_variant | MODIFIER | c.217+1362G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46348425 | |||||||
chr2:46348473 | A | G | 2 | a0001c0001t0017g0230 a0001c0001t0017g0300 |
2 | HG01243.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.217+1410A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46348473 | |||||||
chr2:46348592 | C | A | 1 | a0001c0001t0001g0270 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.217+1529C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46348592 | |||||||
chr2:46348652 | C | T | 1 | a0001c0001t0007g0285 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.217+1589C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46348652 | |||||||
chr2:46348659 | C | T | 5 | a0001c0001t0001g0054 a0001c0001t0004g0052 a0001c0001t0023g0141 others(2): Show |
5 | HG02717.hp1 HG02965.hp1 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.217+1596C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46348659 | |||||||
chr2:46348697 | G | A | 1 | a0001c0001t0017g0230 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.217+1634G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46348697 | |||||||
chr2:46348886 | A | C | 1 | a0001c0001t0001g0136 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.217+1823A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46348886 | |||||||
chr2:46349033 | C | G | 170 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 others(167): Show |
174 | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(171): Show |
intron_variant | MODIFIER | c.217+1970C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46349033 | |||||||
chr2:46349103 | A | G | 10 | a0001c0001t0001g0072 a0001c0001t0001g0095 a0001c0001t0001g0100 others(7): Show |
10 | HG00099.hp1 HG00323.hp1 HG01256.hp1 others(7): Show |
intron_variant | MODIFIER | c.217+2040A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46349103 | |||||||
chr2:46349349 | C | T | 176 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 others(173): Show |
180 | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(177): Show |
intron_variant | MODIFIER | c.217+2286C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46349349 | |||||||
chr2:46349434 | T | C | 181 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 others(178): Show |
185 | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(182): Show |
intron_variant | MODIFIER | c.217+2371T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46349434 | |||||||
chr2:46349557 | T | C | 1 | a0007c0008t0042g0025 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.217+2494T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46349557 | |||||||
chr2:46349755 | G | T | 241 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(238): Show |
247 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(244): Show |
intron_variant | MODIFIER | c.217+2692G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46349755 | |||||||
chr2:46349779 | T | C | 5 | a0002c0002t0001g0055 a0002c0002t0001g0182 a0002c0002t0004g0042 others(2): Show |
5 | HG01884.hp2 HG02055.hp2 HG02257.hp2 others(2): Show |
intron_variant | MODIFIER | c.217+2716T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46349779 | |||||||
chr2:46349844 | G | C | 5 | a0002c0002t0014g0046 a0002c0002t0014g0047 a0003c0004t0006g0196 others(2): Show |
5 | HG01081.hp2 HG01891.hp1 HG02109.hp2 others(2): Show |
intron_variant | MODIFIER | c.217+2781G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46349844 | |||||||
chr2:46350023 | T | C | 69 | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0057 others(66): Show |
71 | HG00280.hp2 HG00323.hp2 HG00621.hp1 others(68): Show |
intron_variant | MODIFIER | c.217+2960T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46350023 | |||||||
chr2:46350073 | T | C | 253 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(250): Show |
259 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(256): Show |
intron_variant | MODIFIER | c.217+3010T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46350073 | |||||||
chr2:46350126 | A | C | 255 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(252): Show |
261 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(258): Show |
intron_variant | MODIFIER | c.217+3063A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46350126 | |||||||
chr2:46350160 | G | A | 262 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(259): Show |
268 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(265): Show |
intron_variant | MODIFIER | c.217+3097G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46350160 | |||||||
chr2:46350384 | T | C | 1 | a0001c0001t0001g0214 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.217+3321T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46350384 | |||||||
chr2:46350505 | G | A | 66 | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0057 others(63): Show |
68 | HG00280.hp2 HG00323.hp2 HG00621.hp1 others(65): Show |
intron_variant | MODIFIER | c.217+3442G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46350505 | |||||||
chr2:46350618 | A | G | 1 | a0001c0001t0001g0254 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.217+3555A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46350618 | |||||||
chr2:46350667 | A | G | 9 | a0001c0001t0001g0292 a0002c0002t0001g0152 a0002c0002t0001g0153 others(6): Show |
9 | HG02257.hp1 HG02622.hp1 HG02630.hp1 others(6): Show |
intron_variant | MODIFIER | c.217+3604A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46350667 | |||||||
chr2:46350677 | C | T | 2 | a0002c0014t0005g0026 a0003c0004t0009g0037 |
2 | HG02976.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.217+3614C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46350677 | |||||||
chr2:46350692 | C | T | 1 | a0003c0004t0006g0143 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.217+3629C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46350692 | |||||||
chr2:46350693 | G | A | 1 | a0001c0001t0030g0059 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.217+3630G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46350693 | |||||||
chr2:46350705 | C | T | 3 | a0001c0001t0001g0075 a0001c0001t0010g0144 a0002c0002t0043g0039 |
3 | HG01261.hp1 HG01496.hp2 HG02630.hp2 |
intron_variant | MODIFIER | c.217+3642C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46350705 | |||||||
chr2:46350725 | A | G | 1 | a0003c0003t0033g0188 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.217+3662A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46350725 | |||||||
chr2:46350728 | A | G | 1 | a0001c0001t0001g0240 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.217+3665A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46350728 | |||||||
chr2:46351049 | A | G | 1 | a0001c0001t0001g0010 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.217+3986A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46351049 | |||||||
chr2:46351076 | C | T | 1 | a0001c0001t0002g0124 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.217+4013C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46351076 | |||||||
chr2:46351259 | T | C | 146 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 others(143): Show |
148 | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(145): Show |
intron_variant | MODIFIER | c.217+4196T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46351259 | |||||||
chr2:46351260 | C | G | 262 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(259): Show |
267 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(264): Show |
intron_variant | MODIFIER | c.217+4197C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46351260 | |||||||
chr2:46351267 | C | A | 1 | a0001c0001t0044g0216 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.217+4204C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46351267 | |||||||
chr2:46351303 | C | G | 1 | a0003c0004t0006g0143 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.217+4240C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46351303 | |||||||
chr2:46351312 | T | C | 1 | a0001c0001t0001g0102 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.217+4249T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46351312 | |||||||
chr2:46351391 | T | G | 1 | a0002c0002t0001g0166 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.217+4328T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46351391 | |||||||
chr2:46351774 | G | A | 70 | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0057 others(67): Show |
72 | HG00280.hp2 HG00323.hp2 HG00621.hp1 others(69): Show |
intron_variant | MODIFIER | c.218-4377G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46351774 | |||||||
chr2:46351785 | G | T | 264 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(261): Show |
270 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(267): Show |
intron_variant | MODIFIER | c.218-4366G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46351785 | |||||||
chr2:46351920 | G | T | 1 | a0003c0003t0009g0317 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.218-4231G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46351920 | |||||||
chr2:46351984 | G | A | 1 | a0001c0001t0002g0099 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.218-4167G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46351984 | |||||||
chr2:46352134 | A | G | 79 | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0057 others(76): Show |
81 | HG00280.hp2 HG00323.hp2 HG00621.hp1 others(78): Show |
intron_variant | MODIFIER | c.218-4017A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46352134 | |||||||
chr2:46352143 | G | A | 1 | a0001c0001t0001g0278 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.218-4008G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46352143 | |||||||
chr2:46352177 | C | G | 1 | a0001c0001t0035g0066 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.218-3974C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46352177 | |||||||
chr2:46352199 | T | A | 1 | a0001c0001t0001g0298 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.218-3952T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46352199 | |||||||
chr2:46352209 | T | C | 179 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 others(176): Show |
183 | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(180): Show |
intron_variant | MODIFIER | c.218-3942T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46352209 | |||||||
chr2:46352270 | A | G | 255 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(252): Show |
261 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(258): Show |
intron_variant | MODIFIER | c.218-3881A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46352270 | |||||||
chr2:46352404 | A | G | 2 | a0001c0016t0005g0032 a0002c0002t0020g0033 |
2 | HG02451.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.218-3747A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46352404 | |||||||
chr2:46352454 | A | C | 1 | a0002c0002t0020g0020 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.218-3697A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46352454 | |||||||
chr2:46352469 | G | A | 4 | a0001c0001t0001g0054 a0001c0001t0023g0141 a0002c0002t0005g0018 others(1): Show |
4 | HG02717.hp1 HG02965.hp1 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.218-3682G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46352469 | |||||||
chr2:46352519 | G | A | 75 | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0057 others(72): Show |
77 | HG00280.hp2 HG00323.hp2 HG00621.hp1 others(74): Show |
intron_variant | MODIFIER | c.218-3632G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46352519 | |||||||
chr2:46352536 | G | T | 72 | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0057 others(69): Show |
74 | HG00280.hp2 HG00323.hp2 HG00621.hp1 others(71): Show |
intron_variant | MODIFIER | c.218-3615G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46352536 | |||||||
chr2:46352580 | A | G | 92 | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0057 others(89): Show |
95 | HG00280.hp2 HG00323.hp2 HG00621.hp1 others(92): Show |
intron_variant | MODIFIER | c.218-3571A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46352580 | |||||||
chr2:46352591 | C | T | 121 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 others(118): Show |
123 | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(120): Show |
intron_variant | MODIFIER | c.218-3560C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46352591 | |||||||
chr2:46352659 | G | C | 1 | a0001c0001t0001g0082 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.218-3492G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46352659 | |||||||
chr2:46352708 | A | G | 1 | a0001c0001t0001g0269 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.218-3443A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46352708 | |||||||
chr2:46352742 | T | C | 53 | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0080 others(50): Show |
54 | HG00280.hp2 HG00323.hp2 HG00621.hp1 others(51): Show |
intron_variant | MODIFIER | c.218-3409T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46352742 | |||||||
chr2:46352746 | G | A | 1 | a0001c0001t0001g0150 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.218-3405G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46352746 | |||||||
chr2:46352771 | G | T | 1 | a0001c0001t0001g0011 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.218-3380G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46352771 | |||||||
chr2:46352852 | C | G | 4 | a0001c0001t0001g0080 a0001c0001t0001g0246 a0001c0001t0001g0247 others(1): Show |
4 | HG00621.hp1 HG00673.hp1 HG02080.hp1 others(1): Show |
intron_variant | MODIFIER | c.218-3299C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46352852 | |||||||
chr2:46353305 | G | A | 263 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(260): Show |
269 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(266): Show |
intron_variant | MODIFIER | c.218-2846G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46353305 | |||||||
chr2:46353335 | T | C | 241 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(238): Show |
247 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(244): Show |
intron_variant | MODIFIER | c.218-2816T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46353335 | |||||||
chr2:46353337 | T | C | 1 | a0003c0003t0009g0317 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.218-2814T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46353337 | |||||||
chr2:46353420 | G | A | 1 | a0001c0001t0005g0027 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.218-2731G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46353420 | |||||||
chr2:46353659 | T | C | 2 | a0003c0003t0006g0045 a0003c0003t0006g0304 |
2 | HG03041.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.218-2492T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46353659 | |||||||
chr2:46353684 | G | A | 3 | a0003c0003t0006g0053 a0003c0003t0006g0193 a0003c0003t0006g0294 |
3 | HG01175.hp1 HG02145.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.218-2467G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46353684 | |||||||
chr2:46353760 | T | C | 1 | a0001c0001t0001g0176 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.218-2391T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46353760 | |||||||
chr2:46353788 | C | T | 3 | a0003c0003t0006g0053 a0003c0003t0006g0193 a0003c0003t0006g0294 |
3 | HG01175.hp1 HG02145.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.218-2363C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46353788 | |||||||
chr2:46353888 | A | G | 8 | a0001c0001t0001g0292 a0002c0002t0001g0152 a0002c0002t0001g0153 others(5): Show |
8 | HG02257.hp1 HG02622.hp1 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.218-2263A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46353888 | |||||||
chr2:46353905 | C | G | 1 | a0002c0002t0015g0189 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.218-2246C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46353905 | |||||||
chr2:46353935 | C | G | 246 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(243): Show |
252 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(249): Show |
intron_variant | MODIFIER | c.218-2216C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46353935 | |||||||
chr2:46353948 | C | T | 13 | a0001c0001t0001g0292 a0002c0002t0001g0152 a0002c0002t0001g0153 others(10): Show |
13 | HG01175.hp1 HG01884.hp2 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.218-2203C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46353948 | |||||||
chr2:46354175 | G | A | 1 | a0003c0003t0006g0156 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.218-1976G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46354175 | |||||||
chr2:46354185 | T | G | 3 | a0001c0001t0001g0087 a0003c0004t0008g0222 a0004c0007t0013g0175 |
3 | HG02280.hp2 HG02886.hp1 NA19081.hp2 |
intron_variant | MODIFIER | c.218-1966T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46354185 | |||||||
chr2:46354300 | G | A | 5 | a0002c0002t0001g0055 a0002c0002t0001g0182 a0002c0002t0004g0042 others(2): Show |
5 | HG02055.hp2 HG02257.hp2 HG02451.hp2 others(2): Show |
intron_variant | MODIFIER | c.218-1851G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46354300 | |||||||
chr2:46354304 | A | T | 1 | a0002c0015t0031g0194 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.218-1847A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46354304 | |||||||
chr2:46354314 | C | G | 259 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(256): Show |
265 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(262): Show |
intron_variant | MODIFIER | c.218-1837C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46354314 | |||||||
chr2:46354391 | C | A | 3 | a0003c0003t0006g0053 a0003c0003t0006g0193 a0003c0003t0006g0294 |
3 | HG01175.hp1 HG02145.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.218-1760C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46354391 | |||||||
chr2:46354405 | T | A | 161 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 others(158): Show |
165 | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(162): Show |
intron_variant | MODIFIER | c.218-1746T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46354405 | |||||||
chr2:46354441 | G | A | 1 | a0001c0001t0001g0136 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.218-1710G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46354441 | |||||||
chr2:46354496 | A | C | 1 | a0001c0001t0008g0235 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.218-1655A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46354496 | |||||||
chr2:46354504 | C | T | 249 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(246): Show |
255 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(252): Show |
intron_variant | MODIFIER | c.218-1647C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46354504 | |||||||
chr2:46354593 | C | G | 249 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(246): Show |
255 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(252): Show |
intron_variant | MODIFIER | c.218-1558C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46354593 | |||||||
chr2:46354657 | C | T | 3 | a0003c0003t0006g0053 a0003c0003t0006g0193 a0003c0003t0006g0294 |
3 | HG01175.hp1 HG02145.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.218-1494C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46354657 | |||||||
chr2:46354697 | C | T | 4 | a0002c0002t0001g0055 a0002c0002t0001g0182 a0002c0002t0004g0042 others(1): Show |
4 | HG02055.hp2 HG02257.hp2 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.218-1454C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46354697 | |||||||
chr2:46354711 | C | T | 1 | a0001c0001t0001g0295 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.218-1440C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46354711 | |||||||
chr2:46354870 | C | T | 1 | a0003c0004t0006g0143 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.218-1281C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46354870 | |||||||
chr2:46354880 | C | G | 1 | a0001c0001t0001g0123 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.218-1271C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46354880 | |||||||
chr2:46355039 | C | T | 8 | a0001c0001t0001g0292 a0002c0002t0001g0152 a0002c0002t0001g0153 others(5): Show |
8 | HG02257.hp1 HG02622.hp1 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.218-1112C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46355039 | |||||||
chr2:46355218 | G | A | 2 | a0001c0001t0001g0075 a0001c0001t0010g0144 |
2 | HG01261.hp1 HG01496.hp2 |
intron_variant | MODIFIER | c.218-933G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46355218 | |||||||
chr2:46355243 | G | A | 160 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 others(157): Show |
164 | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(161): Show |
intron_variant | MODIFIER | c.218-908G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46355243 | |||||||
chr2:46355396 | A | G | 3 | a0001c0001t0001g0075 a0001c0001t0010g0144 a0002c0002t0043g0039 |
3 | HG01261.hp1 HG01496.hp2 HG02630.hp2 |
intron_variant | MODIFIER | c.218-755A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46355396 | |||||||
chr2:46355517 | G | T | 9 | a0001c0001t0028g0271 a0002c0014t0005g0026 a0003c0003t0006g0050 others(6): Show |
9 | HG01175.hp1 HG01891.hp2 HG02145.hp1 others(6): Show |
intron_variant | MODIFIER | c.218-634G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46355517 | |||||||
chr2:46355686 | A | C | 1 | a0001c0001t0001g0284 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.218-465A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46355686 | |||||||
chr2:46355730 | C | A | 5 | a0001c0001t0001g0054 a0001c0001t0004g0052 a0001c0001t0023g0141 others(2): Show |
5 | HG02717.hp1 HG02965.hp1 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.218-421C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46355730 | |||||||
chr2:46355752 | A | G | 165 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 others(162): Show |
169 | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(166): Show |
intron_variant | MODIFIER | c.218-399A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46355752 | |||||||
chr2:46356023 | G | C | 3 | a0001c0001t0003g0275 a0001c0001t0012g0096 a0001c0001t0012g0111 |
3 | HG01081.hp1 HG01106.hp2 NA19079.hp1 |
intron_variant | MODIFIER | c.218-128G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46356023 | |||||||
chr2:46356048 | A | T | 47 | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0068 others(44): Show |
48 | HG00323.hp2 HG00621.hp1 HG00673.hp1 others(45): Show |
intron_variant | MODIFIER | c.218-103A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46356048 | |||||||
chr2:46356065 | C | G | 2 | a0002c0002t0019g0019 a0002c0002t0019g0029 |
2 | HG03139.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.218-86C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46356065 | |||||||
chr2:46356082 | T | C | 10 | a0001c0001t0001g0007 a0001c0001t0001g0125 a0001c0001t0001g0190 others(7): Show |
11 | HG00544.hp1 HG01952.hp1 HG01993.hp1 others(8): Show |
intron_variant | MODIFIER | c.218-69T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46356082 | |||||||
chr2:46356096 | C | A | 258 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(255): Show |
264 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(261): Show |
intron_variant | MODIFIER | c.218-55C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46356096 | |||||||
chr2:46356138 | C | CCG | 172 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 others(169): Show |
176 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(173): Show |
intron_variant | MODIFIER | c.218-12_218-11insGC | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr2 | 46356138 | ||||||
chr2:46356139 | C | A | 1 | a0001c0010t0016g0307 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.218-12C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46356139 | |||||||
chr2:46356140 | C | G | 1 | a0001c0001t0001g0065 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.218-11C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46356140 | |||||||
chr2:46356140 | C | T | 186 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 others(183): Show |
190 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(187): Show |
intron_variant | MODIFIER | c.218-11C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46356140 | |||||||
chr2:46356142 | C | CT | 74 | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0054 others(71): Show |
76 | HG00323.hp2 HG00621.hp1 HG00673.hp1 others(73): Show |
splice_region_variant&intron_variant | LOW | c.218-9_218-8insT | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46356142 | |||||||
chr2:46356142 | C | T | 187 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 others(184): Show |
191 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(188): Show |
intron_variant | MODIFIER | c.218-9C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46356142 | |||||||
chr2:46356424 | G | A | 8 | a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0049 others(5): Show |
8 | HG00741.hp2 HG02258.hp1 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.369+122G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 3/15 | chr2 | 46356424 | |||||||
chr2:46356430 | C | T | 1 | a0001c0001t0001g0270 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.369+128C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 3/15 | chr2 | 46356430 | |||||||
chr2:46356454 | G | A | 176 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 others(173): Show |
180 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(177): Show |
intron_variant | MODIFIER | c.369+152G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 3/15 | chr2 | 46356454 | |||||||
chr2:46356570 | T | G | 1 | a0003c0004t0006g0143 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.370-154T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 3/15 | chr2 | 46356570 | |||||||
chr2:46356651 | T | G | 1 | a0001c0005t0018g0183 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.370-73T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 3/15 | chr2 | 46356651 | |||||||
chr2:46356920 | T | G | 68 | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0057 others(65): Show |
70 | HG00323.hp2 HG00621.hp1 HG00673.hp1 others(67): Show |
intron_variant | MODIFIER | c.454+112T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46356920 | |||||||
chr2:46356951 | C | G | 3 | a0003c0003t0006g0053 a0003c0003t0006g0193 a0003c0003t0006g0294 |
3 | HG01175.hp1 HG02145.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.454+143C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46356951 | |||||||
chr2:46356952 | T | C | 1 | a0002c0002t0001g0153 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.454+144T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46356952 | |||||||
chr2:46357376 | A | C | 1 | a0003c0004t0006g0143 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.454+568A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46357376 | |||||||
chr2:46357432 | C | G | 1 | a0003c0004t0006g0143 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.454+624C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46357432 | |||||||
chr2:46357434 | C | T | 169 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 others(166): Show |
172 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(169): Show |
intron_variant | MODIFIER | c.454+626C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46357434 | |||||||
chr2:46357484 | T | C | 1 | a0003c0004t0006g0143 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.454+676T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46357484 | |||||||
chr2:46357633 | C | T | 1 | a0002c0002t0001g0154 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.454+825C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46357633 | |||||||
chr2:46357712 | G | A | 1 | a0001c0001t0001g0005 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.454+904G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46357712 | |||||||
chr2:46357713 | C | T | 258 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(255): Show |
264 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(261): Show |
intron_variant | MODIFIER | c.454+905C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46357713 | |||||||
chr2:46358025 | T | A | 1 | a0001c0001t0003g0299 | 1 | NA19075.hp2 | intron_variant | MODIFIER | c.454+1217T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46358025 | |||||||
chr2:46358066 | C | A | 1 | a0003c0003t0009g0021 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.454+1258C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46358066 | |||||||
chr2:46358345 | G | T | 8 | a0001c0001t0001g0293 a0001c0001t0008g0001 a0001c0001t0008g0048 others(5): Show |
9 | HG01109.hp1 HG02055.hp2 HG02257.hp2 others(6): Show |
intron_variant | MODIFIER | c.454+1537G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46358345 | |||||||
chr2:46358350 | G | A | 3 | a0003c0003t0006g0053 a0003c0003t0006g0193 a0003c0003t0006g0294 |
3 | HG01175.hp1 HG02145.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.454+1542G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46358350 | |||||||
chr2:46358400 | A | G | 8 | a0001c0001t0001g0292 a0002c0002t0001g0152 a0002c0002t0001g0153 others(5): Show |
8 | HG02257.hp1 HG02622.hp1 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.454+1592A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46358400 | |||||||
chr2:46358474 | T | G | 2 | a0003c0004t0008g0222 a0004c0007t0013g0175 |
2 | HG02280.hp2 HG02886.hp1 |
intron_variant | MODIFIER | c.454+1666T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46358474 | |||||||
chr2:46358586 | G | C | 2 | a0001c0001t0001g0106 a0001c0001t0001g0146 |
2 | HG03669.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.454+1778G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46358586 | |||||||
chr2:46358590 | C | G | 3 | a0001c0001t0001g0136 a0003c0003t0006g0045 a0003c0003t0006g0304 |
3 | HG03041.hp1 HG03516.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.454+1782C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46358590 | |||||||
chr2:46358628 | C | T | 7 | a0001c0001t0002g0061 a0001c0001t0002g0116 a0001c0001t0002g0118 others(4): Show |
7 | HG00280.hp2 HG01175.hp2 HG01346.hp2 others(4): Show |
intron_variant | MODIFIER | c.454+1820C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46358628 | |||||||
chr2:46358688 | G | A | 1 | a0001c0001t0001g0213 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.454+1880G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46358688 | |||||||
chr2:46358749 | A | T | 258 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(255): Show |
264 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(261): Show |
intron_variant | MODIFIER | c.455-1889A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46358749 | |||||||
chr2:46358899 | T | G | 1 | a0003c0004t0006g0143 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.455-1739T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46358899 | |||||||
chr2:46358903 | C | T | 3 | a0001c0001t0001g0136 a0003c0003t0006g0045 a0003c0003t0006g0304 |
3 | HG03041.hp1 HG03516.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.455-1735C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46358903 | |||||||
chr2:46358917 | T | C | 6 | a0001c0001t0001g0057 a0001c0001t0001g0178 a0001c0001t0001g0295 others(3): Show |
6 | HG02622.hp2 HG02976.hp1 HG03098.hp2 others(3): Show |
intron_variant | MODIFIER | c.455-1721T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46358917 | |||||||
chr2:46358975 | A | T | 264 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(261): Show |
270 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(267): Show |
intron_variant | MODIFIER | c.455-1663A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46358975 | |||||||
chr2:46358998 | C | T | 1 | a0001c0001t0004g0043 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.455-1640C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46358998 | |||||||
chr2:46359042 | C | T | 15 | a0001c0001t0001g0214 a0001c0001t0001g0274 a0001c0001t0001g0281 others(12): Show |
16 | HG00544.hp2 HG02132.hp1 HG02602.hp1 others(13): Show |
intron_variant | MODIFIER | c.455-1596C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46359042 | |||||||
chr2:46359057 | G | A | 5 | a0001c0001t0001g0054 a0001c0001t0023g0141 a0002c0002t0001g0154 others(2): Show |
5 | HG02717.hp1 HG02965.hp1 HG03486.hp1 others(2): Show |
intron_variant | MODIFIER | c.455-1581G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46359057 | |||||||
chr2:46359120 | G | A | 8 | a0001c0001t0001g0292 a0002c0002t0001g0152 a0002c0002t0001g0153 others(5): Show |
8 | HG02257.hp1 HG02622.hp1 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.455-1518G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46359120 | |||||||
chr2:46359215 | C | T | 3 | a0001c0001t0001g0075 a0001c0001t0010g0144 a0002c0002t0043g0039 |
3 | HG01261.hp1 HG01496.hp2 HG02630.hp2 |
intron_variant | MODIFIER | c.455-1423C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46359215 | |||||||
chr2:46359257 | C | CAAAA | 8 | a0001c0001t0001g0075 a0001c0001t0001g0100 a0001c0001t0001g0147 others(5): Show |
8 | HG01256.hp1 HG01261.hp1 HG01496.hp2 others(5): Show |
intron_variant | MODIFIER | c.455-1360_455-1357d others(6): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | 46359257 | ||||||
chr2:46359257 | C | CAAAAA | 55 | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0057 others(52): Show |
57 | HG00323.hp2 HG00673.hp1 HG00738.hp1 others(54): Show |
intron_variant | MODIFIER | c.455-1361_455-1357d others(7): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | 46359257 | ||||||
chr2:46359257 | C | CAAAAAA | 9 | a0001c0001t0001g0069 a0001c0001t0001g0088 a0001c0001t0001g0115 others(6): Show |
9 | HG00621.hp1 HG01433.hp1 HG01981.hp1 others(6): Show |
intron_variant | MODIFIER | c.455-1362_455-1357d others(8): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | 46359257 | ||||||
chr2:46359257 | C | CAAAAAAA | 5 | a0001c0001t0001g0178 a0001c0001t0003g0288 a0001c0001t0008g0001 others(2): Show |
6 | HG01109.hp1 HG02896.hp1 HG02897.hp1 others(3): Show |
intron_variant | MODIFIER | c.455-1363_455-1357d others(9): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | 46359257 | ||||||
chr2:46359257 | C | CAAAAAAA others(4): Show |
5 | a0001c0001t0001g0125 a0001c0001t0001g0190 a0001c0001t0001g0211 others(2): Show |
5 | HG01952.hp1 HG01993.hp1 NA18985.hp2 others(2): Show |
intron_variant | MODIFIER | c.455-1367_455-1357d others(13): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | 46359257 | ||||||
chr2:46359257 | C | CAAAAAAA others(5): Show |
5 | a0001c0001t0001g0007 a0001c0001t0001g0201 a0001c0001t0001g0240 others(2): Show |
6 | HG00544.hp1 NA18950.hp2 NA18968.hp2 others(3): Show |
intron_variant | MODIFIER | c.455-1368_455-1357d others(14): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | 46359257 | ||||||
chr2:46359257 | C | CAAAAAAA others(6): Show |
4 | a0001c0001t0004g0218 a0001c0001t0037g0184 a0002c0002t0005g0018 others(1): Show |
4 | HG02451.hp2 HG02735.hp2 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.455-1369_455-1357d others(15): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | 46359257 | ||||||
chr2:46359257 | C | CAAAAAAA others(7): Show |
20 | a0001c0001t0001g0078 a0001c0001t0001g0085 a0001c0001t0001g0090 others(17): Show |
20 | HG01071.hp2 HG01081.hp1 HG01346.hp2 others(17): Show |
intron_variant | MODIFIER | c.455-1370_455-1357d others(16): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | 46359257 | ||||||
chr2:46359257 | C | CAAAAAAA others(8): Show |
66 | a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0051 others(63): Show |
67 | HG00099.hp2 HG00280.hp2 HG00639.hp1 others(64): Show |
intron_variant | MODIFIER | c.455-1371_455-1357d others(17): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | 46359257 | ||||||
chr2:46359257 | C | CAAAAAAA others(9): Show |
37 | a0001c0001t0001g0017 a0001c0001t0001g0109 a0001c0001t0001g0145 others(34): Show |
38 | HG00408.hp2 HG00544.hp2 HG00621.hp2 others(35): Show |
intron_variant | MODIFIER | c.455-1372_455-1357d others(18): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | 46359257 | ||||||
chr2:46359257 | C | CAAAAAAA others(10): Show |
17 | a0001c0001t0001g0142 a0001c0001t0001g0164 a0001c0001t0001g0219 others(14): Show |
17 | HG02074.hp1 HG02135.hp1 HG02135.hp2 others(14): Show |
intron_variant | MODIFIER | c.455-1373_455-1357d others(19): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | 46359257 | ||||||
chr2:46359257 | C | CAAAAAAA others(11): Show |
6 | a0001c0001t0001g0249 a0001c0001t0002g0062 a0001c0001t0003g0205 others(3): Show |
6 | HG00140.hp1 HG01496.hp1 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.455-1374_455-1357d others(20): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | 46359257 | ||||||
chr2:46359257 | C | CAAAAAAA others(12): Show |
2 | a0001c0001t0001g0155 a0001c0001t0001g0254 |
2 | HG04115.hp1 NA19087.hp2 |
intron_variant | MODIFIER | c.455-1375_455-1357d others(21): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | 46359257 | ||||||
chr2:46359257 | C | CAAAAAAA others(13): Show |
1 | a0002c0002t0020g0033 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.455-1376_455-1357d others(22): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | 46359257 | ||||||
chr2:46359257 | C | CAAAAAAA others(14): Show |
2 | a0001c0001t0001g0293 a0001c0001t0001g0302 |
2 | HG02970.hp1 NA18943.hp2 |
intron_variant | MODIFIER | c.455-1377_455-1357d others(23): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | 46359257 | ||||||
chr2:46359257 | C | CAAAAAAA others(20): Show |
1 | a0001c0016t0005g0032 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.455-1357_455-1356i others(29): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | 46359257 | ||||||
chr2:46359257 | CAAAAAAA others(4): Show |
C | 1 | a0001c0001t0001g0112 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.455-1367_455-1357d others(13): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | 46359257 | ||||||
chr2:46359388 | C | G | 1 | a0002c0002t0003g0260 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.455-1250C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46359388 | |||||||
chr2:46359459 | C | A | 1 | a0001c0001t0007g0223 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.455-1179C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46359459 | |||||||
chr2:46359496 | T | A | 1 | a0001c0001t0001g0010 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.455-1142T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46359496 | |||||||
chr2:46359545 | A | T | 3 | a0001c0001t0002g0097 a0001c0001t0002g0110 a0001c0001t0002g0256 |
3 | HG01099.hp1 HG01255.hp2 NA20805.hp2 |
intron_variant | MODIFIER | c.455-1093A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46359545 | |||||||
chr2:46359706 | G | A | 1 | a0003c0004t0006g0143 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.455-932G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46359706 | |||||||
chr2:46359776 | C | A | 1 | a0001c0001t0001g0274 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.455-862C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46359776 | |||||||
chr2:46359895 | G | T | 76 | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0057 others(73): Show |
78 | HG00323.hp2 HG00621.hp1 HG00673.hp1 others(75): Show |
intron_variant | MODIFIER | c.455-743G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46359895 | |||||||
chr2:46359958 | T | C | 178 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 others(175): Show |
182 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(179): Show |
intron_variant | MODIFIER | c.455-680T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46359958 | |||||||
chr2:46360124 | G | A | 1 | a0003c0004t0006g0143 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.455-514G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46360124 | |||||||
chr2:46360288 | G | C | 1 | a0007c0008t0042g0025 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.455-350G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46360288 | |||||||
chr2:46360477 | A | T | 1 | a0003c0004t0006g0143 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.455-161A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46360477 | |||||||
chr2:46360509 | G | A | 1 | a0003c0004t0032g0173 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.455-129G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46360509 | |||||||
chr2:46360616 | C | T | 1 | a0001c0001t0001g0004 | 2 | NA18522.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.455-22C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46360616 | |||||||
chr2:46361232 | T | A | 1 | a0001c0001t0001g0201 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.779+142T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46361232 | |||||||
chr2:46361254 | A | G | 1 | a0001c0001t0002g0094 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.779+164A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46361254 | |||||||
chr2:46361283 | C | G | 1 | a0001c0001t0002g0116 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.779+193C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46361283 | |||||||
chr2:46361337 | C | A | 1 | a0002c0002t0001g0154 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.779+247C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46361337 | |||||||
chr2:46361344 | T | C | 3 | a0001c0001t0001g0075 a0001c0001t0010g0144 a0002c0002t0043g0039 |
3 | HG01261.hp1 HG01496.hp2 HG02630.hp2 |
intron_variant | MODIFIER | c.779+254T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46361344 | |||||||
chr2:46361349 | G | T | 60 | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0057 others(57): Show |
62 | HG00323.hp2 HG00621.hp1 HG00673.hp1 others(59): Show |
intron_variant | MODIFIER | c.779+259G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46361349 | |||||||
chr2:46361363 | C | A | 1 | a0001c0001t0001g0200 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.779+273C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46361363 | |||||||
chr2:46361439 | C | A | 1 | a0002c0002t0001g0154 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.779+349C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46361439 | |||||||
chr2:46361535 | T | C | 2 | a0001c0001t0001g0077 a0001c0001t0001g0078 |
2 | HG01928.hp2 HG01993.hp2 |
intron_variant | MODIFIER | c.779+445T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46361535 | |||||||
chr2:46361597 | T | C | 1 | a0003c0004t0006g0143 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.779+507T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46361597 | |||||||
chr2:46361675 | T | C | 5 | a0001c0001t0001g0054 a0001c0001t0004g0052 a0001c0001t0023g0141 others(2): Show |
5 | HG02717.hp1 HG02965.hp1 HG03486.hp1 others(2): Show |
intron_variant | MODIFIER | c.779+585T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46361675 | |||||||
chr2:46361812 | T | G | 4 | a0001c0001t0001g0054 a0001c0001t0004g0052 a0001c0001t0023g0141 others(1): Show |
4 | HG02717.hp1 HG02965.hp1 NA20129.hp1 others(1): Show |
intron_variant | MODIFIER | c.779+722T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46361812 | |||||||
chr2:46361893 | C | T | 13 | a0001c0001t0001g0075 a0001c0001t0001g0292 a0001c0001t0010g0144 others(10): Show |
13 | HG01261.hp1 HG01496.hp2 HG01884.hp2 others(10): Show |
intron_variant | MODIFIER | c.779+803C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46361893 | |||||||
chr2:46361903 | T | C | 3 | a0001c0001t0001g0136 a0003c0003t0006g0045 a0003c0003t0006g0304 |
3 | HG03041.hp1 HG03516.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.779+813T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46361903 | |||||||
chr2:46361965 | G | A | 1 | a0001c0001t0001g0206 | 1 | NA18999.hp2 | intron_variant | MODIFIER | c.779+875G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46361965 | |||||||
chr2:46361968 | C | T | 1 | a0001c0001t0004g0012 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.779+878C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46361968 | |||||||
chr2:46361987 | A | G | 1 | a0001c0001t0003g0215 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.779+897A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46361987 | |||||||
chr2:46362040 | A | G | 177 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 others(174): Show |
181 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(178): Show |
intron_variant | MODIFIER | c.779+950A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46362040 | |||||||
chr2:46362047 | C | T | 8 | a0001c0001t0001g0292 a0002c0002t0001g0152 a0002c0002t0001g0153 others(5): Show |
8 | HG02257.hp1 HG02622.hp1 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.779+957C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46362047 | |||||||
chr2:46362072 | C | T | 68 | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0054 others(65): Show |
70 | HG00323.hp2 HG00621.hp1 HG00673.hp1 others(67): Show |
intron_variant | MODIFIER | c.779+982C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46362072 | |||||||
chr2:46362156 | A | G | 171 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 others(168): Show |
174 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(171): Show |
intron_variant | MODIFIER | c.779+1066A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46362156 | |||||||
chr2:46362184 | C | A | 13 | a0001c0001t0001g0075 a0001c0001t0001g0292 a0001c0001t0010g0144 others(10): Show |
13 | HG01261.hp1 HG01496.hp2 HG01884.hp2 others(10): Show |
intron_variant | MODIFIER | c.779+1094C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46362184 | |||||||
chr2:46362348 | C | G | 46 | a0001c0001t0001g0005 a0001c0001t0001g0077 a0001c0001t0001g0078 others(43): Show |
47 | HG00140.hp1 HG00280.hp2 HG00639.hp1 others(44): Show |
intron_variant | MODIFIER | c.779+1258C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46362348 | |||||||
chr2:46362624 | C | T | 3 | a0001c0016t0005g0032 a0002c0002t0020g0020 a0002c0002t0020g0033 |
3 | HG02451.hp1 HG03516.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.779+1534C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46362624 | |||||||
chr2:46362867 | A | T | 3 | a0001c0001t0001g0136 a0003c0003t0006g0045 a0003c0003t0006g0304 |
3 | HG03041.hp1 HG03516.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.779+1777A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46362867 | |||||||
chr2:46362951 | TTAGTGGT others(17): Show |
T | 7 | a0001c0001t0001g0075 a0001c0001t0007g0223 a0001c0001t0010g0144 others(4): Show |
7 | HG01255.hp1 HG01261.hp1 HG01496.hp2 others(4): Show |
intron_variant | MODIFIER | c.779+1887_779+1910d others(26): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | 46362951 | ||||||
chr2:46362953 | A | AGTG | 3 | a0003c0003t0006g0053 a0003c0003t0006g0193 a0003c0003t0006g0294 |
3 | HG01175.hp1 HG02145.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.779+1884_779+1886d others(5): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | 46362953 | ||||||
chr2:46362953 | AGTGGTGG others(20): Show |
A | 2 | a0002c0002t0019g0019 a0002c0002t0019g0029 |
2 | HG03139.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.779+1887_779+1913d others(29): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | 46362953 | ||||||
chr2:46362953 | AGTGGTGG others(23): Show |
A | 1 | a0001c0001t0001g0293 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.779+1887_779+1916d others(32): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | 46362953 | ||||||
chr2:46362953 | AGTGGTGG others(26): Show |
A | 1 | a0002c0002t0014g0046 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.779+1887_779+1919d others(35): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | 46362953 | ||||||
chr2:46362953 | AGTGGTGG others(29): Show |
A | 2 | a0001c0001t0001g0068 a0001c0001t0001g0069 |
2 | HG02735.hp1 HG03688.hp2 |
intron_variant | MODIFIER | c.779+1887_779+1922d others(38): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | 46362953 | ||||||
chr2:46362956 | GGTGGTGG others(14): Show |
G | 8 | a0001c0001t0001g0054 a0001c0001t0001g0269 a0001c0001t0004g0052 others(5): Show |
8 | HG01109.hp1 HG02717.hp1 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.779+1887_779+1907d others(23): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | 46362956 | ||||||
chr2:46362959 | GGTGGTGG others(11): Show |
G | 3 | a0001c0001t0008g0001 a0001c0001t0008g0048 a0007c0008t0042g0025 |
4 | HG02896.hp1 HG02897.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.779+1887_779+1904d others(20): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | 46362959 | ||||||
chr2:46362962 | GGTGGTGG others(8): Show |
G | 1 | a0001c0001t0001g0254 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.779+1887_779+1901d others(17): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | 46362962 | ||||||
chr2:46362965 | GGTGGTGG others(5): Show |
G | 15 | a0001c0001t0001g0134 a0001c0001t0001g0162 a0001c0001t0001g0163 others(12): Show |
15 | HG00099.hp2 HG00280.hp2 HG01175.hp2 others(12): Show |
intron_variant | MODIFIER | c.779+1887_779+1898d others(14): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | 46362965 | ||||||
chr2:46362968 | G | A | 1 | a0001c0001t0001g0105 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.779+1878G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46362968 | |||||||
chr2:46362968 | GGTGGTGG others(2): Show |
G | 88 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0085 others(85): Show |
90 | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(87): Show |
intron_variant | MODIFIER | c.779+1887_779+1895d others(11): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | 46362968 | ||||||
chr2:46362971 | GGTGGTA | G | 46 | a0001c0001t0001g0017 a0001c0001t0001g0077 a0001c0001t0001g0078 others(43): Show |
46 | HG00099.hp1 HG00621.hp2 HG00642.hp2 others(43): Show |
intron_variant | MODIFIER | c.779+1887_779+1892d others(8): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | 46362971 | ||||||
chr2:46362974 | GGTA | G | 7 | a0001c0001t0001g0010 a0001c0001t0001g0214 a0001c0001t0001g0263 others(4): Show |
7 | HG00544.hp2 HG01884.hp1 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.779+1887_779+1889d others(5): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | 46362974 | ||||||
chr2:46362977 | A | AGTG | 31 | a0001c0001t0001g0002 a0001c0001t0001g0063 a0001c0001t0001g0064 others(28): Show |
33 | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(30): Show |
intron_variant | MODIFIER | c.779+1927_779+1929d others(5): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | 46362977 | ||||||
chr2:46362977 | A | AGTGGTGG others(53): Show |
1 | a0001c0001t0001g0113 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.779+1929_779+1930i others(62): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | 46362977 | ||||||
chr2:46362977 | A | AGTGGTGG others(53): Show |
1 | a0001c0001t0001g0114 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.779+1929_779+1930i others(62): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | 46362977 | ||||||
chr2:46362977 | A | G | 14 | a0001c0001t0001g0051 a0001c0001t0001g0142 a0001c0001t0001g0274 others(11): Show |
15 | HG01255.hp1 HG02602.hp1 HG02683.hp2 others(12): Show |
intron_variant | MODIFIER | c.779+1887A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46362977 | |||||||
chr2:46362977 | AGTGGTGG others(2): Show |
A | 55 | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0080 others(52): Show |
56 | HG00323.hp2 HG00621.hp1 HG00673.hp1 others(53): Show |
intron_variant | MODIFIER | c.779+1921_779+1929d others(11): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | 46362977 | ||||||
chr2:46362980 | G | GGTGGTGG others(23): Show |
1 | a0003c0003t0009g0317 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.779+1919_779+1920i others(32): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | 46362980 | ||||||
chr2:46362986 | G | A | 5 | a0001c0001t0028g0271 a0002c0014t0005g0026 a0003c0003t0006g0050 others(2): Show |
5 | HG01891.hp2 HG02559.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.779+1896G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46362986 | |||||||
chr2:46363011 | G | A | 7 | a0001c0001t0001g0125 a0001c0001t0001g0136 a0001c0001t0001g0316 others(4): Show |
7 | HG01993.hp1 HG02683.hp2 NA18952.hp2 others(4): Show |
intron_variant | MODIFIER | c.779+1921G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46363011 | |||||||
chr2:46363014 | G | A | 210 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(207): Show |
214 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(211): Show |
intron_variant | MODIFIER | c.779+1924G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46363014 | |||||||
chr2:46363017 | G | A | 213 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(210): Show |
217 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(214): Show |
intron_variant | MODIFIER | c.779+1927G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46363017 | |||||||
chr2:46363017 | G | GTGATGA | 14 | a0001c0001t0001g0057 a0001c0001t0001g0087 a0001c0001t0001g0088 others(11): Show |
15 | HG02056.hp2 HG02622.hp2 HG02976.hp1 others(12): Show |
intron_variant | MODIFIER | c.779+1931_779+1932i others(8): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | 46363017 | ||||||
chr2:46363017 | G | GTGGTGGT others(8): Show |
1 | a0001c0001t0036g0186 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.779+1929_779+1930i others(17): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | 46363017 | ||||||
chr2:46363017 | G | GTGGTGGT others(17): Show |
1 | a0003c0004t0021g0139 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.779+1929_779+1930i others(26): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | 46363017 | ||||||
chr2:46363150 | C | T | 4 | a0001c0001t0001g0293 a0001c0001t0008g0001 a0001c0001t0008g0048 others(1): Show |
5 | HG01109.hp1 HG02896.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.779+2060C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46363150 | |||||||
chr2:46363195 | C | G | 244 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(241): Show |
250 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(247): Show |
intron_variant | MODIFIER | c.779+2105C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46363195 | |||||||
chr2:46363245 | G | C | 163 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 others(160): Show |
166 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(163): Show |
intron_variant | MODIFIER | c.779+2155G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46363245 | |||||||
chr2:46363317 | A | G | 259 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(256): Show |
265 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(262): Show |
intron_variant | MODIFIER | c.779+2227A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46363317 | |||||||
chr2:46363586 | A | G | 60 | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0057 others(57): Show |
62 | HG00323.hp2 HG00621.hp1 HG00673.hp1 others(59): Show |
intron_variant | MODIFIER | c.779+2496A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46363586 | |||||||
chr2:46363652 | T | C | 61 | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0057 others(58): Show |
63 | HG00323.hp2 HG00621.hp1 HG00673.hp1 others(60): Show |
intron_variant | MODIFIER | c.779+2562T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46363652 | |||||||
chr2:46363685 | A | G | 16 | a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0151 others(13): Show |
16 | HG00621.hp1 HG00673.hp1 HG02056.hp1 others(13): Show |
intron_variant | MODIFIER | c.779+2595A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46363685 | |||||||
chr2:46363721 | A | G | 6 | a0001c0001t0001g0150 a0001c0001t0001g0161 a0001c0001t0001g0164 others(3): Show |
6 | HG00408.hp2 HG02074.hp1 HG02135.hp1 others(3): Show |
intron_variant | MODIFIER | c.779+2631A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46363721 | |||||||
chr2:46363755 | T | A | 2 | a0003c0004t0009g0022 a0003c0004t0009g0024 |
2 | HG01081.hp2 HG02109.hp2 |
intron_variant | MODIFIER | c.779+2665T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46363755 | |||||||
chr2:46363755 | T | G | 1 | a0001c0001t0001g0276 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.779+2665T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46363755 | |||||||
chr2:46363855 | G | A | 1 | a0002c0002t0001g0182 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.779+2765G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46363855 | |||||||
chr2:46364305 | G | A | 6 | a0002c0002t0001g0055 a0002c0002t0001g0154 a0002c0002t0001g0182 others(3): Show |
6 | HG02055.hp2 HG02257.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.779+3215G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46364305 | |||||||
chr2:46364359 | T | C | 12 | a0001c0001t0004g0052 a0001c0001t0028g0271 a0002c0014t0005g0026 others(9): Show |
12 | HG01109.hp1 HG01175.hp1 HG01891.hp2 others(9): Show |
intron_variant | MODIFIER | c.779+3269T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46364359 | |||||||
chr2:46364381 | A | C | 1 | a0001c0001t0001g0017 | 1 | NA18953.hp2 | intron_variant | MODIFIER | c.779+3291A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46364381 | |||||||
chr2:46364423 | C | T | 6 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0102 others(3): Show |
6 | HG00639.hp1 HG00642.hp2 HG00738.hp2 others(3): Show |
intron_variant | MODIFIER | c.779+3333C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46364423 | |||||||
chr2:46364625 | A | T | 3 | a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0003g0288 |
3 | HG02056.hp2 NA18960.hp2 NA19010.hp2 |
intron_variant | MODIFIER | c.779+3535A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46364625 | |||||||
chr2:46364661 | C | T | 1 | a0001c0001t0001g0112 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.779+3571C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46364661 | |||||||
chr2:46364718 | G | T | 3 | a0002c0002t0001g0055 a0002c0002t0001g0182 a0002c0002t0005g0014 |
3 | HG02055.hp2 HG06807.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.779+3628G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46364718 | |||||||
chr2:46364787 | A | G | 2 | a0002c0014t0005g0026 a0003c0004t0009g0037 |
2 | HG02976.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.779+3697A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46364787 | |||||||
chr2:46364867 | T | C | 182 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 others(179): Show |
186 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(183): Show |
intron_variant | MODIFIER | c.779+3777T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46364867 | |||||||
chr2:46365039 | G | C | 1 | a0001c0001t0001g0004 | 2 | NA18522.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.779+3949G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46365039 | |||||||
chr2:46365152 | C | T | 8 | a0001c0001t0001g0054 a0001c0001t0001g0136 a0001c0001t0023g0141 others(5): Show |
8 | HG01884.hp2 HG02717.hp1 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.779+4062C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46365152 | |||||||
chr2:46365385 | G | T | 263 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(260): Show |
269 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(266): Show |
intron_variant | MODIFIER | c.779+4295G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46365385 | |||||||
chr2:46365408 | G | A | 4 | a0001c0001t0001g0054 a0001c0001t0023g0141 a0002c0002t0005g0018 others(1): Show |
4 | HG02717.hp1 HG02965.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.779+4318G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46365408 | |||||||
chr2:46365433 | T | C | 1 | a0001c0001t0001g0263 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.779+4343T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46365433 | |||||||
chr2:46365458 | A | G | 16 | a0001c0001t0001g0054 a0001c0001t0001g0075 a0001c0001t0001g0293 others(13): Show |
17 | HG01261.hp1 HG01496.hp2 HG02055.hp2 others(14): Show |
intron_variant | MODIFIER | c.779+4368A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46365458 | |||||||
chr2:46365627 | T | C | 11 | a0001c0001t0004g0052 a0001c0001t0028g0271 a0003c0003t0006g0050 others(8): Show |
11 | HG01109.hp1 HG01175.hp1 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.780-4200T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46365627 | |||||||
chr2:46365668 | C | T | 15 | a0001c0001t0001g0075 a0001c0001t0001g0292 a0001c0001t0001g0293 others(12): Show |
16 | HG01261.hp1 HG01496.hp2 HG02257.hp1 others(13): Show |
intron_variant | MODIFIER | c.780-4159C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46365668 | |||||||
chr2:46365705 | G | A | 4 | a0001c0001t0001g0054 a0001c0001t0023g0141 a0002c0002t0005g0018 others(1): Show |
4 | HG02717.hp1 HG02965.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.780-4122G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46365705 | |||||||
chr2:46365717 | C | T | 6 | a0002c0002t0001g0055 a0002c0002t0001g0154 a0002c0002t0001g0182 others(3): Show |
6 | HG02055.hp2 HG02257.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.780-4110C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46365717 | |||||||
chr2:46365900 | G | T | 4 | a0001c0001t0001g0136 a0003c0003t0006g0045 a0003c0003t0006g0304 others(1): Show |
4 | HG01884.hp2 HG03041.hp1 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.780-3927G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46365900 | |||||||
chr2:46365985 | G | A | 1 | a0001c0001t0030g0059 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.780-3842G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46365985 | |||||||
chr2:46366046 | G | C | 4 | a0001c0001t0001g0136 a0003c0003t0006g0045 a0003c0003t0006g0304 others(1): Show |
4 | HG01884.hp2 HG03041.hp1 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.780-3781G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46366046 | |||||||
chr2:46366097 | G | A | 4 | a0001c0001t0001g0136 a0003c0003t0006g0045 a0003c0003t0006g0304 others(1): Show |
4 | HG01884.hp2 HG03041.hp1 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.780-3730G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46366097 | |||||||
chr2:46366145 | G | A | 2 | a0002c0002t0019g0019 a0002c0002t0019g0029 |
2 | HG03139.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.780-3682G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46366145 | |||||||
chr2:46366152 | C | T | 1 | a0003c0004t0006g0143 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.780-3675C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46366152 | |||||||
chr2:46366160 | T | C | 237 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 others(234): Show |
242 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(239): Show |
intron_variant | MODIFIER | c.780-3667T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46366160 | |||||||
chr2:46366220 | G | A | 4 | a0001c0001t0001g0136 a0003c0003t0006g0045 a0003c0003t0006g0304 others(1): Show |
4 | HG01884.hp2 HG03041.hp1 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.780-3607G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46366220 | |||||||
chr2:46366240 | G | C | 1 | a0002c0002t0001g0182 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.780-3587G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46366240 | |||||||
chr2:46366311 | TTGAGAGT others(7): Show |
T | 3 | a0001c0001t0001g0054 a0001c0001t0023g0141 a0002c0002t0005g0018 |
3 | HG02717.hp1 HG02965.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.780-3515_780-3502d others(16): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46366311 | |||||||
chr2:46366327 | A | G | 1 | a0001c0001t0001g0213 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.780-3500A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46366327 | |||||||
chr2:46366360 | C | G | 1 | a0001c0001t0005g0031 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.780-3467C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46366360 | |||||||
chr2:46366397 | G | A | 43 | a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0088 others(40): Show |
44 | HG01109.hp1 HG01168.hp2 HG01175.hp1 others(41): Show |
intron_variant | MODIFIER | c.780-3430G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46366397 | |||||||
chr2:46366518 | TCA | T | 3 | a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0018g0185 |
3 | HG01257.hp2 HG01258.hp1 HG02132.hp2 |
intron_variant | MODIFIER | c.780-3307_780-3306d others(4): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | 46366518 | ||||||
chr2:46366592 | G | A | 2 | a0001c0001t0002g0118 a0001c0001t0002g0128 |
2 | HG01346.hp2 HG01516.hp1 |
intron_variant | MODIFIER | c.780-3235G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46366592 | |||||||
chr2:46366652 | G | T | 3 | a0001c0001t0001g0075 a0001c0001t0010g0144 a0002c0002t0043g0039 |
3 | HG01261.hp1 HG01496.hp2 HG02630.hp2 |
intron_variant | MODIFIER | c.780-3175G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46366652 | |||||||
chr2:46366908 | G | A | 1 | a0001c0001t0034g0290 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.780-2919G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46366908 | |||||||
chr2:46366942 | T | A | 1 | a0001c0001t0001g0123 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.780-2885T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46366942 | |||||||
chr2:46367012 | G | C | 7 | a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0179 others(4): Show |
7 | HG02257.hp1 HG02622.hp1 HG02630.hp1 others(4): Show |
intron_variant | MODIFIER | c.780-2815G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46367012 | |||||||
chr2:46367132 | T | C | 1 | a0001c0001t0005g0031 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.780-2695T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46367132 | |||||||
chr2:46367163 | C | T | 1 | a0001c0001t0001g0100 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.780-2664C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46367163 | |||||||
chr2:46367320 | G | A | 1 | a0001c0001t0001g0278 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.780-2507G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46367320 | |||||||
chr2:46367409 | G | C | 13 | a0002c0002t0001g0055 a0002c0002t0001g0152 a0002c0002t0001g0153 others(10): Show |
13 | HG02055.hp2 HG02257.hp1 HG02257.hp2 others(10): Show |
intron_variant | MODIFIER | c.780-2418G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46367409 | |||||||
chr2:46367461 | G | C | 10 | a0002c0002t0001g0117 a0002c0002t0001g0126 a0002c0002t0001g0169 others(7): Show |
10 | HG00408.hp1 HG02071.hp2 NA18964.hp2 others(7): Show |
intron_variant | MODIFIER | c.780-2366G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46367461 | |||||||
chr2:46367480 | A | G | 6 | a0002c0002t0001g0055 a0002c0002t0001g0154 a0002c0002t0001g0182 others(3): Show |
6 | HG02055.hp2 HG02257.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.780-2347A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46367480 | |||||||
chr2:46367483 | G | A | 1 | a0002c0002t0001g0060 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.780-2344G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46367483 | |||||||
chr2:46367523 | T | G | 1 | a0001c0001t0002g0062 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.780-2304T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46367523 | |||||||
chr2:46367531 | C | G | 1 | a0002c0014t0005g0026 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.780-2296C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46367531 | |||||||
chr2:46367538 | C | G | 1 | a0002c0002t0043g0039 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.780-2289C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46367538 | |||||||
chr2:46367600 | A | G | 1 | a0002c0002t0043g0039 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.780-2227A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46367600 | |||||||
chr2:46367641 | G | A | 1 | a0001c0001t0001g0171 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.780-2186G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46367641 | |||||||
chr2:46367897 | G | C | 2 | a0002c0002t0019g0019 a0002c0002t0019g0029 |
2 | HG03139.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.780-1930G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46367897 | |||||||
chr2:46368049 | A | C | 4 | a0001c0001t0001g0054 a0001c0001t0023g0141 a0002c0002t0005g0018 others(1): Show |
4 | HG02717.hp1 HG02965.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.780-1778A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46368049 | |||||||
chr2:46368117 | G | A | 22 | a0001c0001t0001g0214 a0001c0001t0001g0316 a0002c0002t0001g0006 others(19): Show |
23 | HG00408.hp1 HG00544.hp2 HG02071.hp2 others(20): Show |
intron_variant | MODIFIER | c.780-1710G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46368117 | |||||||
chr2:46368224 | G | A | 23 | a0001c0001t0001g0005 a0001c0001t0001g0090 a0001c0001t0001g0109 others(20): Show |
24 | HG00140.hp1 HG00639.hp1 HG00639.hp2 others(21): Show |
intron_variant | MODIFIER | c.780-1603G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46368224 | |||||||
chr2:46368351 | A | G | 257 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0010 others(254): Show |
262 | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(259): Show |
intron_variant | MODIFIER | c.780-1476A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46368351 | |||||||
chr2:46368667 | C | T | 12 | a0002c0002t0001g0055 a0002c0002t0001g0154 a0002c0002t0001g0182 others(9): Show |
12 | HG01109.hp1 HG01175.hp1 HG01891.hp2 others(9): Show |
intron_variant | MODIFIER | c.780-1160C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46368667 | |||||||
chr2:46368679 | C | T | 6 | a0002c0002t0001g0055 a0002c0002t0001g0154 a0002c0002t0001g0182 others(3): Show |
6 | HG02055.hp2 HG02257.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.780-1148C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46368679 | |||||||
chr2:46368832 | T | C | 1 | a0002c0015t0031g0194 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.780-995T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46368832 | |||||||
chr2:46369269 | T | G | 1 | a0001c0001t0001g0081 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.780-558T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46369269 | |||||||
chr2:46369294 | G | A | 202 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 others(199): Show |
204 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(201): Show |
intron_variant | MODIFIER | c.780-533G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46369294 | |||||||
chr2:46369347 | A | C | 14 | a0002c0002t0014g0046 a0002c0002t0014g0047 a0003c0003t0006g0050 others(11): Show |
14 | HG01109.hp1 HG01175.hp1 HG01891.hp2 others(11): Show |
intron_variant | MODIFIER | c.780-480A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46369347 | |||||||
chr2:46369365 | C | T | 1 | a0001c0016t0005g0032 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.780-462C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46369365 | |||||||
chr2:46369724 | C | T | 1 | a0001c0001t0001g0278 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.780-103C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46369724 | |||||||
chr2:46369752 | G | T | 1 | a0007c0008t0042g0025 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.780-75G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46369752 | |||||||
chr2:46369812 | T | A | 37 | a0001c0001t0001g0054 a0001c0001t0001g0293 a0001c0001t0001g0316 others(34): Show |
39 | HG00408.hp1 HG01081.hp2 HG01109.hp2 others(36): Show |
intron_variant | MODIFIER | c.780-15T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46369812 | |||||||
chr2:46369945 | G | A | 1 | a0001c0001t0005g0187 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.886+12G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46369945 | |||||||
chr2:46370157 | T | C | 293 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(290): Show |
302 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(299): Show |
intron_variant | MODIFIER | c.886+224T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46370157 | |||||||
chr2:46370350 | G | A | 1 | a0001c0005t0001g0073 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.886+417G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46370350 | |||||||
chr2:46370433 | A | T | 3 | a0002c0002t0001g0154 a0002c0002t0004g0042 a0003c0003t0009g0317 |
3 | HG02257.hp2 HG02451.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.886+500A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46370433 | |||||||
chr2:46370442 | C | T | 177 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 others(174): Show |
179 | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(176): Show |
intron_variant | MODIFIER | c.886+509C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46370442 | |||||||
chr2:46370460 | T | C | 8 | a0001c0001t0001g0075 a0001c0001t0001g0136 a0002c0002t0001g0055 others(5): Show |
8 | HG01261.hp1 HG02055.hp2 HG02257.hp2 others(5): Show |
intron_variant | MODIFIER | c.886+527T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46370460 | |||||||
chr2:46370617 | A | C | 2 | a0001c0005t0001g0073 a0001c0005t0018g0183 |
2 | HG00099.hp2 HG01358.hp2 |
intron_variant | MODIFIER | c.886+684A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46370617 | |||||||
chr2:46370688 | A | G | 89 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(86): Show |
96 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(93): Show |
intron_variant | MODIFIER | c.886+755A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46370688 | |||||||
chr2:46370693 | G | A | 6 | a0001c0001t0001g0293 a0001c0001t0008g0001 a0001c0001t0008g0048 others(3): Show |
7 | HG01109.hp2 HG02896.hp1 HG02897.hp1 others(4): Show |
intron_variant | MODIFIER | c.886+760G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46370693 | |||||||
chr2:46370731 | T | C | 66 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(63): Show |
71 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(68): Show |
intron_variant | MODIFIER | c.886+798T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46370731 | |||||||
chr2:46370839 | G | A | 1 | a0001c0001t0002g0094 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.886+906G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46370839 | |||||||
chr2:46371094 | G | A | 63 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(60): Show |
68 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(65): Show |
intron_variant | MODIFIER | c.886+1161G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46371094 | |||||||
chr2:46371151 | G | T | 1 | a0001c0001t0001g0210 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.886+1218G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46371151 | |||||||
chr2:46371164 | C | T | 2 | a0001c0001t0002g0009 a0001c0001t0002g0272 |
3 | NA19065.hp2 NA19076.hp1 NA19091.hp1 |
intron_variant | MODIFIER | c.886+1231C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46371164 | |||||||
chr2:46371261 | G | A | 1 | a0001c0001t0001g0211 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.886+1328G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46371261 | |||||||
chr2:46371383 | A | C | 2 | a0001c0001t0012g0096 a0001c0001t0012g0111 |
2 | HG01081.hp1 HG01106.hp2 |
intron_variant | MODIFIER | c.886+1450A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46371383 | |||||||
chr2:46371429 | A | G | 85 | a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0051 others(82): Show |
86 | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(83): Show |
intron_variant | MODIFIER | c.886+1496A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46371429 | |||||||
chr2:46371444 | C | T | 1 | a0001c0001t0001g0075 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.886+1511C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46371444 | |||||||
chr2:46371574 | T | G | 3 | a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0005g0038 |
3 | HG02572.hp1 HG02896.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.886+1641T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46371574 | |||||||
chr2:46371624 | G | C | 1 | a0003c0003t0033g0188 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.886+1691G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46371624 | |||||||
chr2:46371706 | A | G | 1 | a0001c0001t0005g0038 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.886+1773A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46371706 | |||||||
chr2:46371794 | A | T | 7 | a0001c0001t0001g0293 a0001c0001t0008g0001 a0001c0001t0008g0048 others(4): Show |
8 | HG01109.hp2 HG02451.hp2 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.886+1861A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46371794 | |||||||
chr2:46371891 | A | G | 126 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(123): Show |
133 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(130): Show |
intron_variant | MODIFIER | c.886+1958A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46371891 | |||||||
chr2:46371933 | C | G | 3 | a0001c0001t0001g0136 a0002c0002t0019g0019 a0002c0002t0019g0029 |
3 | HG03139.hp2 HG06807.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.886+2000C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46371933 | |||||||
chr2:46371977 | G | A | 1 | a0001c0001t0002g0116 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.886+2044G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46371977 | |||||||
chr2:46372091 | G | A | 2 | a0004c0007t0013g0058 a0004c0007t0013g0175 |
2 | HG02886.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.886+2158G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46372091 | |||||||
chr2:46372135 | A | T | 73 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(70): Show |
78 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(75): Show |
intron_variant | MODIFIER | c.886+2202A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46372135 | |||||||
chr2:46372194 | A | T | 1 | a0001c0001t0001g0267 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.886+2261A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46372194 | |||||||
chr2:46372234 | C | A | 63 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(60): Show |
68 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(65): Show |
intron_variant | MODIFIER | c.886+2301C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46372234 | |||||||
chr2:46372282 | A | G | 1 | a0001c0001t0030g0059 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.886+2349A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46372282 | |||||||
chr2:46372492 | A | C | 2 | a0003c0003t0006g0053 a0003c0003t0006g0193 |
2 | HG01175.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.886+2559A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46372492 | |||||||
chr2:46372615 | G | A | 1 | a0003c0003t0009g0317 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.886+2682G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46372615 | |||||||
chr2:46372779 | T | A | 19 | a0002c0002t0014g0046 a0002c0002t0014g0047 a0003c0003t0006g0045 others(16): Show |
19 | HG01081.hp2 HG01109.hp1 HG01175.hp1 others(16): Show |
intron_variant | MODIFIER | c.886+2846T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46372779 | |||||||
chr2:46372891 | A | G | 5 | a0002c0002t0001g0055 a0002c0002t0001g0182 a0002c0002t0005g0014 others(2): Show |
5 | HG02055.hp2 HG02630.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.887-2799A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46372891 | |||||||
chr2:46373037 | T | C | 1 | a0001c0001t0007g0223 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.887-2653T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46373037 | |||||||
chr2:46373071 | C | T | 1 | a0001c0001t0001g0136 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.887-2619C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46373071 | |||||||
chr2:46373085 | A | G | 22 | a0001c0001t0008g0001 a0001c0001t0008g0048 a0001c0001t0008g0235 others(19): Show |
23 | HG01081.hp2 HG01109.hp1 HG01109.hp2 others(20): Show |
intron_variant | MODIFIER | c.887-2605A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46373085 | |||||||
chr2:46373087 | T | G | 36 | a0001c0001t0001g0075 a0001c0001t0001g0293 a0001c0001t0007g0223 others(33): Show |
37 | HG00099.hp2 HG01081.hp2 HG01109.hp1 others(34): Show |
intron_variant | MODIFIER | c.887-2603T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46373087 | |||||||
chr2:46373184 | A | G | 24 | a0001c0001t0001g0075 a0002c0002t0001g0055 a0002c0002t0001g0182 others(21): Show |
24 | HG01081.hp2 HG01109.hp1 HG01175.hp1 others(21): Show |
intron_variant | MODIFIER | c.887-2506A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46373184 | |||||||
chr2:46373520 | A | G | 6 | a0001c0001t0001g0007 a0001c0001t0001g0201 a0001c0001t0001g0206 others(3): Show |
7 | NA18950.hp2 NA18968.hp2 NA18984.hp2 others(4): Show |
intron_variant | MODIFIER | c.887-2170A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46373520 | |||||||
chr2:46373522 | A | C | 10 | a0001c0001t0001g0293 a0001c0001t0007g0223 a0001c0001t0008g0001 others(7): Show |
11 | HG01109.hp2 HG01255.hp1 HG02257.hp2 others(8): Show |
intron_variant | MODIFIER | c.887-2168A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46373522 | |||||||
chr2:46373678 | G | A | 1 | a0001c0001t0001g0075 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.887-2012G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46373678 | |||||||
chr2:46373755 | T | C | 62 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(59): Show |
67 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(64): Show |
intron_variant | MODIFIER | c.887-1935T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46373755 | |||||||
chr2:46373831 | A | C | 1 | a0001c0001t0001g0075 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.887-1859A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46373831 | |||||||
chr2:46373973 | G | A | 63 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(60): Show |
68 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(65): Show |
intron_variant | MODIFIER | c.887-1717G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46373973 | |||||||
chr2:46374032 | C | T | 8 | a0001c0001t0001g0075 a0001c0001t0028g0271 a0002c0002t0001g0055 others(5): Show |
8 | HG01261.hp1 HG02055.hp2 HG02630.hp2 others(5): Show |
intron_variant | MODIFIER | c.887-1658C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46374032 | |||||||
chr2:46374275 | T | G | 59 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(56): Show |
64 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(61): Show |
intron_variant | MODIFIER | c.887-1415T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46374275 | |||||||
chr2:46374357 | C | T | 59 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(56): Show |
64 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(61): Show |
intron_variant | MODIFIER | c.887-1333C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46374357 | |||||||
chr2:46374359 | A | G | 9 | a0001c0001t0001g0293 a0001c0001t0008g0001 a0001c0001t0008g0048 others(6): Show |
10 | HG01109.hp2 HG02055.hp2 HG02896.hp1 others(7): Show |
intron_variant | MODIFIER | c.887-1331A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46374359 | |||||||
chr2:46374372 | G | A | 2 | a0001c0005t0001g0073 a0001c0005t0018g0183 |
2 | HG00099.hp2 HG01358.hp2 |
intron_variant | MODIFIER | c.887-1318G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46374372 | |||||||
chr2:46374374 | A | G | 1 | a0002c0014t0005g0026 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.887-1316A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46374374 | |||||||
chr2:46374416 | T | G | 1 | a0001c0001t0001g0075 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.887-1274T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46374416 | |||||||
chr2:46374528 | C | T | 2 | a0001c0001t0001g0075 a0007c0008t0042g0025 |
2 | HG01261.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.887-1162C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46374528 | |||||||
chr2:46374540 | T | C | 2 | a0001c0001t0003g0215 a0001c0001t0003g0299 |
2 | HG02071.hp1 NA19075.hp2 |
intron_variant | MODIFIER | c.887-1150T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46374540 | |||||||
chr2:46374716 | C | A | 8 | a0001c0001t0001g0151 a0001c0001t0001g0261 a0001c0001t0001g0269 others(5): Show |
8 | HG03831.hp2 HG03942.hp2 HG04199.hp2 others(5): Show |
intron_variant | MODIFIER | c.887-974C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46374716 | |||||||
chr2:46374728 | A | G | 15 | a0001c0001t0001g0057 a0001c0001t0001g0088 a0001c0001t0001g0122 others(12): Show |
16 | HG00099.hp2 HG01168.hp2 HG01358.hp2 others(13): Show |
intron_variant | MODIFIER | c.887-962A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46374728 | |||||||
chr2:46374740 | A | G | 10 | a0001c0001t0001g0293 a0001c0001t0007g0223 a0001c0001t0008g0001 others(7): Show |
11 | HG01109.hp2 HG01255.hp1 HG02055.hp2 others(8): Show |
intron_variant | MODIFIER | c.887-950A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46374740 | |||||||
chr2:46374767 | A | G | 3 | a0001c0001t0001g0136 a0002c0002t0019g0019 a0002c0002t0019g0029 |
3 | HG03139.hp2 HG06807.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.887-923A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46374767 | |||||||
chr2:46374825 | G | T | 1 | a0001c0001t0001g0148 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.887-865G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46374825 | |||||||
chr2:46374929 | C | T | 2 | a0004c0007t0013g0058 a0004c0007t0013g0175 |
2 | HG02886.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.887-761C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46374929 | |||||||
chr2:46375012 | G | C | 3 | a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0252 |
3 | HG00140.hp2 HG01071.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.887-678G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46375012 | |||||||
chr2:46375019 | C | A | 11 | a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0179 others(8): Show |
11 | HG02257.hp1 HG02451.hp1 HG02486.hp1 others(8): Show |
intron_variant | MODIFIER | c.887-671C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46375019 | |||||||
chr2:46375032 | G | T | 4 | a0001c0001t0001g0063 a0001c0001t0001g0121 a0001c0001t0001g0162 others(1): Show |
4 | HG02602.hp2 HG03688.hp1 HG04115.hp2 others(1): Show |
intron_variant | MODIFIER | c.887-658G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46375032 | |||||||
chr2:46375112 | G | A | 133 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(130): Show |
140 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(137): Show |
intron_variant | MODIFIER | c.887-578G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46375112 | |||||||
chr2:46375166 | G | A | 1 | a0001c0001t0001g0075 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.887-524G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46375166 | |||||||
chr2:46375178 | G | GA | 58 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(55): Show |
62 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(59): Show |
intron_variant | MODIFIER | c.887-501dupA | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr2 | 46375178 | ||||||
chr2:46375178 | G | GAA | 16 | a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0084 others(13): Show |
17 | HG00735.hp1 HG00735.hp2 HG01257.hp1 others(14): Show |
intron_variant | MODIFIER | c.887-502_887-501dup others(2): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr2 | 46375178 | ||||||
chr2:46375190 | C | A | 92 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(89): Show |
98 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(95): Show |
intron_variant | MODIFIER | c.887-500C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46375190 | |||||||
chr2:46375190 | C | CA | 14 | a0001c0001t0001g0057 a0001c0001t0001g0088 a0001c0001t0001g0122 others(11): Show |
15 | HG01168.hp2 HG01243.hp1 HG02622.hp2 others(12): Show |
intron_variant | MODIFIER | c.887-491dupA | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr2 | 46375190 | ||||||
chr2:46375190 | CA | C | 40 | a0001c0001t0001g0075 a0001c0001t0001g0292 a0001c0001t0001g0293 others(37): Show |
41 | HG01255.hp1 HG01261.hp1 HG02071.hp2 others(38): Show |
intron_variant | MODIFIER | c.887-491delA | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr2 | 46375190 | ||||||
chr2:46375191 | A | C | 22 | a0001c0001t0008g0001 a0001c0001t0008g0048 a0001c0001t0008g0235 others(19): Show |
23 | HG01081.hp2 HG01109.hp1 HG01109.hp2 others(20): Show |
intron_variant | MODIFIER | c.887-499A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46375191 | |||||||
chr2:46375199 | A | C | 5 | a0002c0002t0001g0055 a0002c0002t0001g0182 a0002c0002t0005g0014 others(2): Show |
5 | HG01175.hp1 HG02055.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.887-491A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46375199 | |||||||
chr2:46375200 | C | A | 6 | a0001c0001t0001g0298 a0002c0002t0001g0055 a0002c0002t0001g0182 others(3): Show |
6 | HG01074.hp2 HG01175.hp1 HG02055.hp2 others(3): Show |
intron_variant | MODIFIER | c.887-490C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46375200 | |||||||
chr2:46375269 | C | CAG | 145 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(142): Show |
152 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(149): Show |
intron_variant | MODIFIER | c.887-421_887-420ins others(2): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46375269 | |||||||
chr2:46375278 | G | A | 2 | a0004c0007t0013g0058 a0004c0007t0013g0175 |
2 | HG02886.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.887-412G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46375278 | |||||||
chr2:46375484 | C | T | 1 | a0007c0008t0042g0025 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.887-206C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46375484 | |||||||
chr2:46375503 | A | G | 1 | a0001c0001t0001g0273 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.887-187A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46375503 | |||||||
chr2:46375536 | C | T | 1 | a0007c0008t0042g0025 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.887-154C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46375536 | |||||||
chr2:46375539 | C | A | 52 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(49): Show |
57 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(54): Show |
intron_variant | MODIFIER | c.887-151C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46375539 | |||||||
chr2:46375573 | C | T | 1 | a0001c0001t0001g0176 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.887-117C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46375573 | |||||||
chr2:46375583 | T | C | 55 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(52): Show |
60 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(57): Show |
intron_variant | MODIFIER | c.887-107T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46375583 | |||||||
chr2:46375614 | C | T | 3 | a0001c0001t0001g0151 a0001c0001t0001g0261 a0001c0001t0003g0258 |
3 | NA18953.hp1 NA18957.hp2 NA19005.hp1 |
intron_variant | MODIFIER | c.887-76C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46375614 | |||||||
chr2:46375623 | C | A | 1 | a0001c0001t0007g0223 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.887-67C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46375623 | |||||||
chr2:46375627 | T | C | 2 | a0001c0001t0007g0223 a0007c0008t0042g0025 |
2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.887-63T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46375627 | |||||||
chr2:46375939 | C | T | 16 | a0003c0003t0006g0045 a0003c0003t0006g0050 a0003c0003t0006g0053 others(13): Show |
16 | HG01081.hp2 HG01109.hp1 HG01175.hp1 others(13): Show |
intron_variant | MODIFIER | c.1034+102C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 8/15 | chr2 | 46375939 | |||||||
chr2:46375949 | A | G | 4 | a0002c0002t0001g0055 a0002c0002t0001g0182 a0002c0002t0005g0014 others(1): Show |
4 | HG02055.hp2 HG02630.hp2 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.1034+112A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 8/15 | chr2 | 46375949 | |||||||
chr2:46376026 | A | G | 53 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(50): Show |
58 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(55): Show |
intron_variant | MODIFIER | c.1034+189A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 8/15 | chr2 | 46376026 | |||||||
chr2:46376050 | C | T | 1 | a0001c0001t0001g0105 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.1034+213C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 8/15 | chr2 | 46376050 | |||||||
chr2:46376051 | G | A | 1 | a0001c0001t0024g0067 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.1034+214G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 8/15 | chr2 | 46376051 | |||||||
chr2:46376118 | A | C | 6 | a0001c0001t0001g0136 a0001c0001t0007g0223 a0002c0002t0001g0154 others(3): Show |
6 | HG01255.hp1 HG02257.hp2 HG03139.hp2 others(3): Show |
intron_variant | MODIFIER | c.1034+281A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 8/15 | chr2 | 46376118 | |||||||
chr2:46376121 | C | T | 53 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(50): Show |
58 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(55): Show |
intron_variant | MODIFIER | c.1034+284C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 8/15 | chr2 | 46376121 | |||||||
chr2:46376171 | GA | G | 57 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(54): Show |
62 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(59): Show |
intron_variant | MODIFIER | c.1034+344delA | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr2 | 46376171 | ||||||
chr2:46376299 | A | G | 53 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(50): Show |
58 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(55): Show |
intron_variant | MODIFIER | c.1035-240A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 8/15 | chr2 | 46376299 | |||||||
chr2:46376374 | A | G | 3 | a0001c0001t0001g0054 a0001c0001t0023g0141 a0002c0002t0005g0018 |
3 | HG02717.hp1 HG02965.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.1035-165A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 8/15 | chr2 | 46376374 | |||||||
chr2:46376377 | G | A | 1 | a0001c0001t0001g0070 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.1035-162G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 8/15 | chr2 | 46376377 | |||||||
chr2:46376412 | C | T | 3 | a0004c0007t0013g0058 a0004c0007t0013g0175 a0007c0008t0042g0025 |
3 | HG02886.hp1 HG02976.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1035-127C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 8/15 | chr2 | 46376412 | |||||||
chr2:46376445 | G | A | 1 | a0007c0008t0042g0025 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1035-94G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 8/15 | chr2 | 46376445 | |||||||
chr2:46376461 | A | G | 1 | a0001c0001t0001g0211 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.1035-78A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 8/15 | chr2 | 46376461 | |||||||
chr2:46376493 | T | G | 1 | a0001c0001t0001g0142 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1035-46T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 8/15 | chr2 | 46376493 | |||||||
chr2:46376501 | A | C | 3 | a0002c0002t0001g0055 a0002c0002t0001g0182 a0002c0002t0005g0014 |
3 | HG02055.hp2 HG06807.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.1035-38A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 8/15 | chr2 | 46376501 | |||||||
chr2:46376522 | T | C | 1 | a0001c0001t0001g0278 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1035-17T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 8/15 | chr2 | 46376522 | |||||||
chr2:46376524 | T | C | 2 | a0001c0005t0001g0073 a0001c0005t0018g0183 |
2 | HG00099.hp2 HG01358.hp2 |
intron_variant | MODIFIER | c.1035-15T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 8/15 | chr2 | 46376524 | |||||||
chr2:46376532 | C | G | 74 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(71): Show |
80 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(77): Show |
splice_region_variant&intron_variant | LOW | c.1035-7C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 8/15 | chr2 | 46376532 | |||||||
chr2:46376791 | C | T | 11 | a0002c0002t0001g0154 a0002c0002t0004g0042 a0003c0003t0006g0045 others(8): Show |
11 | HG01109.hp1 HG01175.hp1 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.1249+38C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/15 | chr2 | 46376791 | |||||||
chr2:46376851 | C | A | 3 | a0001c0001t0001g0148 a0001c0001t0001g0278 a0001c0001t0001g0293 |
3 | HG02818.hp2 HG02970.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.1249+98C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/15 | chr2 | 46376851 | |||||||
chr2:46376904 | C | T | 50 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(47): Show |
55 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(52): Show |
intron_variant | MODIFIER | c.1249+151C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/15 | chr2 | 46376904 | |||||||
chr2:46376962 | G | C | 1 | a0001c0001t0001g0221 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.1249+209G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/15 | chr2 | 46376962 | |||||||
chr2:46377024 | C | T | 1 | a0001c0001t0004g0180 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1249+271C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/15 | chr2 | 46377024 | |||||||
chr2:46377111 | G | A | 1 | a0001c0001t0001g0091 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.1249+358G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/15 | chr2 | 46377111 | |||||||
chr2:46377249 | C | A | 1 | a0001c0001t0007g0223 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.1249+496C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/15 | chr2 | 46377249 | |||||||
chr2:46377300 | G | A | 2 | a0004c0007t0013g0058 a0004c0007t0013g0175 |
2 | HG02886.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.1249+547G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/15 | chr2 | 46377300 | |||||||
chr2:46377373 | C | T | 49 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(46): Show |
54 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(51): Show |
intron_variant | MODIFIER | c.1250-521C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/15 | chr2 | 46377373 | |||||||
chr2:46377454 | G | T | 52 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(49): Show |
57 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(54): Show |
intron_variant | MODIFIER | c.1250-440G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/15 | chr2 | 46377454 | |||||||
chr2:46377465 | G | A | 1 | a0002c0002t0001g0055 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.1250-429G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/15 | chr2 | 46377465 | |||||||
chr2:46377486 | A | G | 1 | a0001c0001t0017g0230 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1250-408A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/15 | chr2 | 46377486 | |||||||
chr2:46377493 | A | C | 2 | a0001c0001t0028g0271 a0002c0015t0031g0194 |
2 | HG03195.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1250-401A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/15 | chr2 | 46377493 | |||||||
chr2:46377542 | T | C | 6 | a0001c0001t0001g0316 a0002c0002t0001g0159 a0002c0002t0001g0208 others(3): Show |
6 | HG02683.hp2 NA18952.hp2 NA18973.hp1 others(3): Show |
intron_variant | MODIFIER | c.1250-352T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/15 | chr2 | 46377542 | |||||||
chr2:46377567 | A | G | 43 | a0001c0001t0001g0316 a0001c0016t0005g0032 a0002c0002t0001g0006 others(40): Show |
44 | HG00408.hp1 HG02071.hp2 HG02145.hp2 others(41): Show |
intron_variant | MODIFIER | c.1250-327A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/15 | chr2 | 46377567 | |||||||
chr2:46377689 | C | G | 1 | a0002c0002t0043g0039 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1250-205C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/15 | chr2 | 46377689 | |||||||
chr2:46377718 | T | C | 39 | a0001c0001t0001g0316 a0001c0016t0005g0032 a0002c0002t0001g0006 others(36): Show |
40 | HG00408.hp1 HG02071.hp2 HG02145.hp2 others(37): Show |
intron_variant | MODIFIER | c.1250-176T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/15 | chr2 | 46377718 | |||||||
chr2:46377770 | G | T | 1 | a0001c0001t0001g0306 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.1250-124G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/15 | chr2 | 46377770 | |||||||
chr2:46377851 | C | T | 1 | a0002c0002t0001g0159 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.1250-43C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/15 | chr2 | 46377851 | |||||||
chr2:46377872 | T | C | 3 | a0001c0001t0017g0230 a0001c0001t0017g0300 a0001c0001t0041g0028 |
3 | HG01243.hp2 HG02647.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.1250-22T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/15 | chr2 | 46377872 | |||||||
chr2:46377874 | C | A | 1 | a0001c0001t0004g0180 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1250-20C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/15 | chr2 | 46377874 | |||||||
chr2:46377874 | C | T | 3 | a0001c0001t0017g0230 a0001c0001t0017g0300 a0001c0001t0041g0028 |
3 | HG01243.hp2 HG02647.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.1250-20C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/15 | chr2 | 46377874 | |||||||
chr2:46378148 | A | G | 34 | a0001c0001t0001g0054 a0001c0001t0008g0001 a0001c0001t0008g0048 others(31): Show |
35 | HG00099.hp2 HG01081.hp2 HG01109.hp1 others(32): Show |
intron_variant | MODIFIER | c.1443+61A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 10/15 | chr2 | 46378148 | |||||||
chr2:46378438 | C | T | 10 | a0003c0003t0006g0045 a0003c0003t0006g0050 a0003c0003t0006g0053 others(7): Show |
10 | HG01109.hp1 HG01175.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.1444-219C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 10/15 | chr2 | 46378438 | |||||||
chr2:46378520 | A | G | 143 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(140): Show |
150 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(147): Show |
intron_variant | MODIFIER | c.1444-137A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 10/15 | chr2 | 46378520 | |||||||
chr2:46378577 | G | T | 1 | a0002c0002t0001g0006 | 2 | NA18951.hp2 NA19087.hp1 |
intron_variant | MODIFIER | c.1444-80G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 10/15 | chr2 | 46378577 | |||||||
chr2:46378614 | G | A | 1 | a0001c0001t0001g0136 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1444-43G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 10/15 | chr2 | 46378614 | |||||||
chr2:46378796 | T | G | 15 | a0002c0002t0001g0006 a0002c0002t0001g0060 a0002c0002t0001g0117 others(12): Show |
16 | HG00408.hp1 HG02071.hp2 NA18951.hp2 others(13): Show |
intron_variant | MODIFIER | c.1554+29T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 11/15 | chr2 | 46378796 | |||||||
chr2:46378815 | G | C | 53 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(50): Show |
58 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(55): Show |
intron_variant | MODIFIER | c.1554+48G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 11/15 | chr2 | 46378815 | |||||||
chr2:46378896 | G | A | 1 | a0001c0001t0028g0271 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1554+129G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 11/15 | chr2 | 46378896 | |||||||
chr2:46378959 | A | G | 4 | a0002c0002t0004g0042 a0002c0002t0019g0019 a0002c0002t0019g0029 others(1): Show |
4 | HG02257.hp2 HG02630.hp2 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.1554+192A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 11/15 | chr2 | 46378959 | |||||||
chr2:46379215 | T | C | 2 | a0001c0001t0007g0223 a0007c0008t0042g0025 |
2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1554+448T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 11/15 | chr2 | 46379215 | |||||||
chr2:46379218 | A | G | 1 | a0001c0001t0002g0272 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.1554+451A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 11/15 | chr2 | 46379218 | |||||||
chr2:46379267 | C | T | 1 | a0001c0001t0002g0099 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1554+500C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 11/15 | chr2 | 46379267 | |||||||
chr2:46379282 | C | T | 1 | a0002c0002t0015g0296 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1554+515C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 11/15 | chr2 | 46379282 | |||||||
chr2:46379307 | C | T | 1 | a0001c0001t0008g0001 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1554+540C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 11/15 | chr2 | 46379307 | |||||||
chr2:46379332 | ACCATTAA others(44): Show |
A | 1 | a0001c0001t0001g0051 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.1554+566_1554+616d others(53): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 11/15 | chr2 | 46379332 | |||||||
chr2:46379358 | C | G | 3 | a0001c0001t0001g0081 a0001c0001t0001g0245 a0001c0001t0001g0279 |
3 | NA19056.hp2 NA19062.hp1 NA19076.hp2 |
intron_variant | MODIFIER | c.1554+591C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 11/15 | chr2 | 46379358 | |||||||
chr2:46379534 | C | A | 3 | a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0062 |
3 | HG00140.hp1 HG01257.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.1555-693C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 11/15 | chr2 | 46379534 | |||||||
chr2:46379617 | G | A | 12 | a0003c0003t0006g0045 a0003c0003t0006g0050 a0003c0003t0006g0053 others(9): Show |
12 | HG01109.hp1 HG01175.hp1 HG01891.hp2 others(9): Show |
intron_variant | MODIFIER | c.1555-610G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 11/15 | chr2 | 46379617 | |||||||
chr2:46379634 | CCTGCT | C | 69 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(66): Show |
74 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(71): Show |
intron_variant | MODIFIER | c.1555-592_1555-588d others(7): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 11/15 | chr2 | 46379634 | |||||||
chr2:46379643 | ATCAT | A | 69 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(66): Show |
74 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(71): Show |
intron_variant | MODIFIER | c.1555-583_1555-580d others(6): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 11/15 | chr2 | 46379643 | |||||||
chr2:46379649 | C | T | 54 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(51): Show |
59 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(56): Show |
intron_variant | MODIFIER | c.1555-578C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 11/15 | chr2 | 46379649 | |||||||
chr2:46379883 | C | T | 1 | a0001c0001t0001g0133 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.1555-344C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 11/15 | chr2 | 46379883 | |||||||
chr2:46379942 | A | G | 21 | a0003c0003t0006g0045 a0003c0003t0006g0050 a0003c0003t0006g0053 others(18): Show |
21 | HG01081.hp2 HG01109.hp1 HG01175.hp1 others(18): Show |
intron_variant | MODIFIER | c.1555-285A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 11/15 | chr2 | 46379942 | |||||||
chr2:46380099 | G | C | 3 | a0002c0002t0004g0042 a0002c0002t0019g0019 a0002c0002t0019g0029 |
3 | HG02257.hp2 HG03139.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.1555-128G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 11/15 | chr2 | 46380099 | |||||||
chr2:46380723 | T | TG | 3 | a0001c0001t0017g0230 a0001c0001t0017g0300 a0001c0001t0041g0028 |
3 | HG01243.hp2 HG02647.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.2045+8dupG | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | 46380723 | ||||||
chr2:46380752 | C | T | 1 | a0003c0003t0006g0071 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.2045+35C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 12/15 | chr2 | 46380752 | |||||||
chr2:46380961 | C | A | 2 | a0001c0001t0011g0138 a0001c0001t0011g0140 |
2 | HG02717.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.2045+244C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 12/15 | chr2 | 46380961 | |||||||
chr2:46380973 | C | T | 1 | a0002c0015t0031g0194 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.2045+256C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 12/15 | chr2 | 46380973 | |||||||
chr2:46381012 | A | G | 1 | a0001c0001t0001g0165 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.2045+295A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 12/15 | chr2 | 46381012 | |||||||
chr2:46381194 | C | A | 92 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(89): Show |
98 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(95): Show |
intron_variant | MODIFIER | c.2046-402C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 12/15 | chr2 | 46381194 | |||||||
chr2:46381403 | C | G | 57 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(54): Show |
62 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(59): Show |
intron_variant | MODIFIER | c.2046-193C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 12/15 | chr2 | 46381403 | |||||||
chr2:46381540 | A | C | 1 | a0001c0001t0001g0255 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.2046-56A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 12/15 | chr2 | 46381540 | |||||||
chr2:46381577 | G | A | 1 | a0001c0001t0024g0067 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.2046-19G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 12/15 | chr2 | 46381577 | |||||||
chr2:46381755 | CCATAGCC others(54): Show |
C | 1 | a0001c0001t0001g0282 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.2172+97_2173-96del others(61): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr2 | 46381755 | ||||||
chr2:46381857 | G | C | 1 | a0001c0016t0005g0032 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.2173-118G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 13/15 | chr2 | 46381857 | |||||||
chr2:46381906 | C | G | 28 | a0002c0002t0001g0006 a0002c0002t0001g0060 a0002c0002t0001g0103 others(25): Show |
29 | HG00408.hp1 HG02071.hp2 HG02257.hp2 others(26): Show |
intron_variant | MODIFIER | c.2173-69C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 13/15 | chr2 | 46381906 | |||||||
chr2:46381948 | C | T | 6 | a0001c0001t0001g0148 a0001c0001t0001g0278 a0001c0001t0001g0293 others(3): Show |
7 | HG01109.hp2 HG02818.hp2 HG02896.hp1 others(4): Show |
intron_variant | MODIFIER | c.2173-27C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 13/15 | chr2 | 46381948 | |||||||
chr2:46382139 | C | T | 2 | a0002c0002t0001g0154 a0002c0002t0005g0018 |
2 | HG02965.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.2287+50C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 14/15 | chr2 | 46382139 | |||||||
chr2:46382212 | T | G | 1 | a0007c0008t0042g0025 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2287+123T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 14/15 | chr2 | 46382212 | |||||||
chr2:46382236 | C | T | 1 | a0001c0001t0002g0079 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.2287+147C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 14/15 | chr2 | 46382236 | |||||||
chr2:46382264 | C | T | 5 | a0001c0001t0001g0148 a0001c0001t0001g0278 a0001c0001t0001g0293 others(2): Show |
5 | HG02818.hp2 HG02970.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2288-161C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 14/15 | chr2 | 46382264 | |||||||
chr2:46382307 | T | TG | 7 | a0001c0001t0001g0148 a0001c0001t0001g0278 a0001c0001t0001g0293 others(4): Show |
8 | HG01109.hp2 HG02818.hp2 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.2288-116dupG | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr2 | 46382307 | ||||||
chr2:46382399 | G | A | 21 | a0003c0003t0006g0045 a0003c0003t0006g0050 a0003c0003t0006g0053 others(18): Show |
21 | HG01081.hp2 HG01109.hp1 HG01175.hp1 others(18): Show |
intron_variant | MODIFIER | c.2288-26G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 14/15 | chr2 | 46382399 | |||||||
chr2:46382625 | C | G | 3 | a0002c0002t0001g0055 a0002c0002t0001g0182 a0002c0002t0005g0014 |
3 | HG02055.hp2 HG06807.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.2461+27C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46382625 | |||||||
chr2:46382818 | A | G | 122 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(119): Show |
129 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(126): Show |
intron_variant | MODIFIER | c.2461+220A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46382818 | |||||||
chr2:46382822 | A | T | 7 | a0001c0001t0001g0148 a0001c0001t0001g0278 a0001c0001t0001g0293 others(4): Show |
8 | HG01109.hp2 HG02818.hp2 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.2461+224A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46382822 | |||||||
chr2:46382827 | A | T | 60 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(57): Show |
65 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(62): Show |
intron_variant | MODIFIER | c.2461+229A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46382827 | |||||||
chr2:46382832 | A | C | 52 | a0001c0001t0001g0148 a0001c0001t0001g0278 a0001c0001t0001g0293 others(49): Show |
54 | HG00408.hp1 HG01109.hp2 HG01255.hp1 others(51): Show |
intron_variant | MODIFIER | c.2461+234A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46382832 | |||||||
chr2:46382832 | A | G | 1 | a0001c0001t0001g0263 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.2461+234A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46382832 | |||||||
chr2:46382993 | T | C | 1 | a0007c0008t0042g0025 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2461+395T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46382993 | |||||||
chr2:46383004 | AAGAGAAA others(8): Show |
A | 5 | a0001c0001t0001g0082 a0001c0001t0001g0090 a0001c0001t0001g0120 others(2): Show |
5 | HG01071.hp2 HG01928.hp1 HG01978.hp2 others(2): Show |
intron_variant | MODIFIER | c.2461+412_2461+426d others(17): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | 46383004 | ||||||
chr2:46383036 | C | G | 133 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(130): Show |
140 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(137): Show |
intron_variant | MODIFIER | c.2461+438C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46383036 | |||||||
chr2:46383049 | G | A | 4 | a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0062 others(1): Show |
4 | HG00140.hp1 HG01257.hp2 HG01258.hp1 others(1): Show |
intron_variant | MODIFIER | c.2461+451G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46383049 | |||||||
chr2:46383050 | G | A | 1 | a0001c0001t0004g0149 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.2461+452G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46383050 | |||||||
chr2:46383073 | A | C | 62 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(59): Show |
67 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(64): Show |
intron_variant | MODIFIER | c.2461+475A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46383073 | |||||||
chr2:46383081 | C | T | 1 | a0001c0001t0023g0141 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.2461+483C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46383081 | |||||||
chr2:46383131 | C | T | 2 | a0001c0001t0010g0003 a0001c0001t0044g0216 |
3 | HG00280.hp1 HG01074.hp1 HG01099.hp2 |
intron_variant | MODIFIER | c.2461+533C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46383131 | |||||||
chr2:46383180 | G | A | 1 | a0001c0001t0004g0277 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.2461+582G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46383180 | |||||||
chr2:46383270 | C | G | 29 | a0001c0001t0001g0054 a0001c0001t0023g0141 a0001c0005t0001g0073 others(26): Show |
29 | HG00099.hp2 HG01081.hp2 HG01109.hp1 others(26): Show |
intron_variant | MODIFIER | c.2461+672C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46383270 | |||||||
chr2:46383272 | T | A | 1 | a0002c0002t0043g0039 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.2461+674T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46383272 | |||||||
chr2:46383340 | A | G | 83 | a0001c0001t0001g0054 a0001c0001t0001g0088 a0001c0001t0001g0122 others(80): Show |
85 | HG00099.hp2 HG00408.hp1 HG01081.hp2 others(82): Show |
intron_variant | MODIFIER | c.2461+742A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46383340 | |||||||
chr2:46383341 | A | G | 1 | a0001c0016t0005g0032 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.2461+743A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46383341 | |||||||
chr2:46383385 | T | C | 21 | a0003c0003t0006g0045 a0003c0003t0006g0050 a0003c0003t0006g0053 others(18): Show |
21 | HG01081.hp2 HG01109.hp1 HG01175.hp1 others(18): Show |
intron_variant | MODIFIER | c.2461+787T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46383385 | |||||||
chr2:46383419 | G | C | 1 | a0003c0003t0009g0317 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2461+821G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46383419 | |||||||
chr2:46383466 | T | G | 81 | a0001c0001t0001g0054 a0001c0001t0001g0148 a0001c0001t0001g0278 others(78): Show |
83 | HG00099.hp2 HG00408.hp1 HG01081.hp2 others(80): Show |
intron_variant | MODIFIER | c.2461+868T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46383466 | |||||||
chr2:46383541 | A | C | 137 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(134): Show |
143 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(140): Show |
intron_variant | MODIFIER | c.2461+943A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46383541 | |||||||
chr2:46383643 | T | C | 5 | a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0115 others(2): Show |
5 | HG02056.hp2 NA18953.hp2 NA18954.hp1 others(2): Show |
intron_variant | MODIFIER | c.2462-866T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46383643 | |||||||
chr2:46383649 | G | A | 1 | a0001c0001t0001g0170 | 1 | NA18999.hp1 | intron_variant | MODIFIER | c.2462-860G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46383649 | |||||||
chr2:46383777 | T | C | 3 | a0002c0002t0015g0189 a0002c0002t0020g0020 a0002c0002t0020g0033 |
3 | HG02451.hp1 HG03098.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.2462-732T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46383777 | |||||||
chr2:46384177 | A | G | 2 | a0002c0002t0001g0154 a0002c0002t0005g0018 |
2 | HG02965.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.2462-332A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46384177 | |||||||
chr2:46384300 | C | G | 1 | a0001c0001t0001g0095 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.2462-209C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46384300 | |||||||
chr2:46384332 | G | A | 101 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(98): Show |
107 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(104): Show |
intron_variant | MODIFIER | c.2462-177G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46384332 | |||||||
chr2:46384379 | G | C | 2 | a0002c0002t0001g0154 a0002c0002t0005g0018 |
2 | HG02965.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.2462-130G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46384379 | |||||||
chr2:46384409 | T | A | 1 | a0002c0015t0031g0194 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.2462-100T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46384409 |