Item | Value |
---|---|
geneid | 2033 |
ensemblid | ENSG00000100393.15 |
hgncid | 3373 |
symbol | EP300 |
name | E1A binding protein p300 |
refseq_nuc | NM_001429.4 |
refseq_prot | NP_001420.2 |
ensembl_nuc | ENST00000263253.9 |
ensembl_prot | ENSP00000263253.7 |
mane_status | MANE Select |
chr | chr22 |
start | 41092592 |
end | 41180077 |
strand | + |
ver | v1.2 |
region | chr22:41092592-41180077 |
region5000 | chr22:41087592-41185077 |
regionname0 | EP300_chr22_41092592_41180077 |
regionname5000 | EP300_chr22_41087592_41185077 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 1/0 | 2414 | 241 | 82 | 29 | 96 | 10 | 23 | 70 | EP300_chr22_41087592_41185077 | EP300 | MAENV others(2409): Show |
chr22 | 41087592 | 41185077 |
a0002 | 0/1 | 2414 | 47 | 2 | 20 | 6 | 4 | 14 | 0 | EP300_chr22_41087592_41185077 | EP300 | MAENV others(2409): Show |
chr22 | 41087592 | 41185077 |
a0003 | 0/0 | 2414 | 3 | 0 | 0 | 3 | 0 | 0 | 3 | EP300_chr22_41087592_41185077 | EP300 | MAENV others(2409): Show |
chr22 | 41087592 | 41185077 |
a0004 | 0/0 | 2414 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | MAENV others(2409): Show |
chr22 | 41087592 | 41185077 |
a0005 | 0/0 | 2414 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | MAENV others(2409): Show |
chr22 | 41087592 | 41185077 |
a0006 | 0/0 | 2414 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | MAENV others(2409): Show |
chr22 | 41087592 | 41185077 |
a0007 | 0/0 | 2414 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | MAENV others(2409): Show |
chr22 | 41087592 | 41185077 |
a0008 | 0/0 | 2414 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | MAENV others(2409): Show |
chr22 | 41087592 | 41185077 |
a0009 | 0/0 | 2414 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | MAENV others(2409): Show |
chr22 | 41087592 | 41185077 |
a0010 | 0/0 | 2414 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | MAENV others(2409): Show |
chr22 | 41087592 | 41185077 |
a0011 | 0/0 | 2414 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | MAENV others(2409): Show |
chr22 | 41087592 | 41185077 |
a0012 | 0/0 | 2414 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | MAENV others(2409): Show |
chr22 | 41087592 | 41185077 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 1/0 | 7242 | 93 | 28 | 18 | 27 | 7 | 12 | EP300_chr22_41087592_41185077 | EP300 | ATGGC others(7237): Show |
chr22 | 41087592 | 41185077 | ||
a0001c0002 | 0/0 | 7242 | 78 | 13 | 8 | 45 | 3 | 9 | EP300_chr22_41087592_41185077 | EP300 | ATGGC others(7237): Show |
chr22 | 41087592 | 41185077 | ||
a0001c0004 | 0/0 | 7242 | 36 | 14 | 2 | 20 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | ATGGC others(7237): Show |
chr22 | 41087592 | 41185077 | ||
a0001c0005 | 0/0 | 7242 | 10 | 10 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | ATGGC others(7237): Show |
chr22 | 41087592 | 41185077 | ||
a0001c0006 | 0/0 | 7242 | 7 | 7 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | ATGGC others(7237): Show |
chr22 | 41087592 | 41185077 | ||
a0001c0007 | 0/0 | 7242 | 3 | 3 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | ATGGC others(7237): Show |
chr22 | 41087592 | 41185077 | ||
a0001c0009 | 0/0 | 7242 | 2 | 1 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | ATGGC others(7237): Show |
chr22 | 41087592 | 41185077 | ||
a0001c0010 | 0/0 | 7242 | 2 | 2 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | ATGGC others(7237): Show |
chr22 | 41087592 | 41185077 | ||
a0001c0011 | 0/0 | 7242 | 2 | 0 | 0 | 2 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | ATGGC others(7237): Show |
chr22 | 41087592 | 41185077 | ||
a0001c0013 | 0/0 | 7242 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | ATGGC others(7237): Show |
chr22 | 41087592 | 41185077 | ||
a0001c0016 | 0/0 | 7242 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | ATGGC others(7237): Show |
chr22 | 41087592 | 41185077 | ||
a0001c0018 | 0/0 | 7242 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | ATGGC others(7237): Show |
chr22 | 41087592 | 41185077 | ||
a0001c0021 | 0/0 | 7242 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | ATGGC others(7237): Show |
chr22 | 41087592 | 41185077 | ||
a0001c0022 | 0/0 | 7242 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | ATGGC others(7237): Show |
chr22 | 41087592 | 41185077 | ||
a0001c0023 | 0/0 | 7242 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | ATGGC others(7237): Show |
chr22 | 41087592 | 41185077 | ||
a0001c0028 | 0/0 | 7242 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | ATGGC others(7237): Show |
chr22 | 41087592 | 41185077 | ||
a0001c0030 | 0/0 | 7242 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | ATGGC others(7237): Show |
chr22 | 41087592 | 41185077 | ||
a0002c0003 | 0/1 | 7242 | 44 | 2 | 18 | 6 | 4 | 13 | EP300_chr22_41087592_41185077 | EP300 | ATGGC others(7237): Show |
chr22 | 41087592 | 41185077 | ||
a0002c0024 | 0/0 | 7242 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | ATGGC others(7237): Show |
chr22 | 41087592 | 41185077 | ||
a0002c0027 | 0/0 | 7242 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | ATGGC others(7237): Show |
chr22 | 41087592 | 41185077 | ||
a0002c0029 | 0/0 | 7242 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | ATGGC others(7237): Show |
chr22 | 41087592 | 41185077 | ||
a0003c0008 | 0/0 | 7242 | 3 | 0 | 0 | 3 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | ATGGC others(7237): Show |
chr22 | 41087592 | 41185077 | ||
a0004c0026 | 0/0 | 7242 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | ATGGC others(7237): Show |
chr22 | 41087592 | 41185077 | ||
a0005c0019 | 0/0 | 7242 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | ATGGC others(7237): Show |
chr22 | 41087592 | 41185077 | ||
a0006c0031 | 0/0 | 7242 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | ATGGC others(7237): Show |
chr22 | 41087592 | 41185077 | ||
a0007c0012 | 0/0 | 7242 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | ATGGC others(7237): Show |
chr22 | 41087592 | 41185077 | ||
a0008c0025 | 0/0 | 7242 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | ATGGC others(7237): Show |
chr22 | 41087592 | 41185077 | ||
a0009c0020 | 0/0 | 7242 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | ATGGC others(7237): Show |
chr22 | 41087592 | 41185077 | ||
a0010c0014 | 0/0 | 7242 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | ATGGC others(7237): Show |
chr22 | 41087592 | 41185077 | ||
a0011c0017 | 0/0 | 7242 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | ATGGC others(7237): Show |
chr22 | 41087592 | 41185077 | ||
a0012c0015 | 0/0 | 7242 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | ATGGC others(7237): Show |
chr22 | 41087592 | 41185077 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 1/0 | 8779 | 79 | 18 | 18 | 25 | 7 | 10 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8774): Show |
chr22 | 41087592 | 41185077 |
a0001c0001t0004 | 0/0 | 8780 | 8 | 7 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8775): Show |
chr22 | 41087592 | 41185077 |
a0001c0001t0013 | 0/0 | 8780 | 4 | 3 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8775): Show |
chr22 | 41087592 | 41185077 |
a0001c0001t0022 | 0/0 | 8779 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8774): Show |
chr22 | 41087592 | 41185077 |
a0001c0001t0035 | 0/0 | 8779 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8774): Show |
chr22 | 41087592 | 41185077 |
a0001c0002t0001 | 0/0 | 8779 | 11 | 3 | 0 | 8 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8774): Show |
chr22 | 41087592 | 41185077 |
a0001c0002t0002 | 0/0 | 8777 | 7 | 6 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8772): Show |
chr22 | 41087592 | 41185077 |
a0001c0002t0003 | 0/0 | 8779 | 10 | 0 | 1 | 6 | 1 | 2 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8774): Show |
chr22 | 41087592 | 41185077 |
a0001c0002t0005 | 0/0 | 8779 | 11 | 0 | 3 | 8 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8774): Show |
chr22 | 41087592 | 41185077 |
a0001c0002t0007 | 0/0 | 8779 | 5 | 0 | 0 | 4 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8774): Show |
chr22 | 41087592 | 41185077 |
a0001c0002t0008 | 0/0 | 8779 | 5 | 0 | 0 | 4 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8774): Show |
chr22 | 41087592 | 41185077 |
a0001c0002t0011 | 0/0 | 8779 | 3 | 0 | 1 | 2 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8774): Show |
chr22 | 41087592 | 41185077 |
a0001c0002t0012 | 0/0 | 8779 | 4 | 0 | 0 | 4 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8774): Show |
chr22 | 41087592 | 41185077 |
a0001c0002t0015 | 0/0 | 8779 | 3 | 1 | 0 | 0 | 0 | 2 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8774): Show |
chr22 | 41087592 | 41185077 |
a0001c0002t0016 | 0/0 | 8779 | 3 | 1 | 0 | 0 | 0 | 2 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8774): Show |
chr22 | 41087592 | 41185077 |
a0001c0002t0017 | 0/0 | 8779 | 2 | 0 | 0 | 2 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8774): Show |
chr22 | 41087592 | 41185077 |
a0001c0002t0018 | 0/0 | 8779 | 2 | 0 | 0 | 1 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8774): Show |
chr22 | 41087592 | 41185077 |
a0001c0002t0019 | 0/0 | 8777 | 2 | 2 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8772): Show |
chr22 | 41087592 | 41185077 |
a0001c0002t0021 | 0/0 | 8779 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8774): Show |
chr22 | 41087592 | 41185077 |
a0001c0002t0023 | 0/0 | 8780 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8775): Show |
chr22 | 41087592 | 41185077 |
a0001c0002t0024 | 0/0 | 8779 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8774): Show |
chr22 | 41087592 | 41185077 |
a0001c0002t0025 | 0/0 | 8779 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8774): Show |
chr22 | 41087592 | 41185077 |
a0001c0002t0026 | 0/0 | 8779 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8774): Show |
chr22 | 41087592 | 41185077 |
a0001c0002t0027 | 0/0 | 8779 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8774): Show |
chr22 | 41087592 | 41185077 |
a0001c0002t0028 | 0/0 | 8779 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8774): Show |
chr22 | 41087592 | 41185077 |
a0001c0002t0029 | 0/0 | 8779 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8774): Show |
chr22 | 41087592 | 41185077 |
a0001c0002t0030 | 0/0 | 8778 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8773): Show |
chr22 | 41087592 | 41185077 |
a0001c0002t0031 | 0/0 | 8780 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8775): Show |
chr22 | 41087592 | 41185077 |
a0001c0004t0001 | 0/0 | 8779 | 29 | 14 | 1 | 14 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8774): Show |
chr22 | 41087592 | 41185077 |
a0001c0004t0004 | 0/0 | 8780 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8775): Show |
chr22 | 41087592 | 41185077 |
a0001c0004t0010 | 0/0 | 8779 | 5 | 0 | 0 | 5 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8774): Show |
chr22 | 41087592 | 41185077 |
a0001c0004t0020 | 0/0 | 8779 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8774): Show |
chr22 | 41087592 | 41185077 |
a0001c0005t0006 | 0/0 | 8779 | 9 | 9 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8774): Show |
chr22 | 41087592 | 41185077 |
a0001c0005t0034 | 0/0 | 8779 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8774): Show |
chr22 | 41087592 | 41185077 |
a0001c0006t0001 | 0/0 | 8779 | 7 | 7 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8774): Show |
chr22 | 41087592 | 41185077 |
a0001c0007t0001 | 0/0 | 8779 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8774): Show |
chr22 | 41087592 | 41185077 |
a0001c0007t0009 | 0/0 | 8778 | 2 | 2 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8773): Show |
chr22 | 41087592 | 41185077 |
a0001c0009t0001 | 0/0 | 8779 | 2 | 1 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8774): Show |
chr22 | 41087592 | 41185077 |
a0001c0010t0001 | 0/0 | 8779 | 2 | 2 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8774): Show |
chr22 | 41087592 | 41185077 |
a0001c0011t0009 | 0/0 | 8778 | 2 | 0 | 0 | 2 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8773): Show |
chr22 | 41087592 | 41185077 |
a0001c0013t0001 | 0/0 | 8779 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8774): Show |
chr22 | 41087592 | 41185077 |
a0001c0016t0011 | 0/0 | 8779 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8774): Show |
chr22 | 41087592 | 41185077 |
a0001c0018t0001 | 0/0 | 8779 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8774): Show |
chr22 | 41087592 | 41185077 |
a0001c0021t0001 | 0/0 | 8779 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8774): Show |
chr22 | 41087592 | 41185077 |
a0001c0022t0001 | 0/0 | 8779 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8774): Show |
chr22 | 41087592 | 41185077 |
a0001c0023t0001 | 0/0 | 8779 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8774): Show |
chr22 | 41087592 | 41185077 |
a0001c0028t0004 | 0/0 | 8780 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8775): Show |
chr22 | 41087592 | 41185077 |
a0001c0030t0004 | 0/0 | 8780 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8775): Show |
chr22 | 41087592 | 41185077 |
a0002c0003t0002 | 0/0 | 8777 | 39 | 1 | 17 | 6 | 3 | 12 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8772): Show |
chr22 | 41087592 | 41185077 |
a0002c0003t0014 | 0/0 | 8755 | 3 | 1 | 0 | 0 | 1 | 1 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8750): Show |
chr22 | 41087592 | 41185077 |
a0002c0003t0032 | 0/0 | 8777 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8772): Show |
chr22 | 41087592 | 41185077 |
a0002c0003t0033 | 0/1 | 8763 | 1 | 0 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8758): Show |
chr22 | 41087592 | 41185077 |
a0002c0024t0002 | 0/0 | 8777 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8772): Show |
chr22 | 41087592 | 41185077 |
a0002c0027t0002 | 0/0 | 8777 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8772): Show |
chr22 | 41087592 | 41185077 |
a0002c0029t0002 | 0/0 | 8777 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8772): Show |
chr22 | 41087592 | 41185077 |
a0003c0008t0001 | 0/0 | 8779 | 3 | 0 | 0 | 3 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8774): Show |
chr22 | 41087592 | 41185077 |
a0004c0026t0002 | 0/0 | 8777 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8772): Show |
chr22 | 41087592 | 41185077 |
a0005c0019t0003 | 0/0 | 8779 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8774): Show |
chr22 | 41087592 | 41185077 |
a0006c0031t0001 | 0/0 | 8779 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8774): Show |
chr22 | 41087592 | 41185077 |
a0007c0012t0014 | 0/0 | 8755 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8750): Show |
chr22 | 41087592 | 41185077 |
a0008c0025t0002 | 0/0 | 8777 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8772): Show |
chr22 | 41087592 | 41185077 |
a0009c0020t0001 | 0/0 | 8779 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8774): Show |
chr22 | 41087592 | 41185077 |
a0010c0014t0009 | 0/0 | 8778 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8773): Show |
chr22 | 41087592 | 41185077 |
a0011c0017t0003 | 0/0 | 8779 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8774): Show |
chr22 | 41087592 | 41185077 |
a0012c0015t0001 | 0/0 | 8779 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | GAGAA others(8774): Show |
chr22 | 41087592 | 41185077 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0206 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0209 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0210 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0212 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0217 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0219 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0221 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0223 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0224 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0225 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0226 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0228 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0229 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0230 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0231 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0232 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0235 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0236 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0237 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0238 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0239 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0240 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0241 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0242 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0244 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0245 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0246 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0249 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0251 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0252 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0253 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0254 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0255 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0256 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0257 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0258 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0259 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0260 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0261 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0262 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0264 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0265 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0266 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0267 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0268 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0269 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0270 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0271 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0273 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0274 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0276 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0278 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0279 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0280 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0281 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0282 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0285 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0286 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0287 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0288 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0289 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0290 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0291 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0292 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0293 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0294 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0001g0295 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0004g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0004g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0004g0189 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0004g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0004g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0004g0263 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0004g0272 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0004g0275 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0013g0233 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0013g0277 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0013g0283 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0013g0284 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0022g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0035g0248 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0001g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0001g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0001g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0001g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0001g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0001g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0001g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0001g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0001g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0001g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0001g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0002g0103 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0002g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0002g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0002g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0002g0166 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0002g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0002g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0003g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0003g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0003g0063 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0003g0082 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0003g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0003g0085 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0003g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0003g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0003g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0003g0299 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0005g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0005g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0005g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0005g0079 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0005g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0005g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0005g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0005g0105 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0005g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0005g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0005g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0007g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0007g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0007g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0007g0128 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0007g0300 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0008g0060 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0008g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0008g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0008g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0008g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0011g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0011g0086 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0011g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0012g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0012g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0012g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0012g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0015g0054 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0015g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0015g0117 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0016g0076 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0016g0114 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0016g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0017g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0017g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0018g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0018g0089 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0019g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0019g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0021g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0023g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0024g0053 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0025g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0026g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0027g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0028g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0029g0083 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0030g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0031g0081 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0001g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0001g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0001g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0001g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0001g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0001g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0001g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0001g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0001g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0001g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0001g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0001g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0001g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0001g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0001g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0001g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0001g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0001g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0001g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0001g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0001g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0001g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0001g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0001g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0001g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0001g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0001g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0001g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0001g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0004g0028 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0010g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0010g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0010g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0010g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0010g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0020g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0005t0006g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0005t0006g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0005t0006g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0005t0006g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0005t0006g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0005t0006g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0005t0006g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0005t0006g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0005t0006g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0005t0034g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0006t0001g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0006t0001g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0006t0001g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0006t0001g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0006t0001g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0006t0001g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0006t0001g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0007t0001g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0007t0009g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0007t0009g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0009t0001g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0009t0001g0200 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0010t0001g0201 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0010t0001g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0011t0009g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0011t0009g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0013t0001g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0016t0011g0096 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0018t0001g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0021t0001g0298 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0022t0001g0296 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0023t0001g0250 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0028t0004g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0030t0004g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0002g0049 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0002g0050 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0002g0104 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0002g0131 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0002g0133 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0002g0136 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0002g0137 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0002g0140 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0002g0142 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0002g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0002g0147 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0002g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0002g0149 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0002g0150 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0002g0151 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0002g0152 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0002g0153 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0002g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0002g0156 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0002g0157 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0002g0158 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0002g0160 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0002g0162 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0002g0163 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0002g0169 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0002g0170 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0002g0171 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0002g0172 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0002g0173 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0002g0174 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0002g0175 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0002g0176 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0002g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0002g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0002g0180 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0002g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0002g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0002g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0002g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0014g0138 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0014g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0014g0145 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0032g0132 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0033g0161 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0024t0002g0159 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0027t0002g0179 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0029t0002g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0003c0008t0001g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0003c0008t0001g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0003c0008t0001g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0004c0026t0002g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0005c0019t0003g0297 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0006c0031t0001g0247 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0007c0012t0014g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0008c0025t0002g0139 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0009c0020t0001g0186 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0010c0014t0009g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0011c0017t0003g0067 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0012c0015t0001g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00099 | hp1 | a0001 | c0001 | t0001 | g0210 | EUR | GBR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00099 | hp2 | a0002 | c0003 | t0002 | g0156 | EUR | GBR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00140 | hp1 | a0001 | c0002 | t0003 | g0082 | EUR | GBR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00140 | hp2 | a0001 | c0001 | t0001 | g0253 | EUR | GBR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00280 | hp1 | a0001 | c0001 | t0001 | g0267 | EUR | FIN | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00280 | hp2 | a0002 | c0003 | t0002 | g0170 | EUR | FIN | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00323 | hp1 | a0002 | c0003 | t0002 | g0136 | EUR | FIN | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00323 | hp2 | a0001 | c0002 | t0008 | g0060 | EUR | FIN | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00408 | hp1 | a0001 | c0001 | t0001 | g0225 | EAS | CHS | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00408 | hp2 | a0001 | c0002 | t0003 | g0125 | EAS | CHS | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00423 | hp1 | a0001 | c0002 | t0005 | g0126 | EAS | CHS | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00423 | hp2 | a0002 | c0003 | t0002 | g0178 | EAS | CHS | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00544 | hp1 | a0001 | c0004 | t0001 | g0022 | EAS | CHS | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00544 | hp2 | a0001 | c0001 | t0001 | g0217 | EAS | CHS | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00558 | hp1 | a0001 | c0002 | t0003 | g0122 | EAS | CHS | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00558 | hp2 | a0001 | c0001 | t0001 | g0240 | EAS | CHS | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00597 | hp1 | a0004 | c0026 | t0002 | g0185 | EAS | CHS | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00597 | hp2 | a0001 | c0004 | t0001 | g0029 | EAS | CHS | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00609 | hp1 | a0002 | c0003 | t0002 | g0181 | EAS | CHS | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00609 | hp2 | a0005 | c0019 | t0003 | g0297 | EAS | CHS | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00639 | hp1 | a0001 | c0001 | t0001 | g0278 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00639 | hp2 | a0001 | c0002 | t0029 | g0083 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00642 | hp1 | a0001 | c0001 | t0001 | g0239 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00642 | hp2 | a0002 | c0003 | t0002 | g0149 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00673 | hp1 | a0001 | c0002 | t0023 | g0058 | EAS | CHS | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00673 | hp2 | a0001 | c0002 | t0001 | g0087 | EAS | CHS | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00733 | hp1 | a0001 | c0001 | t0001 | g0261 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00733 | hp2 | a0002 | c0003 | t0002 | g0174 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00735 | hp1 | a0001 | c0001 | t0001 | g0268 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00735 | hp2 | a0002 | c0003 | t0002 | g0158 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00738 | hp1 | a0002 | c0003 | t0002 | g0153 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00738 | hp2 | a0001 | c0001 | t0001 | g0265 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01069 | hp1 | a0006 | c0031 | t0001 | g0247 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01069 | hp2 | a0002 | c0003 | t0032 | g0132 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01070 | hp1 | a0002 | c0003 | t0002 | g0157 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01070 | hp2 | a0001 | c0001 | t0001 | g0274 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01081 | hp1 | a0001 | c0001 | t0001 | g0266 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01081 | hp2 | a0001 | c0002 | t0005 | g0079 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01099 | hp1 | a0001 | c0001 | t0001 | g0285 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01099 | hp2 | a0002 | c0003 | t0002 | g0146 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01106 | hp1 | a0001 | c0001 | t0001 | g0238 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01106 | hp2 | a0002 | c0003 | t0002 | g0152 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01109 | hp1 | a0002 | c0003 | t0002 | g0150 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01109 | hp2 | a0001 | c0009 | t0001 | g0200 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01167 | hp1 | a0001 | c0001 | t0001 | g0264 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01167 | hp2 | a0002 | c0003 | t0002 | g0137 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01169 | hp1 | a0001 | c0002 | t0003 | g0055 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01169 | hp2 | a0001 | c0001 | t0001 | g0258 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01175 | hp1 | a0001 | c0002 | t0005 | g0121 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01175 | hp2 | a0007 | c0012 | t0014 | g0143 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01257 | hp1 | a0002 | c0029 | t0002 | g0154 | AMR | CLM | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01257 | hp2 | a0001 | c0002 | t0011 | g0086 | AMR | CLM | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01261 | hp1 | a0001 | c0001 | t0001 | g0228 | AMR | CLM | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01261 | hp2 | a0002 | c0003 | t0002 | g0151 | AMR | CLM | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01346 | hp1 | a0002 | c0003 | t0002 | g0160 | AMR | CLM | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01346 | hp2 | a0001 | c0001 | t0001 | g0246 | AMR | CLM | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01433 | hp1 | a0001 | c0001 | t0001 | g0209 | AMR | CLM | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01433 | hp2 | a0001 | c0001 | t0001 | g0295 | AMR | CLM | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01496 | hp1 | a0001 | c0001 | t0001 | g0271 | AMR | CLM | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01496 | hp2 | a0002 | c0003 | t0002 | g0171 | AMR | CLM | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01516 | hp1 | a0001 | c0002 | t0018 | g0089 | EUR | IBS | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01516 | hp2 | a0001 | c0001 | t0001 | g0241 | EUR | IBS | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01517 | hp1 | a0001 | c0001 | t0001 | g0219 | EUR | IBS | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01517 | hp2 | a0001 | c0001 | t0001 | g0255 | EUR | IBS | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01884 | hp1 | a0001 | c0005 | t0006 | g0113 | AFR | ACB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01884 | hp2 | a0001 | c0001 | t0013 | g0283 | AFR | ACB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01891 | hp1 | a0001 | c0006 | t0001 | g0042 | AFR | ACB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01891 | hp2 | a0001 | c0005 | t0006 | g0112 | AFR | ACB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01934 | hp1 | a0002 | c0003 | t0002 | g0173 | AMR | PEL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01934 | hp2 | a0001 | c0004 | t0001 | g0010 | AMR | PEL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01943 | hp1 | a0002 | c0024 | t0002 | g0159 | AMR | PEL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01943 | hp2 | a0001 | c0001 | t0001 | g0249 | AMR | PEL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01952 | hp1 | a0002 | c0003 | t0002 | g0162 | AMR | PEL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01952 | hp2 | a0001 | c0002 | t0005 | g0105 | AMR | PEL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01981 | hp1 | a0008 | c0025 | t0002 | g0139 | AMR | PEL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01981 | hp2 | a0001 | c0001 | t0001 | g0212 | AMR | PEL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01993 | hp1 | a0002 | c0003 | t0002 | g0131 | AMR | PEL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01993 | hp2 | a0001 | c0002 | t0002 | g0103 | AMR | PEL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02027 | hp1 | a0001 | c0004 | t0001 | g0039 | EAS | KHV | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02027 | hp2 | a0002 | c0003 | t0002 | g0183 | EAS | KHV | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02056 | hp1 | a0001 | c0002 | t0008 | g0124 | EAS | KHV | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02056 | hp2 | a0001 | c0004 | t0001 | g0038 | EAS | KHV | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02071 | hp1 | a0001 | c0002 | t0001 | g0075 | EAS | KHV | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02071 | hp2 | a0002 | c0003 | t0002 | g0155 | EAS | KHV | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02083 | hp1 | a0001 | c0002 | t0025 | g0078 | EAS | KHV | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02083 | hp2 | a0001 | c0004 | t0001 | g0023 | EAS | KHV | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02129 | hp1 | a0001 | c0001 | t0001 | g0218 | EAS | KHV | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02129 | hp2 | a0001 | c0002 | t0007 | g0300 | EAS | KHV | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02132 | hp1 | a0001 | c0004 | t0001 | g0026 | EAS | KHV | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02132 | hp2 | a0001 | c0002 | t0003 | g0119 | EAS | KHV | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02145 | hp1 | a0001 | c0004 | t0001 | g0015 | AFR | ACB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02145 | hp2 | a0001 | c0005 | t0006 | g0110 | AFR | ACB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02148 | hp1 | a0002 | c0003 | t0002 | g0148 | AMR | PEL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02148 | hp2 | a0001 | c0004 | t0004 | g0028 | AMR | PEL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02165 | hp1 | a0001 | c0001 | t0001 | g0226 | EAS | CDX | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02165 | hp2 | a0001 | c0021 | t0001 | g0298 | EAS | CDX | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02257 | hp1 | a0001 | c0001 | t0001 | g0242 | AFR | ACB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02257 | hp2 | a0001 | c0006 | t0001 | g0043 | AFR | ACB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02258 | hp1 | a0001 | c0001 | t0013 | g0284 | AFR | ACB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02258 | hp2 | a0001 | c0007 | t0001 | g0198 | AFR | ACB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02280 | hp1 | a0001 | c0002 | t0002 | g0141 | AFR | ACB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02280 | hp2 | a0001 | c0001 | t0001 | g0294 | AFR | ACB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02293 | hp1 | a0002 | c0003 | t0002 | g0169 | AMR | PEL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02293 | hp2 | a0001 | c0002 | t0030 | g0064 | AMR | PEL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02523 | hp1 | a0001 | c0002 | t0003 | g0299 | EAS | KHV | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02523 | hp2 | a0002 | c0003 | t0002 | g0182 | EAS | KHV | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02572 | hp1 | a0001 | c0002 | t0019 | g0102 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02572 | hp2 | a0001 | c0001 | t0001 | g0252 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02602 | hp1 | a0001 | c0002 | t0003 | g0063 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02602 | hp2 | a0002 | c0003 | t0002 | g0172 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02615 | hp1 | a0001 | c0001 | t0004 | g0275 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02615 | hp2 | a0001 | c0013 | t0001 | g0007 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02622 | hp1 | a0001 | c0001 | t0001 | g0276 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02622 | hp2 | a0001 | c0004 | t0001 | g0008 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02630 | hp1 | a0001 | c0002 | t0002 | g0166 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02630 | hp2 | a0001 | c0006 | t0001 | g0046 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02647 | hp1 | a0001 | c0010 | t0001 | g0201 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02647 | hp2 | a0001 | c0002 | t0019 | g0101 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02683 | hp1 | a0002 | c0003 | t0002 | g0175 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02683 | hp2 | a0001 | c0001 | t0001 | g0221 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02698 | hp1 | a0001 | c0001 | t0035 | g0248 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02698 | hp2 | a0002 | c0003 | t0002 | g0140 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02717 | hp1 | a0001 | c0005 | t0006 | g0109 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02717 | hp2 | a0001 | c0001 | t0004 | g0272 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02723 | hp1 | a0001 | c0010 | t0001 | g0202 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02723 | hp2 | a0001 | c0004 | t0001 | g0016 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02735 | hp1 | a0002 | c0027 | t0002 | g0179 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02735 | hp2 | a0001 | c0001 | t0001 | g0206 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02738 | hp1 | a0001 | c0001 | t0001 | g0245 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02738 | hp2 | a0001 | c0001 | t0001 | g0237 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02818 | hp1 | a0009 | c0020 | t0001 | g0186 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02818 | hp2 | a0001 | c0001 | t0013 | g0277 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02886 | hp1 | a0001 | c0004 | t0001 | g0009 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02886 | hp2 | a0001 | c0001 | t0004 | g0195 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02895 | hp1 | a0001 | c0004 | t0001 | g0012 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02895 | hp2 | a0001 | c0001 | t0001 | g0291 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02896 | hp1 | a0001 | c0004 | t0001 | g0005 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02896 | hp2 | a0001 | c0002 | t0001 | g0057 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02897 | hp1 | a0001 | c0002 | t0001 | g0056 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02897 | hp2 | a0001 | c0004 | t0001 | g0013 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02965 | hp1 | a0001 | c0002 | t0002 | g0167 | AFR | ESN | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02965 | hp2 | a0001 | c0001 | t0001 | g0286 | AFR | ESN | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02970 | hp1 | a0001 | c0005 | t0006 | g0108 | AFR | ESN | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02970 | hp2 | a0001 | c0001 | t0004 | g0188 | AFR | ESN | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02976 | hp1 | a0001 | c0001 | t0001 | g0287 | AFR | ESN | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02976 | hp2 | a0001 | c0001 | t0001 | g0270 | AFR | ESN | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03017 | hp1 | a0001 | c0002 | t0024 | g0053 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03017 | hp2 | a0002 | c0003 | t0002 | g0133 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03041 | hp1 | a0001 | c0004 | t0001 | g0003 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03041 | hp2 | a0001 | c0001 | t0001 | g0293 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03098 | hp1 | a0001 | c0004 | t0001 | g0040 | AFR | MSL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03098 | hp2 | a0001 | c0005 | t0006 | g0111 | AFR | MSL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03130 | hp1 | a0001 | c0001 | t0001 | g0280 | AFR | ESN | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03130 | hp2 | a0001 | c0002 | t0002 | g0168 | AFR | ESN | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03139 | hp1 | a0010 | c0014 | t0009 | g0193 | AFR | ESN | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03139 | hp2 | a0001 | c0001 | t0001 | g0282 | AFR | ESN | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03209 | hp1 | a0001 | c0007 | t0009 | g0192 | AFR | MSL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03209 | hp2 | a0001 | c0006 | t0001 | g0048 | AFR | MSL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03225 | hp1 | a0001 | c0005 | t0006 | g0135 | AFR | MSL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03225 | hp2 | a0001 | c0004 | t0001 | g0001 | AFR | MSL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03239 | hp1 | a0001 | c0002 | t0015 | g0054 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03239 | hp2 | a0001 | c0023 | t0001 | g0250 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03453 | hp1 | a0001 | c0005 | t0006 | g0106 | AFR | MSL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03453 | hp2 | a0001 | c0009 | t0001 | g0199 | AFR | MSL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03486 | hp1 | a0001 | c0001 | t0004 | g0189 | AFR | MSL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03486 | hp2 | a0001 | c0002 | t0002 | g0164 | AFR | MSL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03490 | hp1 | a0002 | c0003 | t0002 | g0049 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03490 | hp2 | a0001 | c0001 | t0001 | g0254 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03491 | hp1 | a0001 | c0001 | t0001 | g0260 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03491 | hp2 | a0002 | c0003 | t0014 | g0145 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03492 | hp1 | a0002 | c0003 | t0002 | g0050 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03492 | hp2 | a0001 | c0001 | t0001 | g0256 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03540 | hp1 | a0001 | c0005 | t0006 | g0107 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03540 | hp2 | a0001 | c0002 | t0015 | g0099 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03579 | hp1 | a0001 | c0006 | t0001 | g0047 | AFR | MSL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03579 | hp2 | a0001 | c0030 | t0004 | g0041 | AFR | MSL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03669 | hp1 | a0001 | c0002 | t0016 | g0076 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03669 | hp2 | a0001 | c0001 | t0004 | g0263 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03688 | hp1 | a0001 | c0002 | t0016 | g0114 | SAS | STU | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03688 | hp2 | a0002 | c0003 | t0002 | g0180 | SAS | STU | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03710 | hp1 | a0002 | c0003 | t0002 | g0163 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03710 | hp2 | a0011 | c0017 | t0003 | g0067 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03831 | hp1 | a0001 | c0001 | t0001 | g0244 | SAS | BEB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03831 | hp2 | a0001 | c0001 | t0001 | g0259 | SAS | BEB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03834 | hp1 | a0001 | c0016 | t0011 | g0096 | SAS | BEB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03834 | hp2 | a0001 | c0001 | t0001 | g0269 | SAS | BEB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03942 | hp1 | a0001 | c0002 | t0031 | g0081 | SAS | BEB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03942 | hp2 | a0002 | c0003 | t0002 | g0176 | SAS | BEB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG04115 | hp1 | a0002 | c0003 | t0002 | g0104 | SAS | STU | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG04115 | hp2 | a0001 | c0002 | t0015 | g0117 | SAS | STU | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG04184 | hp1 | a0001 | c0002 | t0007 | g0128 | SAS | BEB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG04184 | hp2 | a0002 | c0003 | t0002 | g0142 | SAS | BEB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18522 | hp1 | a0001 | c0001 | t0001 | g0279 | AFR | YRI | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18522 | hp2 | a0001 | c0002 | t0016 | g0116 | AFR | YRI | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18612 | hp1 | a0001 | c0002 | t0003 | g0084 | EAS | CHB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18612 | hp2 | a0001 | c0001 | t0001 | g0213 | EAS | CHB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18747 | hp1 | a0001 | c0002 | t0007 | g0052 | EAS | CHB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18747 | hp2 | a0002 | c0003 | t0002 | g0184 | EAS | CHB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18906 | hp1 | a0001 | c0005 | t0034 | g0134 | AFR | YRI | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18906 | hp2 | a0001 | c0001 | t0004 | g0187 | AFR | YRI | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18943 | hp1 | a0001 | c0002 | t0005 | g0091 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18943 | hp2 | a0001 | c0001 | t0001 | g0211 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18946 | hp1 | a0001 | c0001 | t0001 | g0204 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18946 | hp2 | a0001 | c0002 | t0007 | g0080 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18947 | hp1 | a0001 | c0002 | t0001 | g0120 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18947 | hp2 | a0001 | c0001 | t0001 | g0229 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18948 | hp1 | a0001 | c0002 | t0026 | g0073 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18948 | hp2 | a0001 | c0004 | t0010 | g0002 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18953 | hp1 | a0001 | c0002 | t0012 | g0130 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18953 | hp2 | a0001 | c0001 | t0001 | g0227 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18959 | hp1 | a0001 | c0001 | t0001 | g0205 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18959 | hp2 | a0001 | c0002 | t0003 | g0062 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18960 | hp1 | a0001 | c0004 | t0010 | g0033 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18960 | hp2 | a0001 | c0002 | t0011 | g0069 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18964 | hp1 | a0001 | c0001 | t0001 | g0208 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18964 | hp2 | a0001 | c0004 | t0010 | g0037 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18968 | hp1 | a0001 | c0004 | t0001 | g0032 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18968 | hp2 | a0001 | c0002 | t0005 | g0093 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18970 | hp1 | a0001 | c0001 | t0001 | g0231 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18970 | hp2 | a0001 | c0004 | t0001 | g0035 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18971 | hp1 | a0001 | c0002 | t0001 | g0092 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18971 | hp2 | a0001 | c0001 | t0001 | g0214 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18980 | hp1 | a0001 | c0011 | t0009 | g0191 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18980 | hp2 | a0001 | c0002 | t0005 | g0074 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18985 | hp1 | a0001 | c0001 | t0001 | g0236 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18985 | hp2 | a0001 | c0002 | t0005 | g0127 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18986 | hp1 | a0001 | c0002 | t0017 | g0100 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18986 | hp2 | a0001 | c0001 | t0001 | g0223 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18988 | hp1 | a0003 | c0008 | t0001 | g0216 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18988 | hp2 | a0001 | c0002 | t0008 | g0066 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18992 | hp1 | a0001 | c0002 | t0008 | g0095 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18992 | hp2 | a0001 | c0001 | t0001 | g0257 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18993 | hp1 | a0001 | c0002 | t0011 | g0098 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18993 | hp2 | a0001 | c0001 | t0001 | g0222 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18994 | hp1 | a0003 | c0008 | t0001 | g0203 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18994 | hp2 | a0001 | c0004 | t0001 | g0034 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18995 | hp1 | a0001 | c0002 | t0001 | g0070 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18995 | hp2 | a0001 | c0004 | t0001 | g0019 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18998 | hp1 | a0001 | c0002 | t0005 | g0065 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18998 | hp2 | a0001 | c0002 | t0008 | g0061 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19003 | hp1 | a0001 | c0001 | t0001 | g0207 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19003 | hp2 | a0001 | c0002 | t0005 | g0051 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19007 | hp1 | a0001 | c0001 | t0001 | g0232 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19007 | hp2 | a0001 | c0002 | t0005 | g0094 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19009 | hp1 | a0001 | c0004 | t0001 | g0036 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19009 | hp2 | a0001 | c0001 | t0001 | g0230 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19010 | hp1 | a0001 | c0002 | t0007 | g0072 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19010 | hp2 | a0001 | c0004 | t0001 | g0021 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19012 | hp1 | a0001 | c0001 | t0001 | g0234 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19012 | hp2 | a0001 | c0002 | t0027 | g0088 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19030 | hp1 | a0001 | c0004 | t0001 | g0006 | AFR | LWK | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19030 | hp2 | a0001 | c0001 | t0004 | g0196 | AFR | LWK | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19043 | hp1 | a0001 | c0001 | t0001 | g0289 | AFR | LWK | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19043 | hp2 | a0001 | c0001 | t0001 | g0273 | AFR | LWK | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19054 | hp1 | a0001 | c0004 | t0001 | g0027 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19054 | hp2 | a0001 | c0002 | t0018 | g0059 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19057 | hp1 | a0001 | c0002 | t0001 | g0020 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19057 | hp2 | a0001 | c0002 | t0001 | g0097 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19060 | hp1 | a0001 | c0002 | t0017 | g0090 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19060 | hp2 | a0001 | c0004 | t0010 | g0030 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19065 | hp1 | a0001 | c0011 | t0009 | g0190 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19065 | hp2 | a0003 | c0008 | t0001 | g0220 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19077 | hp1 | a0001 | c0001 | t0022 | g0243 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19077 | hp2 | a0001 | c0004 | t0001 | g0031 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19079 | hp1 | a0001 | c0002 | t0012 | g0068 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19079 | hp2 | a0001 | c0001 | t0001 | g0215 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19080 | hp1 | a0001 | c0018 | t0001 | g0123 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19080 | hp2 | a0001 | c0001 | t0001 | g0235 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19084 | hp1 | a0001 | c0001 | t0013 | g0233 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19084 | hp2 | a0001 | c0004 | t0020 | g0017 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19085 | hp1 | a0001 | c0001 | t0001 | g0224 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19085 | hp2 | a0001 | c0002 | t0021 | g0118 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19087 | hp1 | a0001 | c0002 | t0012 | g0077 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19087 | hp2 | a0001 | c0004 | t0010 | g0025 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19090 | hp1 | a0012 | c0015 | t0001 | g0024 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19090 | hp2 | a0001 | c0002 | t0012 | g0129 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19240 | hp1 | a0001 | c0001 | t0001 | g0288 | AFR | YRI | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19240 | hp2 | a0001 | c0007 | t0009 | g0194 | AFR | YRI | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA20129 | hp1 | a0001 | c0001 | t0001 | g0281 | AFR | ASW | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA20129 | hp2 | a0001 | c0004 | t0001 | g0014 | AFR | ASW | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA20805 | hp1 | a0001 | c0001 | t0001 | g0262 | EUR | TSI | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA20805 | hp2 | a0002 | c0003 | t0014 | g0138 | EUR | TSI | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA20905 | hp1 | a0001 | c0002 | t0003 | g0085 | SAS | GIH | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA20905 | hp2 | a0002 | c0003 | t0002 | g0147 | SAS | GIH | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02109 | hp1 | a0001 | c0028 | t0004 | g0197 | AFR | ACB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02109 | hp2 | a0001 | c0004 | t0001 | g0011 | AFR | ACB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02486 | hp1 | a0001 | c0006 | t0001 | g0045 | AFR | ACB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02486 | hp2 | a0001 | c0006 | t0001 | g0044 | AFR | ACB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02559 | hp1 | a0001 | c0002 | t0001 | g0115 | AFR | ACB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02559 | hp2 | a0001 | c0022 | t0001 | g0296 | AFR | ACB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03471 | hp1 | a0001 | c0004 | t0001 | g0004 | AFR | MSL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03471 | hp2 | a0001 | c0002 | t0002 | g0165 | AFR | MSL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG06807 | hp1 | a0002 | c0003 | t0014 | g0144 | AFR | USA | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG06807 | hp2 | a0001 | c0001 | t0001 | g0251 | AFR | USA | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18955 | hp1 | a0001 | c0002 | t0001 | g0018 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18955 | hp2 | a0001 | c0002 | t0028 | g0071 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA20300 | hp1 | a0002 | c0003 | t0002 | g0177 | AFR | USA | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA20300 | hp2 | a0001 | c0001 | t0001 | g0290 | AFR | USA | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
homoSapiens | chm13v2 | a0002 | c0003 | t0033 | g0161 | REF | REF | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
homoSapiens | grch38p0 | a0001 | c0001 | t0001 | g0292 | REF | REF | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr22:41117468 | A | G | 1 | a0006 | 1 | HG01069.hp1 | missense_variant | MODERATE | c.376A>G | p.Met126Val | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/31 | 789/8779 | 376/7245 | 126/2414 | chr22 | 41117468 | |||
chr22:41117723 | G | A | 1 | a0007 | 1 | HG01175.hp2 | missense_variant | MODERATE | c.631G>A | p.Gly211Ser | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/31 | 1044/8779 | 631/7245 | 211/2414 | chr22 | 41117723 | |||
chr22:41131624 | A | G | 1 | a0003 | 3 | NA18988.hp1 NA18994.hp1 NA19065.hp2 |
missense_variant | MODERATE | c.1519A>G | p.Ser507Gly | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/31 | 1932/8779 | 1519/7245 | 507/2414 | chr22 | 41131624 | |||
chr22:41152004 | A | G | 4 | a0002 a0004 a0007 others(1): Show |
49 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(46): Show |
missense_variant | MODERATE | c.2989A>G | p.Ile997Val | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 15/31 | 3402/8779 | 2989/7245 | 997/2414 | chr22 | 41152004 | |||
chr22:41176858 | G | C | 1 | a0010 | 1 | HG03139.hp1 | missense_variant | MODERATE | c.5147G>C | p.Ser1716Thr | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 5560/8779 | 5147/7245 | 1716/2414 | chr22 | 41176858 | |||
chr22:41177334 | C | T | 2 | a0004 a0012 |
2 | HG00597.hp1 NA19090.hp1 |
missense_variant | MODERATE | c.5623C>T | p.Pro1875Ser | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 6036/8779 | 5623/7245 | 1875/2414 | chr22 | 41177334 | |||
chr22:41177380 | C | G | 1 | a0009 | 1 | HG02818.hp1 | missense_variant | MODERATE | c.5669C>G | p.Thr1890Ser | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 6082/8779 | 5669/7245 | 1890/2414 | chr22 | 41177380 | |||
chr22:41177839 | C | A | 1 | a0011 | 1 | HG03710.hp2 | missense_variant | MODERATE | c.6128C>A | p.Pro2043Gln | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 6541/8779 | 6128/7245 | 2043/2414 | chr22 | 41177839 | |||
chr22:41178055 | C | T | 1 | a0008 | 1 | HG01981.hp1 | missense_variant | MODERATE | c.6344C>T | p.Pro2115Leu | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 6757/8779 | 6344/7245 | 2115/2414 | chr22 | 41178055 | |||
chr22:41178192 | A | G | 1 | a0005 | 1 | HG00609.hp2 | missense_variant | MODERATE | c.6481A>G | p.Met2161Val | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 6894/8779 | 6481/7245 | 2161/2414 | chr22 | 41178192 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr22:41117770 | C | G | 1 | a0001c0011 | 2 | NA18980.hp1 NA19065.hp1 |
synonymous_variant | LOW | c.678C>G | p.Gly226Gly | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/31 | 1091/8779 | 678/7245 | 226/2414 | chr22 | 41117770 | |||
chr22:41127522 | C | T | 1 | a0001c0005 | 10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
synonymous_variant | LOW | c.942C>T | p.Gly314Gly | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/31 | 1355/8779 | 942/7245 | 314/2414 | chr22 | 41127522 | |||
chr22:41137716 | A | C | 1 | a0001c0030 | 1 | HG03579.hp2 | synonymous_variant | LOW | c.1686A>C | p.Pro562Pro | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 8/31 | 2099/8779 | 1686/7245 | 562/2414 | chr22 | 41137716 | |||
chr22:41141188 | T | C | 2 | a0001c0009 a0001c0010 |
4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
synonymous_variant | LOW | c.2019T>C | p.Pro673Pro | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/31 | 2432/8779 | 2019/7245 | 673/2414 | chr22 | 41141188 | |||
chr22:41147889 | G | T | 1 | a0002c0029 | 1 | HG01257.hp1 | synonymous_variant | LOW | c.2184G>T | p.Arg728Arg | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 12/31 | 2597/8779 | 2184/7245 | 728/2414 | chr22 | 41147889 | |||
chr22:41149787 | G | A | 1 | a0001c0013 | 1 | HG02615.hp2 | synonymous_variant | LOW | c.2406G>A | p.Pro802Pro | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 14/31 | 2819/8779 | 2406/7245 | 802/2414 | chr22 | 41149787 | |||
chr22:41149880 | G | A | 2 | a0001c0007 a0010c0014 |
4 | HG02258.hp2 HG03139.hp1 HG03209.hp1 others(1): Show |
synonymous_variant | LOW | c.2499G>A | p.Ser833Ser | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 14/31 | 2912/8779 | 2499/7245 | 833/2414 | chr22 | 41149880 | |||
chr22:41149949 | A | G | 1 | a0001c0028 | 1 | HG02109.hp1 | synonymous_variant | LOW | c.2568A>G | p.Ala856Ala | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 14/31 | 2981/8779 | 2568/7245 | 856/2414 | chr22 | 41149949 | |||
chr22:41152238 | C | G | 1 | a0001c0010 | 2 | HG02647.hp1 HG02723.hp1 |
synonymous_variant | LOW | c.3030C>G | p.Thr1010Thr | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/31 | 3443/8779 | 3030/7245 | 1010/2414 | chr22 | 41152238 | |||
chr22:41152313 | C | T | 1 | a0002c0027 | 1 | HG02735.hp1 | synonymous_variant | LOW | c.3105C>T | p.Thr1035Thr | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/31 | 3518/8779 | 3105/7245 | 1035/2414 | chr22 | 41152313 | |||
chr22:41155014 | A | G | 1 | a0001c0023 | 1 | HG03239.hp2 | synonymous_variant | LOW | c.3162A>G | p.Leu1054Leu | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 17/31 | 3575/8779 | 3162/7245 | 1054/2414 | chr22 | 41155014 | |||
chr22:41155035 | T | A | 21 | a0001c0002 a0001c0004 a0001c0005 others(18): Show |
192 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(189): Show |
synonymous_variant | LOW | c.3183T>A | p.Thr1061Thr | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 17/31 | 3596/8779 | 3183/7245 | 1061/2414 | chr22 | 41155035 | |||
chr22:41157255 | G | A | 3 | a0001c0004 a0001c0013 a0012c0015 |
38 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(35): Show |
synonymous_variant | LOW | c.3348G>A | p.Gln1116Gln | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 18/31 | 3761/8779 | 3348/7245 | 1116/2414 | chr22 | 41157255 | |||
chr22:41157333 | C | T | 1 | a0001c0006 | 7 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(4): Show |
synonymous_variant | LOW | c.3426C>T | p.Cys1142Cys | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 18/31 | 3839/8779 | 3426/7245 | 1142/2414 | chr22 | 41157333 | |||
chr22:41170430 | A | C | 1 | a0001c0011 | 2 | NA18980.hp1 NA19065.hp1 |
synonymous_variant | LOW | c.4311A>C | p.Ala1437Ala | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/31 | 4724/8779 | 4311/7245 | 1437/2414 | chr22 | 41170430 | |||
chr22:41172549 | G | A | 1 | a0001c0016 | 1 | HG03834.hp1 | synonymous_variant | LOW | c.4503G>A | p.Leu1501Leu | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 28/31 | 4916/8779 | 4503/7245 | 1501/2414 | chr22 | 41172549 | |||
chr22:41172645 | C | G | 1 | a0009c0020 | 1 | HG02818.hp1 | synonymous_variant | LOW | c.4599C>G | p.Thr1533Thr | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 28/31 | 5012/8779 | 4599/7245 | 1533/2414 | chr22 | 41172645 | |||
chr22:41176982 | C | T | 1 | a0009c0020 | 1 | HG02818.hp1 | synonymous_variant | LOW | c.5271C>T | p.Ser1757Ser | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 5684/8779 | 5271/7245 | 1757/2414 | chr22 | 41176982 | |||
chr22:41177936 | C | T | 1 | a0001c0022 | 1 | HG02559.hp2 | synonymous_variant | LOW | c.6225C>T | p.His2075His | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 6638/8779 | 6225/7245 | 2075/2414 | chr22 | 41177936 | |||
chr22:41178083 | C | T | 2 | a0001c0007 a0010c0014 |
4 | HG02258.hp2 HG03139.hp1 HG03209.hp1 others(1): Show |
synonymous_variant | LOW | c.6372C>T | p.Val2124Val | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 6785/8779 | 6372/7245 | 2124/2414 | chr22 | 41178083 | |||
chr22:41178125 | G | A | 1 | a0001c0021 | 1 | HG02165.hp2 | synonymous_variant | LOW | c.6414G>A | p.Ala2138Ala | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 6827/8779 | 6414/7245 | 2138/2414 | chr22 | 41178125 | |||
chr22:41178662 | G | A | 1 | a0001c0018 | 1 | NA19080.hp1 | synonymous_variant | LOW | c.6951G>A | p.Arg2317Arg | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 7364/8779 | 6951/7245 | 2317/2414 | chr22 | 41178662 | |||
chr22:41178680 | C | T | 1 | a0002c0024 | 1 | HG01943.hp1 | synonymous_variant | LOW | c.6969C>T | p.Pro2323Pro | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 7382/8779 | 6969/7245 | 2323/2414 | chr22 | 41178680 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr22:41092632 | G | A | 1 | a0001c0004t0020 | 1 | NA19084.hp2 | 5_prime_UTR_variant | MODIFIER | c.-373G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/31 | 373 | chr22 | 41092632 | ||||||
chr22:41092772 | C | T | 1 | a0001c0001t0035 | 1 | HG02698.hp1 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-233C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/31 | chr22 | 41092772 | |||||||
chr22:41092856 | G | A | 1 | a0001c0002t0021 | 1 | NA19085.hp2 | 5_prime_UTR_variant | MODIFIER | c.-149G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/31 | 149 | chr22 | 41092856 | ||||||
chr22:41092872 | A | G | 1 | a0001c0004t0010 | 5 | NA18948.hp2 NA18960.hp1 NA18964.hp2 others(2): Show |
5_prime_UTR_variant | MODIFIER | c.-133A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/31 | 133 | chr22 | 41092872 | ||||||
chr22:41092910 | G | T | 1 | a0001c0005t0034 | 1 | NA18906.hp1 | 5_prime_UTR_variant | MODIFIER | c.-95G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/31 | 95 | chr22 | 41092910 | ||||||
chr22:41178965 | TGTA | T | 11 | a0001c0002t0002 a0001c0002t0019 a0002c0003t0002 others(8): Show |
58 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(55): Show |
3_prime_UTR_variant | MODIFIER | c.*13_*15delGTA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 13 | INFO_REALIGN_3_PRIME | chr22 | 41178965 | |||||
chr22:41179093 | C | T | 2 | a0001c0005t0006 a0001c0005t0034 |
10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
3_prime_UTR_variant | MODIFIER | c.*137C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 137 | chr22 | 41179093 | ||||||
chr22:41179094 | G | A | 1 | a0002c0003t0032 | 1 | HG01069.hp2 | 3_prime_UTR_variant | MODIFIER | c.*138G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 138 | chr22 | 41179094 | ||||||
chr22:41179143 | T | G | 1 | a0001c0002t0019 | 2 | HG02572.hp1 HG02647.hp2 |
3_prime_UTR_variant | MODIFIER | c.*187T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 187 | chr22 | 41179143 | ||||||
chr22:41179234 | G | C | 1 | a0001c0001t0022 | 1 | NA19077.hp1 | 3_prime_UTR_variant | MODIFIER | c.*278G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 278 | chr22 | 41179234 | ||||||
chr22:41179254 | A | G | 1 | a0001c0002t0031 | 1 | HG03942.hp1 | 3_prime_UTR_variant | MODIFIER | c.*298A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 298 | chr22 | 41179254 | ||||||
chr22:41179288 | A | AT | 1 | a0001c0001t0013 | 4 | HG01884.hp2 HG02258.hp1 HG02818.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*340dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 341 | INFO_REALIGN_3_PRIME | chr22 | 41179288 | |||||
chr22:41179533 | T | TA | 17 | a0001c0001t0004 a0001c0002t0002 a0001c0002t0019 others(14): Show |
71 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(68): Show |
3_prime_UTR_variant | MODIFIER | c.*592dupA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 593 | INFO_REALIGN_3_PRIME | chr22 | 41179533 | |||||
chr22:41179533 | TA | T | 4 | a0001c0002t0030 a0001c0007t0009 a0001c0011t0009 others(1): Show |
6 | HG02293.hp2 HG03139.hp1 HG03209.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*592delA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 592 | INFO_REALIGN_3_PRIME | chr22 | 41179533 | |||||
chr22:41179876 | C | CCACACAC others(9): Show |
1 | a0001c0004t0001 | 1 | HG02145.hp1 | 3_prime_UTR_variant | MODIFIER | c.*923_*924insACACAC others(10): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 924 | INFO_REALIGN_3_PRIME | chr22 | 41179876 | |||||
chr22:41179876 | CCACTCA | C | 6 | a0001c0002t0008 a0001c0002t0015 a0001c0002t0016 others(3): Show |
9 | HG00639.hp2 HG02056.hp1 HG03239.hp1 others(6): Show |
3_prime_UTR_variant | MODIFIER | c.*924_*929delTCACAC | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 924 | INFO_REALIGN_3_PRIME | chr22 | 41179876 | |||||
chr22:41179876 | CCACTCAC others(1): Show |
C | 11 | a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 others(8): Show |
30 | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(27): Show |
3_prime_UTR_variant | MODIFIER | c.*924_*931delTCACAC others(2): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 924 | INFO_REALIGN_3_PRIME | chr22 | 41179876 | |||||
chr22:41179877 | CACTCA | C | 3 | a0001c0002t0008 a0001c0002t0018 a0001c0002t0021 |
4 | HG00323.hp2 HG01516.hp1 NA18988.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*922_*926delACTCA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 922 | chr22 | 41179877 | ||||||
chr22:41179877 | CACTCACA | C | 5 | a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 others(2): Show |
8 | HG02523.hp1 HG03942.hp1 HG04184.hp1 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*922_*928delACTCAC others(1): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 922 | chr22 | 41179877 | ||||||
chr22:41179877 | CACTCACA others(2): Show |
C | 4 | a0001c0002t0011 a0001c0002t0025 a0001c0002t0026 others(1): Show |
6 | HG01257.hp2 HG02083.hp1 HG03834.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*922_*930delACTCAC others(3): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 922 | chr22 | 41179877 | ||||||
chr22:41179877 | CACTCACA others(10): Show |
C | 1 | a0001c0002t0024 | 1 | HG03017.hp1 | 3_prime_UTR_variant | MODIFIER | c.*922_*938delACTCAC others(11): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 922 | chr22 | 41179877 | ||||||
chr22:41179878 | A | C | 1 | a0001c0018t0001 | 1 | NA19080.hp1 | 3_prime_UTR_variant | MODIFIER | c.*922A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 922 | chr22 | 41179878 | ||||||
chr22:41179880 | T | A | 1 | a0001c0004t0001 | 1 | HG02145.hp1 | 3_prime_UTR_variant | MODIFIER | c.*924T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 924 | chr22 | 41179880 | ||||||
chr22:41179880 | T | C | 1 | a0001c0018t0001 | 1 | NA19080.hp1 | 3_prime_UTR_variant | MODIFIER | c.*924T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 924 | chr22 | 41179880 | ||||||
chr22:41179880 | T | TCA | 7 | a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(4): Show |
19 | HG00673.hp2 HG01069.hp1 HG01081.hp1 others(16): Show |
3_prime_UTR_variant | MODIFIER | c.*966_*967dupAC | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 968 | INFO_REALIGN_3_PRIME | chr22 | 41179880 | |||||
chr22:41179880 | T | TCACA | 3 | a0001c0001t0001 a0001c0004t0001 a0001c0007t0009 |
3 | HG03471.hp1 NA19240.hp2 NA20129.hp1 |
3_prime_UTR_variant | MODIFIER | c.*964_*967dupACAC | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 968 | INFO_REALIGN_3_PRIME | chr22 | 41179880 | |||||
chr22:41179880 | TCA | T | 9 | a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 others(6): Show |
17 | HG00280.hp1 HG00738.hp2 HG01884.hp2 others(14): Show |
3_prime_UTR_variant | MODIFIER | c.*966_*967delAC | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 966 | INFO_REALIGN_3_PRIME | chr22 | 41179880 | |||||
chr22:41179880 | TCACA | T | 7 | a0001c0001t0001 a0001c0004t0001 a0001c0004t0010 others(4): Show |
16 | HG01891.hp2 HG02027.hp1 HG02145.hp2 others(13): Show |
3_prime_UTR_variant | MODIFIER | c.*964_*967delACAC | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 964 | INFO_REALIGN_3_PRIME | chr22 | 41179880 | |||||
chr22:41179880 | TCACACA | T | 5 | a0001c0001t0001 a0001c0001t0004 a0001c0002t0019 others(2): Show |
15 | HG00140.hp2 HG00733.hp1 HG01070.hp2 others(12): Show |
3_prime_UTR_variant | MODIFIER | c.*962_*967delACACAC | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 962 | INFO_REALIGN_3_PRIME | chr22 | 41179880 | |||||
chr22:41179880 | TCACACAC others(1): Show |
T | 3 | a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 |
7 | HG01496.hp1 HG02083.hp2 HG02572.hp2 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*960_*967delACACAC others(2): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 960 | INFO_REALIGN_3_PRIME | chr22 | 41179880 | |||||
chr22:41179880 | TCACACAC others(3): Show |
T | 9 | a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(6): Show |
22 | HG00099.hp1 HG00597.hp2 HG02148.hp2 others(19): Show |
3_prime_UTR_variant | MODIFIER | c.*958_*967delACACAC others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 958 | INFO_REALIGN_3_PRIME | chr22 | 41179880 | |||||
chr22:41179880 | TCACACAC others(5): Show |
T | 9 | a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 others(6): Show |
45 | HG00323.hp1 HG00408.hp1 HG00544.hp2 others(42): Show |
3_prime_UTR_variant | MODIFIER | c.*956_*967delACACAC others(6): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 956 | INFO_REALIGN_3_PRIME | chr22 | 41179880 | |||||
chr22:41179880 | TCACACAC others(7): Show |
T | 9 | a0001c0001t0001 a0001c0002t0002 a0001c0030t0004 others(6): Show |
47 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(44): Show |
3_prime_UTR_variant | MODIFIER | c.*954_*967delACACAC others(8): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 954 | INFO_REALIGN_3_PRIME | chr22 | 41179880 | |||||
chr22:41179880 | TCACACAC others(9): Show |
T | 1 | a0001c0006t0001 | 1 | HG03579.hp1 | 3_prime_UTR_variant | MODIFIER | c.*952_*967delACACAC others(10): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 952 | INFO_REALIGN_3_PRIME | chr22 | 41179880 | |||||
chr22:41179880 | TCACACAC others(11): Show |
T | 2 | a0001c0001t0001 a0001c0001t0022 |
4 | NA18946.hp1 NA18959.hp1 NA19077.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*950_*967delACACAC others(12): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 950 | INFO_REALIGN_3_PRIME | chr22 | 41179880 | |||||
chr22:41179880 | TCACACAC others(15): Show |
T | 1 | a0001c0001t0001 | 1 | HG01099.hp1 | 3_prime_UTR_variant | MODIFIER | c.*946_*967delACACAC others(16): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 946 | INFO_REALIGN_3_PRIME | chr22 | 41179880 | |||||
chr22:41179880 | TCACACAC others(17): Show |
T | 1 | a0002c0024t0002 | 1 | HG01943.hp1 | 3_prime_UTR_variant | MODIFIER | c.*944_*967delACACAC others(18): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 944 | INFO_REALIGN_3_PRIME | chr22 | 41179880 | |||||
chr22:41179882 | A | C | 4 | a0001c0002t0001 a0001c0002t0008 a0001c0002t0016 others(1): Show |
5 | HG03669.hp1 NA18522.hp2 NA18947.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*926A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 926 | chr22 | 41179882 | ||||||
chr22:41179884 | A | C | 7 | a0001c0002t0008 a0001c0002t0015 a0001c0002t0016 others(4): Show |
17 | HG00323.hp2 HG00639.hp2 HG01516.hp1 others(14): Show |
3_prime_UTR_variant | MODIFIER | c.*928A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 928 | chr22 | 41179884 | ||||||
chr22:41179886 | A | C | 17 | a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 others(14): Show |
51 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(48): Show |
3_prime_UTR_variant | MODIFIER | c.*930A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 930 | chr22 | 41179886 | ||||||
chr22:41179888 | A | C | 18 | a0001c0002t0003 a0001c0002t0007 a0001c0002t0008 others(15): Show |
42 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(39): Show |
3_prime_UTR_variant | MODIFIER | c.*932A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 932 | chr22 | 41179888 | ||||||
chr22:41179890 | A | C | 11 | a0001c0002t0007 a0001c0002t0008 a0001c0002t0011 others(8): Show |
25 | HG00323.hp2 HG00639.hp2 HG01257.hp2 others(22): Show |
3_prime_UTR_variant | MODIFIER | c.*934A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 934 | chr22 | 41179890 | ||||||
chr22:41179892 | A | C | 8 | a0001c0002t0011 a0001c0002t0012 a0001c0002t0018 others(5): Show |
14 | HG00639.hp2 HG01257.hp2 HG01516.hp1 others(11): Show |
3_prime_UTR_variant | MODIFIER | c.*936A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 936 | chr22 | 41179892 | ||||||
chr22:41179894 | A | C | 3 | a0001c0002t0026 a0001c0002t0028 a0001c0002t0029 |
3 | HG00639.hp2 NA18948.hp1 NA18955.hp2 |
3_prime_UTR_variant | MODIFIER | c.*938A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 938 | chr22 | 41179894 | ||||||
chr22:41179896 | A | C | 1 | a0001c0002t0024 | 1 | HG03017.hp1 | 3_prime_UTR_variant | MODIFIER | c.*940A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 940 | chr22 | 41179896 | ||||||
chr22:41179898 | A | C | 1 | a0001c0002t0024 | 1 | HG03017.hp1 | 3_prime_UTR_variant | MODIFIER | c.*942A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 942 | chr22 | 41179898 | ||||||
chr22:41179900 | A | C | 1 | a0001c0002t0024 | 1 | HG03017.hp1 | 3_prime_UTR_variant | MODIFIER | c.*944A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 944 | chr22 | 41179900 | ||||||
chr22:41179902 | A | C | 1 | a0001c0002t0024 | 1 | HG03017.hp1 | 3_prime_UTR_variant | MODIFIER | c.*946A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 946 | chr22 | 41179902 | ||||||
chr22:41179902 | ACACACAC others(15): Show |
A | 2 | a0002c0003t0014 a0007c0012t0014 |
4 | HG01175.hp2 HG03491.hp2 HG06807.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*947_*968delCACACA others(16): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 947 | chr22 | 41179902 | ||||||
chr22:41179904 | A | C | 1 | a0001c0002t0024 | 1 | HG03017.hp1 | 3_prime_UTR_variant | MODIFIER | c.*948A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 948 | chr22 | 41179904 | ||||||
chr22:41179922 | A | G | 1 | a0001c0016t0011 | 1 | HG03834.hp1 | 3_prime_UTR_variant | MODIFIER | c.*966A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 966 | chr22 | 41179922 | ||||||
chr22:41179929 | A | G | 1 | a0001c0002t0027 | 1 | NA19012.hp2 | 3_prime_UTR_variant | MODIFIER | c.*973A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 973 | chr22 | 41179929 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr22:41093169 | A | T | 2 | a0001c0002t0003g0299 a0001c0002t0007g0300 |
2 | HG02129.hp2 HG02523.hp1 |
intron_variant | MODIFIER | c.94+71A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41093169 | |||||||
chr22:41093184 | C | T | 1 | a0001c0021t0001g0298 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.94+86C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41093184 | |||||||
chr22:41093186 | C | G | 1 | a0005c0019t0003g0297 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.94+88C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41093186 | |||||||
chr22:41093206 | C | A | 40 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0004t0001g0001 others(37): Show |
40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.94+108C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41093206 | |||||||
chr22:41093358 | G | C | 8 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(5): Show |
8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.94+260G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41093358 | |||||||
chr22:41093426 | A | G | 1 | a0001c0022t0001g0296 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.94+328A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41093426 | |||||||
chr22:41093483 | T | C | 292 | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 others(289): Show |
292 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(289): Show |
intron_variant | MODIFIER | c.94+385T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41093483 | |||||||
chr22:41093522 | C | A | 179 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0056 others(176): Show |
179 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(176): Show |
intron_variant | MODIFIER | c.94+424C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41093522 | |||||||
chr22:41093689 | T | G | 1 | a0009c0020t0001g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.94+591T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41093689 | |||||||
chr22:41093907 | A | G | 4 | a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 others(1): Show |
4 | HG01099.hp1 HG02965.hp2 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.94+809A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41093907 | |||||||
chr22:41093916 | G | A | 254 | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 others(251): Show |
254 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(251): Show |
intron_variant | MODIFIER | c.94+818G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41093916 | |||||||
chr22:41094477 | C | T | 1 | a0009c0020t0001g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.94+1379C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41094477 | |||||||
chr22:41094676 | G | C | 209 | a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 others(206): Show |
209 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(206): Show |
intron_variant | MODIFIER | c.94+1578G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41094676 | |||||||
chr22:41094805 | G | C | 2 | a0002c0003t0002g0049 a0002c0003t0002g0050 |
2 | HG03490.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.94+1707G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41094805 | |||||||
chr22:41094922 | T | C | 2 | a0001c0001t0035g0248 a0006c0031t0001g0247 |
2 | HG01069.hp1 HG02698.hp1 |
intron_variant | MODIFIER | c.94+1824T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41094922 | |||||||
chr22:41095027 | A | G | 4 | a0001c0009t0001g0199 a0001c0009t0001g0200 a0001c0010t0001g0201 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.94+1929A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41095027 | |||||||
chr22:41095029 | T | C | 1 | a0001c0001t0004g0187 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.94+1931T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41095029 | |||||||
chr22:41095112 | C | T | 5 | a0002c0003t0002g0181 a0002c0003t0002g0182 a0002c0003t0002g0183 others(2): Show |
5 | HG00597.hp1 HG00609.hp1 HG02027.hp2 others(2): Show |
intron_variant | MODIFIER | c.94+2014C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41095112 | |||||||
chr22:41095119 | T | A | 1 | a0001c0030t0004g0041 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.94+2021T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41095119 | |||||||
chr22:41095232 | A | AT | 15 | a0001c0002t0001g0120 a0001c0002t0003g0119 a0001c0002t0003g0122 others(12): Show |
15 | HG00408.hp2 HG00423.hp1 HG00558.hp1 others(12): Show |
intron_variant | MODIFIER | c.94+2159dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41095232 | ||||||
chr22:41095232 | A | ATT | 6 | a0001c0005t0006g0135 a0001c0005t0034g0134 a0002c0003t0002g0131 others(3): Show |
6 | HG00323.hp1 HG01069.hp2 HG01993.hp1 others(3): Show |
intron_variant | MODIFIER | c.94+2158_94+2159dup others(2): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41095232 | ||||||
chr22:41095232 | A | ATTT | 45 | a0001c0002t0002g0141 a0001c0002t0002g0164 a0001c0002t0002g0165 others(42): Show |
45 | HG00099.hp2 HG00280.hp2 HG00597.hp1 others(42): Show |
intron_variant | MODIFIER | c.94+2157_94+2159dup others(3): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41095232 | ||||||
chr22:41095232 | A | ATTTT | 7 | a0001c0004t0001g0040 a0001c0006t0001g0048 a0002c0003t0002g0176 others(4): Show |
7 | HG00423.hp2 HG02735.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.94+2156_94+2159dup others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41095232 | ||||||
chr22:41095232 | AT | A | 128 | a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 others(125): Show |
128 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(125): Show |
intron_variant | MODIFIER | c.94+2159delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41095232 | ||||||
chr22:41095232 | ATT | A | 10 | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 others(7): Show |
10 | HG01943.hp2 HG02735.hp2 HG02818.hp1 others(7): Show |
intron_variant | MODIFIER | c.94+2158_94+2159del others(2): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41095232 | ||||||
chr22:41095272 | T | C | 209 | a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 others(206): Show |
209 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(206): Show |
intron_variant | MODIFIER | c.94+2174T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41095272 | |||||||
chr22:41095548 | A | AT | 11 | a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 others(8): Show |
11 | HG02109.hp1 HG02559.hp1 HG02818.hp1 others(8): Show |
intron_variant | MODIFIER | c.94+2462dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41095548 | ||||||
chr22:41095548 | AT | A | 8 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(5): Show |
8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.94+2462delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41095548 | ||||||
chr22:41095558 | T | C | 1 | a0001c0002t0023g0058 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.94+2460T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41095558 | |||||||
chr22:41095772 | A | T | 27 | a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 others(24): Show |
27 | HG00544.hp1 HG00597.hp2 HG01346.hp2 others(24): Show |
intron_variant | MODIFIER | c.94+2674A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41095772 | |||||||
chr22:41095798 | T | C | 292 | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 others(289): Show |
292 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(289): Show |
intron_variant | MODIFIER | c.94+2700T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41095798 | |||||||
chr22:41095945 | T | C | 1 | a0001c0022t0001g0296 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.94+2847T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41095945 | |||||||
chr22:41096165 | A | C | 4 | a0001c0009t0001g0199 a0001c0009t0001g0200 a0001c0010t0001g0201 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.94+3067A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41096165 | |||||||
chr22:41096612 | C | CT | 22 | a0001c0002t0003g0055 a0001c0002t0005g0105 a0001c0002t0012g0129 others(19): Show |
22 | HG00323.hp1 HG00597.hp1 HG00733.hp2 others(19): Show |
intron_variant | MODIFIER | c.94+3537dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41096612 | ||||||
chr22:41096612 | CT | C | 90 | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 others(87): Show |
90 | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(87): Show |
intron_variant | MODIFIER | c.94+3537delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41096612 | ||||||
chr22:41096612 | CTT | C | 10 | a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0006t0001g0042 others(7): Show |
10 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(7): Show |
intron_variant | MODIFIER | c.94+3536_94+3537del others(2): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41096612 | ||||||
chr22:41096639 | A | G | 3 | a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 |
3 | HG02965.hp2 HG02976.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.94+3541A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41096639 | |||||||
chr22:41096649 | G | A | 184 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0056 others(181): Show |
184 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(181): Show |
intron_variant | MODIFIER | c.94+3551G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41096649 | |||||||
chr22:41096654 | C | T | 1 | a0001c0002t0016g0114 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.94+3556C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41096654 | |||||||
chr22:41096705 | A | G | 1 | a0001c0002t0015g0054 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.94+3607A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41096705 | |||||||
chr22:41096806 | A | G | 1 | a0001c0004t0001g0016 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.94+3708A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41096806 | |||||||
chr22:41096866 | G | A | 2 | a0001c0002t0005g0065 a0001c0002t0008g0066 |
2 | NA18988.hp2 NA18998.hp1 |
intron_variant | MODIFIER | c.94+3768G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41096866 | |||||||
chr22:41096899 | G | A | 6 | a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 others(3): Show |
6 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.94+3801G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41096899 | |||||||
chr22:41096914 | C | G | 3 | a0001c0006t0001g0045 a0001c0006t0001g0046 a0001c0006t0001g0047 |
3 | HG02486.hp1 HG02630.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.94+3816C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41096914 | |||||||
chr22:41097164 | T | A | 1 | a0001c0023t0001g0250 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.94+4066T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41097164 | |||||||
chr22:41097272 | C | T | 40 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0004t0001g0001 others(37): Show |
40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.94+4174C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41097272 | |||||||
chr22:41097372 | A | T | 1 | a0002c0003t0002g0171 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.94+4274A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41097372 | |||||||
chr22:41097440 | CTTTA | C | 40 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0004t0001g0001 others(37): Show |
40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.94+4347_94+4350del others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41097440 | ||||||
chr22:41097470 | C | T | 184 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0056 others(181): Show |
184 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(181): Show |
intron_variant | MODIFIER | c.94+4372C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41097470 | |||||||
chr22:41097793 | C | CT | 7 | a0001c0002t0007g0128 a0001c0009t0001g0199 a0001c0009t0001g0200 others(4): Show |
7 | HG00280.hp2 HG01109.hp2 HG02647.hp1 others(4): Show |
intron_variant | MODIFIER | c.94+4705dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41097793 | ||||||
chr22:41097897 | T | C | 1 | a0001c0001t0001g0252 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.94+4799T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41097897 | |||||||
chr22:41097984 | G | A | 71 | a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0070 others(68): Show |
71 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(68): Show |
intron_variant | MODIFIER | c.94+4886G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41097984 | |||||||
chr22:41097998 | A | AT | 13 | a0001c0001t0001g0251 a0001c0001t0001g0278 a0001c0001t0001g0279 others(10): Show |
13 | HG00639.hp1 HG01884.hp2 HG01891.hp1 others(10): Show |
intron_variant | MODIFIER | c.94+4914dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41097998 | ||||||
chr22:41097998 | A | T | 1 | a0001c0002t0005g0127 | 1 | NA18985.hp2 | intron_variant | MODIFIER | c.94+4900A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41097998 | |||||||
chr22:41097998 | AT | A | 37 | a0001c0001t0001g0249 a0001c0001t0001g0253 a0001c0001t0001g0254 others(34): Show |
37 | HG00140.hp2 HG00280.hp1 HG00609.hp1 others(34): Show |
intron_variant | MODIFIER | c.94+4914delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41097998 | ||||||
chr22:41098040 | G | A | 1 | a0002c0003t0002g0137 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.94+4942G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41098040 | |||||||
chr22:41098093 | C | T | 10 | a0001c0005t0006g0106 a0001c0005t0006g0107 a0001c0005t0006g0108 others(7): Show |
10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.94+4995C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41098093 | |||||||
chr22:41098161 | A | G | 1 | a0001c0001t0001g0289 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.94+5063A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41098161 | |||||||
chr22:41098182 | C | T | 8 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(5): Show |
8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.94+5084C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41098182 | |||||||
chr22:41098240 | A | G | 8 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(5): Show |
8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.94+5142A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41098240 | |||||||
chr22:41098250 | C | T | 1 | a0001c0001t0001g0206 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.94+5152C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41098250 | |||||||
chr22:41098377 | G | A | 9 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(6): Show |
9 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.94+5279G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41098377 | |||||||
chr22:41098425 | G | A | 1 | a0002c0003t0002g0142 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.94+5327G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41098425 | |||||||
chr22:41098434 | C | T | 1 | a0002c0003t0002g0169 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.94+5336C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41098434 | |||||||
chr22:41098464 | C | T | 129 | a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0070 others(126): Show |
129 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(126): Show |
intron_variant | MODIFIER | c.94+5366C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41098464 | |||||||
chr22:41098594 | A | G | 8 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(5): Show |
8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.94+5496A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41098594 | |||||||
chr22:41098921 | G | A | 4 | a0002c0003t0014g0138 a0002c0003t0014g0144 a0002c0003t0014g0145 others(1): Show |
4 | HG01175.hp2 HG03491.hp2 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.94+5823G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41098921 | |||||||
chr22:41098990 | G | A | 4 | a0001c0009t0001g0199 a0001c0009t0001g0200 a0001c0010t0001g0201 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.94+5892G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41098990 | |||||||
chr22:41098993 | C | T | 1 | a0001c0005t0006g0135 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.94+5895C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41098993 | |||||||
chr22:41099142 | A | C | 2 | a0001c0001t0013g0283 a0001c0001t0013g0284 |
2 | HG01884.hp2 HG02258.hp1 |
intron_variant | MODIFIER | c.94+6044A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41099142 | |||||||
chr22:41099253 | A | G | 1 | a0001c0001t0001g0236 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.94+6155A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41099253 | |||||||
chr22:41099325 | G | A | 192 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0056 others(189): Show |
192 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(189): Show |
intron_variant | MODIFIER | c.94+6227G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41099325 | |||||||
chr22:41099506 | C | T | 3 | a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 |
3 | HG02965.hp2 HG02976.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.94+6408C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41099506 | |||||||
chr22:41099599 | A | G | 1 | a0001c0021t0001g0298 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.94+6501A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41099599 | |||||||
chr22:41099661 | T | C | 2 | a0001c0001t0001g0253 a0001c0001t0001g0254 |
2 | HG00140.hp2 HG03490.hp2 |
intron_variant | MODIFIER | c.94+6563T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41099661 | |||||||
chr22:41099672 | A | G | 8 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(5): Show |
8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.94+6574A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41099672 | |||||||
chr22:41099703 | T | A | 198 | a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 others(195): Show |
198 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(195): Show |
intron_variant | MODIFIER | c.94+6605T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41099703 | |||||||
chr22:41099869 | C | T | 40 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0004t0001g0001 others(37): Show |
40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.94+6771C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41099869 | |||||||
chr22:41100155 | G | A | 1 | a0002c0003t0002g0172 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.94+7057G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41100155 | |||||||
chr22:41100515 | C | T | 1 | a0001c0001t0001g0269 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.94+7417C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41100515 | |||||||
chr22:41100516 | G | A | 2 | a0001c0001t0013g0283 a0001c0001t0013g0284 |
2 | HG01884.hp2 HG02258.hp1 |
intron_variant | MODIFIER | c.94+7418G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41100516 | |||||||
chr22:41100584 | G | A | 1 | a0009c0020t0001g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.94+7486G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41100584 | |||||||
chr22:41100613 | T | C | 1 | a0009c0020t0001g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.94+7515T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41100613 | |||||||
chr22:41100640 | CTATT | C | 7 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(4): Show |
7 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.94+7546_94+7549del others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41100640 | ||||||
chr22:41100690 | G | T | 2 | a0002c0003t0002g0104 a0002c0003t0002g0180 |
2 | HG03688.hp2 HG04115.hp1 |
intron_variant | MODIFIER | c.94+7592G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41100690 | |||||||
chr22:41100796 | G | A | 49 | a0002c0003t0002g0049 a0002c0003t0002g0050 a0002c0003t0002g0104 others(46): Show |
49 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(46): Show |
intron_variant | MODIFIER | c.94+7698G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41100796 | |||||||
chr22:41100842 | A | G | 68 | a0001c0002t0001g0070 a0001c0002t0001g0075 a0001c0002t0001g0087 others(65): Show |
68 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(65): Show |
intron_variant | MODIFIER | c.94+7744A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41100842 | |||||||
chr22:41100911 | C | T | 6 | a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 others(3): Show |
6 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.94+7813C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41100911 | |||||||
chr22:41101080 | TTTC | T | 3 | a0001c0007t0009g0192 a0001c0007t0009g0194 a0010c0014t0009g0193 |
3 | HG03139.hp1 HG03209.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.94+7988_94+7990del others(3): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41101080 | ||||||
chr22:41101155 | G | T | 9 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(6): Show |
9 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.94+8057G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41101155 | |||||||
chr22:41101189 | C | T | 1 | a0001c0022t0001g0296 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.94+8091C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41101189 | |||||||
chr22:41101230 | A | G | 129 | a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0070 others(126): Show |
129 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(126): Show |
intron_variant | MODIFIER | c.94+8132A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41101230 | |||||||
chr22:41101273 | C | G | 2 | a0001c0001t0004g0196 a0001c0028t0004g0197 |
2 | HG02109.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.94+8175C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41101273 | |||||||
chr22:41101299 | T | A | 1 | a0001c0022t0001g0296 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.94+8201T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41101299 | |||||||
chr22:41101315 | C | T | 4 | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0235 others(1): Show |
4 | NA18946.hp1 NA18959.hp1 NA19077.hp1 others(1): Show |
intron_variant | MODIFIER | c.94+8217C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41101315 | |||||||
chr22:41101414 | C | CT | 16 | a0001c0002t0017g0100 a0001c0002t0030g0064 a0001c0006t0001g0042 others(13): Show |
16 | HG01109.hp2 HG01891.hp1 HG02257.hp2 others(13): Show |
intron_variant | MODIFIER | c.94+8331dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41101414 | ||||||
chr22:41101414 | CT | C | 40 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0004t0001g0001 others(37): Show |
40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.94+8331delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41101414 | ||||||
chr22:41101572 | C | T | 4 | a0001c0009t0001g0199 a0001c0009t0001g0200 a0001c0010t0001g0201 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.94+8474C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41101572 | |||||||
chr22:41101604 | G | T | 8 | a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0229 others(5): Show |
8 | NA18947.hp2 NA18964.hp1 NA18970.hp1 others(5): Show |
intron_variant | MODIFIER | c.94+8506G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41101604 | |||||||
chr22:41101781 | C | T | 129 | a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0070 others(126): Show |
129 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(126): Show |
intron_variant | MODIFIER | c.94+8683C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41101781 | |||||||
chr22:41101813 | G | A | 1 | a0011c0017t0003g0067 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.94+8715G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41101813 | |||||||
chr22:41102029 | C | CT | 56 | a0001c0002t0002g0141 a0001c0002t0002g0164 a0001c0002t0002g0165 others(53): Show |
56 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(53): Show |
intron_variant | MODIFIER | c.94+8948dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41102029 | ||||||
chr22:41102029 | CT | C | 21 | a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0270 others(18): Show |
21 | HG02109.hp1 HG02486.hp1 HG02630.hp2 others(18): Show |
intron_variant | MODIFIER | c.94+8948delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41102029 | ||||||
chr22:41102047 | A | G | 1 | a0001c0007t0009g0194 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.94+8949A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41102047 | |||||||
chr22:41102059 | A | T | 1 | a0002c0003t0002g0162 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.94+8961A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41102059 | |||||||
chr22:41102320 | C | T | 1 | a0001c0002t0024g0053 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.94+9222C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41102320 | |||||||
chr22:41102417 | C | T | 3 | a0001c0006t0001g0045 a0001c0006t0001g0046 a0001c0006t0001g0047 |
3 | HG02486.hp1 HG02630.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.94+9319C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41102417 | |||||||
chr22:41102423 | A | G | 1 | a0001c0001t0001g0228 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.94+9325A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41102423 | |||||||
chr22:41102583 | G | A | 1 | a0001c0030t0004g0041 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.94+9485G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41102583 | |||||||
chr22:41102623 | G | A | 72 | a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0070 others(69): Show |
72 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(69): Show |
intron_variant | MODIFIER | c.94+9525G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41102623 | |||||||
chr22:41103040 | G | A | 1 | a0001c0001t0001g0255 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.94+9942G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41103040 | |||||||
chr22:41103222 | G | A | 3 | a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0237 |
3 | HG00099.hp1 HG01433.hp1 HG02738.hp2 |
intron_variant | MODIFIER | c.94+10124G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41103222 | |||||||
chr22:41103261 | T | G | 8 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(5): Show |
8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.94+10163T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41103261 | |||||||
chr22:41103361 | T | C | 1 | a0002c0003t0002g0147 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.94+10263T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41103361 | |||||||
chr22:41103544 | T | C | 2 | a0001c0011t0009g0190 a0001c0011t0009g0191 |
2 | NA18980.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.94+10446T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41103544 | |||||||
chr22:41103805 | A | G | 6 | a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 others(3): Show |
6 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.94+10707A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41103805 | |||||||
chr22:41103818 | G | A | 2 | a0001c0001t0001g0249 a0001c0001t0001g0255 |
2 | HG01517.hp2 HG01943.hp2 |
intron_variant | MODIFIER | c.94+10720G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41103818 | |||||||
chr22:41103967 | T | TC | 129 | a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0070 others(126): Show |
129 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(126): Show |
intron_variant | MODIFIER | c.94+10871dupC | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41103967 | ||||||
chr22:41104104 | G | T | 2 | a0001c0002t0019g0101 a0001c0002t0019g0102 |
2 | HG02572.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.94+11006G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41104104 | |||||||
chr22:41104296 | G | GT | 6 | a0001c0002t0015g0099 a0001c0009t0001g0199 a0001c0009t0001g0200 others(3): Show |
6 | HG01109.hp2 HG02602.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.94+11209dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41104296 | ||||||
chr22:41104296 | G | T | 2 | a0001c0001t0001g0295 a0001c0002t0024g0053 |
2 | HG01433.hp2 HG03017.hp1 |
intron_variant | MODIFIER | c.94+11198G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41104296 | |||||||
chr22:41104570 | G | A | 1 | a0002c0003t0002g0148 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.94+11472G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41104570 | |||||||
chr22:41104582 | G | A | 1 | a0001c0005t0006g0135 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.94+11484G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41104582 | |||||||
chr22:41104693 | C | T | 1 | a0001c0001t0004g0187 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.94+11595C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41104693 | |||||||
chr22:41104762 | G | A | 1 | a0001c0002t0003g0119 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.94+11664G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41104762 | |||||||
chr22:41105081 | C | T | 1 | a0002c0003t0002g0137 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.94+11983C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41105081 | |||||||
chr22:41105095 | G | C | 1 | a0002c0003t0002g0137 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.94+11997G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41105095 | |||||||
chr22:41105198 | G | GA | 23 | a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 others(20): Show |
23 | HG00642.hp1 HG01106.hp1 HG01169.hp2 others(20): Show |
intron_variant | MODIFIER | c.95-11966dupA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41105198 | ||||||
chr22:41105198 | GA | G | 16 | a0001c0002t0002g0141 a0001c0002t0019g0101 a0001c0009t0001g0199 others(13): Show |
16 | HG00597.hp1 HG00642.hp2 HG01106.hp2 others(13): Show |
intron_variant | MODIFIER | c.95-11966delA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41105198 | ||||||
chr22:41105198 | GAA | G | 59 | a0001c0002t0001g0018 a0001c0002t0001g0075 a0001c0002t0001g0115 others(56): Show |
59 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(56): Show |
intron_variant | MODIFIER | c.95-11967_95-11966d others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41105198 | ||||||
chr22:41105198 | GAAA | G | 110 | a0001c0002t0001g0020 a0001c0002t0001g0056 a0001c0002t0001g0057 others(107): Show |
110 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(107): Show |
intron_variant | MODIFIER | c.95-11968_95-11966d others(5): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41105198 | ||||||
chr22:41105200 | A | G | 13 | a0001c0002t0002g0141 a0001c0002t0019g0101 a0002c0003t0002g0148 others(10): Show |
13 | HG00597.hp1 HG00642.hp2 HG01106.hp2 others(10): Show |
intron_variant | MODIFIER | c.95-11987A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41105200 | |||||||
chr22:41105201 | A | G | 44 | a0001c0002t0002g0164 a0001c0002t0002g0165 a0001c0002t0002g0166 others(41): Show |
44 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(41): Show |
intron_variant | MODIFIER | c.95-11986A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41105201 | |||||||
chr22:41105219 | A | G | 1 | a0001c0001t0001g0276 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.95-11968A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41105219 | |||||||
chr22:41105246 | T | C | 1 | a0001c0002t0016g0076 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.95-11941T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41105246 | |||||||
chr22:41105261 | G | A | 4 | a0001c0009t0001g0199 a0001c0009t0001g0200 a0001c0010t0001g0201 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.95-11926G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41105261 | |||||||
chr22:41105296 | A | C | 1 | a0001c0001t0001g0276 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.95-11891A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41105296 | |||||||
chr22:41105354 | C | CA | 186 | a0001c0001t0001g0244 a0001c0001t0004g0188 a0001c0001t0004g0189 others(183): Show |
186 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(183): Show |
intron_variant | MODIFIER | c.95-11820dupA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41105354 | ||||||
chr22:41105354 | C | CAA | 9 | a0001c0002t0012g0077 a0001c0004t0001g0003 a0001c0004t0001g0004 others(6): Show |
9 | HG02683.hp1 HG02723.hp2 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.95-11821_95-11820d others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41105354 | ||||||
chr22:41105380 | A | G | 1 | a0001c0002t0012g0077 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.95-11807A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41105380 | |||||||
chr22:41105393 | TTTTG | T | 40 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0004t0001g0001 others(37): Show |
40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.95-11782_95-11779d others(6): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41105393 | ||||||
chr22:41105496 | T | G | 1 | a0001c0011t0009g0190 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.95-11691T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41105496 | |||||||
chr22:41105649 | G | C | 139 | a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0070 others(136): Show |
139 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(136): Show |
intron_variant | MODIFIER | c.95-11538G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41105649 | |||||||
chr22:41105802 | A | G | 10 | a0001c0005t0006g0106 a0001c0005t0006g0107 a0001c0005t0006g0108 others(7): Show |
10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.95-11385A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41105802 | |||||||
chr22:41106174 | T | G | 2 | a0001c0002t0001g0120 a0001c0002t0005g0127 |
2 | NA18947.hp1 NA18985.hp2 |
intron_variant | MODIFIER | c.95-11013T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41106174 | |||||||
chr22:41106216 | A | G | 40 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0004t0001g0001 others(37): Show |
40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.95-10971A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41106216 | |||||||
chr22:41106341 | T | C | 1 | a0001c0002t0008g0060 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.95-10846T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41106341 | |||||||
chr22:41106493 | C | G | 1 | a0001c0002t0011g0098 | 1 | NA18993.hp1 | intron_variant | MODIFIER | c.95-10694C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41106493 | |||||||
chr22:41106551 | C | G | 13 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(10): Show |
13 | HG01109.hp2 HG01891.hp1 HG02257.hp2 others(10): Show |
intron_variant | MODIFIER | c.95-10636C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41106551 | |||||||
chr22:41106633 | T | C | 1 | a0001c0001t0001g0259 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.95-10554T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41106633 | |||||||
chr22:41106821 | T | G | 129 | a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0070 others(126): Show |
129 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(126): Show |
intron_variant | MODIFIER | c.95-10366T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41106821 | |||||||
chr22:41106918 | A | G | 72 | a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0070 others(69): Show |
72 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(69): Show |
intron_variant | MODIFIER | c.95-10269A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41106918 | |||||||
chr22:41106990 | T | C | 1 | a0002c0003t0002g0137 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.95-10197T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41106990 | |||||||
chr22:41107372 | A | G | 2 | a0001c0002t0003g0299 a0001c0002t0007g0300 |
2 | HG02129.hp2 HG02523.hp1 |
intron_variant | MODIFIER | c.95-9815A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41107372 | |||||||
chr22:41107422 | T | TA | 8 | a0001c0001t0001g0205 a0001c0001t0001g0211 a0001c0001t0001g0249 others(5): Show |
8 | HG00733.hp1 HG01517.hp2 HG01943.hp2 others(5): Show |
intron_variant | MODIFIER | c.95-9751dupA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41107422 | ||||||
chr22:41107422 | TA | T | 188 | a0001c0002t0001g0020 a0001c0002t0001g0056 a0001c0002t0001g0057 others(185): Show |
188 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(185): Show |
intron_variant | MODIFIER | c.95-9751delA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41107422 | ||||||
chr22:41107698 | G | A | 4 | a0001c0004t0001g0003 a0001c0004t0001g0004 a0001c0004t0001g0005 others(1): Show |
4 | HG02723.hp2 HG02896.hp1 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.95-9489G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41107698 | |||||||
chr22:41107730 | G | A | 1 | a0001c0001t0004g0188 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.95-9457G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41107730 | |||||||
chr22:41107769 | C | T | 1 | a0001c0002t0001g0115 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.95-9418C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41107769 | |||||||
chr22:41107793 | T | A | 5 | a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 others(2): Show |
5 | HG00558.hp2 NA18612.hp2 NA18943.hp2 others(2): Show |
intron_variant | MODIFIER | c.95-9394T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41107793 | |||||||
chr22:41107803 | C | T | 3 | a0002c0003t0002g0104 a0002c0003t0002g0160 a0002c0003t0002g0180 |
3 | HG01346.hp1 HG03688.hp2 HG04115.hp1 |
intron_variant | MODIFIER | c.95-9384C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41107803 | |||||||
chr22:41107904 | G | A | 5 | a0001c0002t0011g0069 a0001c0002t0011g0098 a0001c0002t0012g0129 others(2): Show |
5 | HG02083.hp1 NA18960.hp2 NA18993.hp1 others(2): Show |
intron_variant | MODIFIER | c.95-9283G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41107904 | |||||||
chr22:41107908 | TAGTC | T | 129 | a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0070 others(126): Show |
129 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(126): Show |
intron_variant | MODIFIER | c.95-9276_95-9273del others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41107908 | ||||||
chr22:41108006 | G | A | 1 | a0001c0002t0016g0116 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.95-9181G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41108006 | |||||||
chr22:41108043 | T | C | 40 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0004t0001g0001 others(37): Show |
40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.95-9144T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41108043 | |||||||
chr22:41108045 | C | G | 192 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0056 others(189): Show |
192 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(189): Show |
intron_variant | MODIFIER | c.95-9142C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41108045 | |||||||
chr22:41108087 | T | TC | 13 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(10): Show |
13 | HG01109.hp2 HG01891.hp1 HG02257.hp2 others(10): Show |
intron_variant | MODIFIER | c.95-9099dupC | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41108087 | ||||||
chr22:41108244 | C | CT | 21 | a0001c0001t0001g0215 a0001c0001t0001g0227 a0001c0001t0001g0234 others(18): Show |
21 | HG00408.hp2 HG01106.hp2 HG02056.hp1 others(18): Show |
intron_variant | MODIFIER | c.95-8921dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41108244 | ||||||
chr22:41108244 | CT | C | 23 | a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0002t0002g0141 others(20): Show |
23 | HG00738.hp1 HG01081.hp2 HG01257.hp1 others(20): Show |
intron_variant | MODIFIER | c.95-8921delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41108244 | ||||||
chr22:41108244 | CTTTT | C | 36 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0004t0001g0003 others(33): Show |
36 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(33): Show |
intron_variant | MODIFIER | c.95-8924_95-8921del others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41108244 | ||||||
chr22:41108244 | CTTTTTTT others(6): Show |
C | 1 | a0001c0001t0001g0286 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.95-8933_95-8921del others(13): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41108244 | ||||||
chr22:41108249 | T | TC | 8 | a0001c0005t0006g0106 a0001c0005t0006g0107 a0001c0005t0006g0108 others(5): Show |
8 | HG01891.hp2 HG02145.hp2 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.95-8938_95-8937ins others(1): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41108249 | |||||||
chr22:41108251 | T | C | 3 | a0001c0007t0009g0192 a0001c0007t0009g0194 a0010c0014t0009g0193 |
3 | HG03139.hp1 HG03209.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.95-8936T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41108251 | |||||||
chr22:41108287 | C | T | 1 | a0001c0022t0001g0296 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.95-8900C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41108287 | |||||||
chr22:41108420 | C | T | 40 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0004t0001g0001 others(37): Show |
40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.95-8767C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41108420 | |||||||
chr22:41108421 | G | A | 8 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(5): Show |
8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.95-8766G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41108421 | |||||||
chr22:41108456 | C | T | 1 | a0002c0024t0002g0159 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.95-8731C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41108456 | |||||||
chr22:41108488 | A | G | 1 | a0002c0003t0002g0158 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.95-8699A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41108488 | |||||||
chr22:41108590 | C | T | 2 | a0001c0001t0004g0196 a0001c0028t0004g0197 |
2 | HG02109.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.95-8597C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41108590 | |||||||
chr22:41109253 | C | CA | 110 | a0001c0001t0001g0287 a0001c0001t0022g0243 a0001c0002t0001g0018 others(107): Show |
110 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(107): Show |
intron_variant | MODIFIER | c.95-7919dupA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41109253 | ||||||
chr22:41109253 | C | CAA | 59 | a0001c0001t0004g0187 a0001c0002t0001g0115 a0001c0002t0002g0141 others(56): Show |
59 | HG00099.hp2 HG00323.hp1 HG00423.hp2 others(56): Show |
intron_variant | MODIFIER | c.95-7920_95-7919dup others(2): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41109253 | ||||||
chr22:41109253 | C | CAAA | 11 | a0001c0002t0001g0020 a0001c0002t0019g0101 a0001c0006t0001g0042 others(8): Show |
11 | HG00280.hp2 HG00642.hp2 HG01069.hp2 others(8): Show |
intron_variant | MODIFIER | c.95-7921_95-7919dup others(3): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41109253 | ||||||
chr22:41109268 | A | AAAC | 6 | a0002c0003t0002g0146 a0002c0003t0002g0150 a0002c0003t0002g0160 others(3): Show |
6 | HG00597.hp1 HG01099.hp2 HG01109.hp1 others(3): Show |
intron_variant | MODIFIER | c.95-7919_95-7918ins others(3): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41109268 | |||||||
chr22:41109269 | C | A | 9 | a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0005t0006g0106 others(6): Show |
9 | HG00597.hp1 HG01099.hp2 HG01109.hp1 others(6): Show |
intron_variant | MODIFIER | c.95-7918C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41109269 | |||||||
chr22:41109273 | A | C | 1 | a0001c0022t0001g0296 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.95-7914A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41109273 | |||||||
chr22:41109318 | C | T | 2 | a0001c0011t0009g0190 a0001c0011t0009g0191 |
2 | NA18980.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.95-7869C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41109318 | |||||||
chr22:41109489 | A | C | 1 | a0001c0016t0011g0096 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.95-7698A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41109489 | |||||||
chr22:41109511 | A | G | 1 | a0001c0001t0004g0187 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.95-7676A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41109511 | |||||||
chr22:41109549 | T | C | 1 | a0001c0002t0030g0064 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.95-7638T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41109549 | |||||||
chr22:41109668 | C | T | 1 | a0001c0002t0005g0051 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.95-7519C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41109668 | |||||||
chr22:41109825 | A | G | 1 | a0001c0006t0001g0048 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.95-7362A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41109825 | |||||||
chr22:41109830 | C | G | 10 | a0001c0005t0006g0106 a0001c0005t0006g0107 a0001c0005t0006g0108 others(7): Show |
10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.95-7357C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41109830 | |||||||
chr22:41109851 | T | C | 1 | a0002c0003t0002g0160 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.95-7336T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41109851 | |||||||
chr22:41109970 | C | T | 2 | a0002c0003t0002g0181 a0004c0026t0002g0185 |
2 | HG00597.hp1 HG00609.hp1 |
intron_variant | MODIFIER | c.95-7217C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41109970 | |||||||
chr22:41110117 | G | GC | 74 | a0001c0001t0001g0252 a0001c0001t0001g0257 a0001c0001t0001g0271 others(71): Show |
74 | HG00323.hp2 HG00423.hp1 HG00544.hp1 others(71): Show |
intron_variant | MODIFIER | c.95-7059dupC | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110117 | ||||||
chr22:41110117 | G | GCC | 60 | a0001c0001t0004g0189 a0001c0001t0004g0195 a0001c0002t0001g0020 others(57): Show |
60 | HG00099.hp2 HG00423.hp2 HG00597.hp2 others(57): Show |
intron_variant | MODIFIER | c.95-7060_95-7059dup others(2): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110117 | ||||||
chr22:41110117 | G | GCCC | 35 | a0001c0001t0004g0196 a0001c0002t0001g0120 a0001c0002t0002g0164 others(32): Show |
35 | HG00140.hp1 HG00735.hp2 HG00738.hp1 others(32): Show |
intron_variant | MODIFIER | c.95-7061_95-7059dup others(3): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110117 | ||||||
chr22:41110117 | GC | G | 55 | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 others(52): Show |
55 | HG00099.hp1 HG00408.hp1 HG00558.hp2 others(52): Show |
intron_variant | MODIFIER | c.95-7059delC | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110117 | ||||||
chr22:41110282 | A | AT | 25 | a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0223 others(22): Show |
25 | HG00408.hp1 HG00735.hp1 HG01433.hp2 others(22): Show |
intron_variant | MODIFIER | c.95-6867dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110282 | ||||||
chr22:41110282 | A | ATT | 7 | a0001c0001t0001g0252 a0001c0001t0001g0257 a0001c0001t0001g0262 others(4): Show |
7 | HG02572.hp2 HG02622.hp1 HG03225.hp2 others(4): Show |
intron_variant | MODIFIER | c.95-6868_95-6867dup others(2): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110282 | ||||||
chr22:41110282 | A | ATTTTTTT others(3): Show |
1 | a0001c0001t0001g0234 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.95-6876_95-6867dup others(10): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110282 | ||||||
chr22:41110282 | A | ATTTTTTT others(5): Show |
1 | a0001c0004t0001g0016 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.95-6878_95-6867dup others(12): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110282 | ||||||
chr22:41110282 | A | ATTTTTTT others(6): Show |
1 | a0001c0004t0001g0003 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.95-6879_95-6867dup others(13): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110282 | ||||||
chr22:41110282 | A | ATTTTTTT others(8): Show |
1 | a0001c0004t0001g0005 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.95-6881_95-6867dup others(15): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110282 | ||||||
chr22:41110282 | A | ATTTTTTT others(9): Show |
1 | a0001c0004t0001g0004 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.95-6882_95-6867dup others(16): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110282 | ||||||
chr22:41110282 | AT | A | 18 | a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0215 others(15): Show |
18 | HG00099.hp1 HG00642.hp1 HG01169.hp2 others(15): Show |
intron_variant | MODIFIER | c.95-6867delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110282 | ||||||
chr22:41110282 | ATT | A | 20 | a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0213 others(17): Show |
20 | HG01106.hp1 HG01109.hp2 HG01167.hp1 others(17): Show |
intron_variant | MODIFIER | c.95-6868_95-6867del others(2): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110282 | ||||||
chr22:41110282 | ATTT | A | 15 | a0001c0001t0001g0204 a0001c0001t0001g0218 a0001c0001t0001g0219 others(12): Show |
15 | HG00558.hp2 HG01099.hp1 HG01109.hp1 others(12): Show |
intron_variant | MODIFIER | c.95-6869_95-6867del others(3): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110282 | ||||||
chr22:41110282 | ATTTT | A | 22 | a0001c0001t0001g0241 a0001c0001t0001g0288 a0001c0005t0006g0110 others(19): Show |
22 | HG00609.hp1 HG00642.hp2 HG00733.hp2 others(19): Show |
intron_variant | MODIFIER | c.95-6870_95-6867del others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110282 | ||||||
chr22:41110282 | ATTTTT | A | 39 | a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0002t0002g0141 others(36): Show |
39 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(36): Show |
intron_variant | MODIFIER | c.95-6871_95-6867del others(5): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110282 | ||||||
chr22:41110282 | ATTTTTT | A | 13 | a0001c0001t0001g0271 a0001c0002t0001g0115 a0001c0002t0002g0167 others(10): Show |
13 | HG00423.hp2 HG00738.hp1 HG01496.hp1 others(10): Show |
intron_variant | MODIFIER | c.95-6872_95-6867del others(6): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110282 | ||||||
chr22:41110282 | ATTTTTTT | A | 9 | a0001c0002t0015g0099 a0001c0002t0019g0101 a0001c0005t0006g0135 others(6): Show |
9 | HG02257.hp2 HG02486.hp1 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.95-6873_95-6867del others(7): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110282 | ||||||
chr22:41110282 | ATTTTTTT others(1): Show |
A | 16 | a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0087 others(13): Show |
16 | HG00408.hp2 HG00673.hp1 HG00673.hp2 others(13): Show |
intron_variant | MODIFIER | c.95-6874_95-6867del others(8): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110282 | ||||||
chr22:41110282 | ATTTTTTT others(2): Show |
A | 48 | a0001c0002t0001g0070 a0001c0002t0001g0075 a0001c0002t0001g0097 others(45): Show |
48 | HG00140.hp1 HG00423.hp1 HG00558.hp1 others(45): Show |
intron_variant | MODIFIER | c.95-6875_95-6867del others(9): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110282 | ||||||
chr22:41110282 | ATTTTTTT others(3): Show |
A | 6 | a0001c0002t0002g0103 a0001c0002t0008g0060 a0001c0002t0016g0116 others(3): Show |
6 | HG00323.hp2 HG00639.hp2 HG01993.hp2 others(3): Show |
intron_variant | MODIFIER | c.95-6876_95-6867del others(10): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110282 | ||||||
chr22:41110282 | ATTTTTTT others(15): Show |
A | 6 | a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 others(3): Show |
6 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.95-6888_95-6867del others(22): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110282 | ||||||
chr22:41110373 | A | G | 72 | a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0070 others(69): Show |
72 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(69): Show |
intron_variant | MODIFIER | c.95-6814A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41110373 | |||||||
chr22:41110428 | G | A | 1 | a0002c0003t0002g0156 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.95-6759G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41110428 | |||||||
chr22:41110650 | C | T | 1 | a0001c0004t0001g0010 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.95-6537C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41110650 | |||||||
chr22:41110686 | G | A | 3 | a0001c0001t0013g0277 a0001c0001t0013g0283 a0001c0001t0013g0284 |
3 | HG01884.hp2 HG02258.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.95-6501G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41110686 | |||||||
chr22:41110959 | CT | C | 99 | a0001c0001t0001g0204 a0001c0001t0001g0241 a0001c0002t0001g0056 others(96): Show |
99 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(96): Show |
intron_variant | MODIFIER | c.95-6211delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110959 | ||||||
chr22:41110971 | T | G | 1 | a0001c0002t0007g0080 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.95-6216T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41110971 | |||||||
chr22:41110976 | TA | T | 40 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0004t0001g0001 others(37): Show |
40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.95-6208delA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110976 | ||||||
chr22:41110977 | A | T | 7 | a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 others(4): Show |
7 | HG01099.hp1 HG01346.hp1 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.95-6210A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41110977 | |||||||
chr22:41111014 | G | A | 10 | a0001c0005t0006g0106 a0001c0005t0006g0107 a0001c0005t0006g0108 others(7): Show |
10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.95-6173G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41111014 | |||||||
chr22:41111039 | C | T | 1 | a0001c0005t0006g0112 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.95-6148C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41111039 | |||||||
chr22:41111089 | C | T | 1 | a0001c0002t0003g0125 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.95-6098C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41111089 | |||||||
chr22:41111102 | A | G | 3 | a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 |
3 | HG01346.hp2 HG02738.hp1 HG03831.hp1 |
intron_variant | MODIFIER | c.95-6085A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41111102 | |||||||
chr22:41111135 | T | A | 1 | a0001c0030t0004g0041 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.95-6052T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41111135 | |||||||
chr22:41111396 | A | G | 182 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0056 others(179): Show |
182 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(179): Show |
intron_variant | MODIFIER | c.95-5791A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41111396 | |||||||
chr22:41111519 | CTTCCTTT | C | 6 | a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 others(3): Show |
6 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.95-5657_95-5651del others(7): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41111519 | ||||||
chr22:41111853 | T | A | 1 | a0001c0002t0005g0093 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.95-5334T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41111853 | |||||||
chr22:41111876 | C | CT | 17 | a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0209 others(14): Show |
17 | HG00099.hp1 HG00558.hp2 HG01433.hp1 others(14): Show |
intron_variant | MODIFIER | c.95-5282dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41111876 | ||||||
chr22:41111876 | C | CTT | 13 | a0001c0001t0001g0204 a0001c0001t0001g0211 a0001c0001t0001g0218 others(10): Show |
13 | HG00642.hp1 HG01261.hp1 HG01884.hp2 others(10): Show |
intron_variant | MODIFIER | c.95-5283_95-5282dup others(2): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41111876 | ||||||
chr22:41111876 | C | CTTT | 9 | a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0001g0223 others(6): Show |
9 | HG00544.hp2 HG01346.hp2 HG02165.hp1 others(6): Show |
intron_variant | MODIFIER | c.95-5284_95-5282dup others(3): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41111876 | ||||||
chr22:41111876 | CT | C | 30 | a0001c0001t0001g0249 a0001c0001t0001g0253 a0001c0001t0001g0254 others(27): Show |
30 | HG00140.hp2 HG00280.hp1 HG00735.hp1 others(27): Show |
intron_variant | MODIFIER | c.95-5282delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41111876 | ||||||
chr22:41111876 | CTT | C | 17 | a0001c0001t0004g0196 a0001c0002t0002g0164 a0001c0002t0002g0166 others(14): Show |
17 | HG00280.hp2 HG01109.hp1 HG01175.hp2 others(14): Show |
intron_variant | MODIFIER | c.95-5283_95-5282del others(2): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41111876 | ||||||
chr22:41111876 | CTTT | C | 59 | a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 others(56): Show |
59 | HG00099.hp2 HG00323.hp1 HG00423.hp2 others(56): Show |
intron_variant | MODIFIER | c.95-5284_95-5282del others(3): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41111876 | ||||||
chr22:41111876 | CTTTT | C | 61 | a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 others(58): Show |
61 | HG00597.hp2 HG00738.hp1 HG01070.hp1 others(58): Show |
intron_variant | MODIFIER | c.95-5285_95-5282del others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41111876 | ||||||
chr22:41111876 | CTTTTT | C | 61 | a0001c0002t0001g0057 a0001c0002t0001g0070 a0001c0002t0001g0075 others(58): Show |
61 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(58): Show |
intron_variant | MODIFIER | c.95-5286_95-5282del others(5): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41111876 | ||||||
chr22:41111876 | CTTTTTTT others(9): Show |
C | 1 | a0001c0001t0001g0235 | 1 | NA19080.hp2 | intron_variant | MODIFIER | c.95-5297_95-5282del others(16): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41111876 | ||||||
chr22:41111876 | CTTTTTTT others(10): Show |
C | 1 | a0001c0004t0001g0005 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.95-5298_95-5282del others(17): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41111876 | ||||||
chr22:41111951 | G | A | 1 | a0002c0003t0002g0133 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.95-5236G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41111951 | |||||||
chr22:41111954 | G | C | 209 | a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 others(206): Show |
209 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(206): Show |
intron_variant | MODIFIER | c.95-5233G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41111954 | |||||||
chr22:41111962 | A | C | 1 | a0001c0007t0001g0198 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.95-5225A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41111962 | |||||||
chr22:41112079 | G | A | 2 | a0001c0011t0009g0190 a0001c0011t0009g0191 |
2 | NA18980.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.95-5108G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41112079 | |||||||
chr22:41112081 | G | A | 4 | a0001c0004t0001g0003 a0001c0004t0001g0004 a0001c0004t0001g0005 others(1): Show |
4 | HG02723.hp2 HG02896.hp1 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.95-5106G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41112081 | |||||||
chr22:41112130 | C | T | 1 | a0001c0002t0011g0086 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.95-5057C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41112130 | |||||||
chr22:41112220 | C | T | 45 | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 others(42): Show |
45 | HG00099.hp1 HG00408.hp1 HG00544.hp2 others(42): Show |
intron_variant | MODIFIER | c.95-4967C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41112220 | |||||||
chr22:41112255 | TCTCTGCT others(9): Show |
T | 2 | a0002c0003t0002g0104 a0002c0003t0002g0180 |
2 | HG03688.hp2 HG04115.hp1 |
intron_variant | MODIFIER | c.95-4923_95-4908del others(16): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41112255 | ||||||
chr22:41112294 | G | A | 2 | a0002c0003t0002g0104 a0002c0003t0002g0180 |
2 | HG03688.hp2 HG04115.hp1 |
intron_variant | MODIFIER | c.95-4893G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41112294 | |||||||
chr22:41112343 | C | T | 4 | a0001c0002t0005g0091 a0001c0002t0005g0093 a0001c0002t0005g0094 others(1): Show |
4 | NA18943.hp1 NA18968.hp2 NA18998.hp2 others(1): Show |
intron_variant | MODIFIER | c.95-4844C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41112343 | |||||||
chr22:41112389 | T | C | 1 | a0001c0002t0001g0020 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.95-4798T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41112389 | |||||||
chr22:41112389 | T | G | 197 | a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 others(194): Show |
197 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(194): Show |
intron_variant | MODIFIER | c.95-4798T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41112389 | |||||||
chr22:41112410 | G | T | 57 | a0001c0002t0002g0141 a0001c0002t0002g0164 a0001c0002t0002g0165 others(54): Show |
57 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(54): Show |
intron_variant | MODIFIER | c.95-4777G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41112410 | |||||||
chr22:41112472 | T | G | 1 | a0001c0007t0001g0198 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.95-4715T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41112472 | |||||||
chr22:41112521 | T | C | 3 | a0001c0004t0001g0026 a0001c0004t0001g0036 a0001c0004t0001g0039 |
3 | HG02027.hp1 HG02132.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.95-4666T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41112521 | |||||||
chr22:41112609 | T | C | 8 | a0001c0002t0002g0141 a0001c0002t0002g0164 a0001c0002t0002g0165 others(5): Show |
8 | HG02280.hp1 HG02572.hp1 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.95-4578T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41112609 | |||||||
chr22:41112706 | A | ATTAT | 232 | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 others(229): Show |
232 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(229): Show |
intron_variant | MODIFIER | c.95-4479_95-4478ins others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41112706 | ||||||
chr22:41112708 | T | TATTTG | 19 | a0001c0006t0001g0042 a0001c0006t0001g0044 a0001c0006t0001g0045 others(16): Show |
19 | HG00099.hp2 HG00423.hp2 HG00735.hp2 others(16): Show |
intron_variant | MODIFIER | c.95-4479_95-4478ins others(5): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41112708 | |||||||
chr22:41112709 | G | A | 1 | a0001c0001t0004g0195 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.95-4478G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41112709 | |||||||
chr22:41112709 | G | T | 21 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(18): Show |
21 | HG00099.hp2 HG00423.hp2 HG00735.hp2 others(18): Show |
intron_variant | MODIFIER | c.95-4478G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41112709 | |||||||
chr22:41113106 | C | T | 4 | a0001c0009t0001g0199 a0001c0009t0001g0200 a0001c0010t0001g0201 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.95-4081C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41113106 | |||||||
chr22:41113157 | A | ACC | 62 | a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 others(59): Show |
62 | HG00140.hp1 HG00423.hp1 HG00558.hp1 others(59): Show |
intron_variant | MODIFIER | c.95-4021_95-4020dup others(2): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41113157 | ||||||
chr22:41113157 | A | ACCC | 24 | a0001c0001t0004g0195 a0001c0002t0001g0075 a0001c0002t0003g0125 others(21): Show |
24 | HG00323.hp2 HG00408.hp2 HG00639.hp2 others(21): Show |
intron_variant | MODIFIER | c.95-4022_95-4020dup others(3): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41113157 | ||||||
chr22:41113157 | A | ACCCC | 48 | a0001c0001t0004g0196 a0001c0002t0001g0018 a0001c0002t0001g0020 others(45): Show |
48 | HG00099.hp2 HG00323.hp1 HG00597.hp1 others(45): Show |
intron_variant | MODIFIER | c.95-4023_95-4020dup others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41113157 | ||||||
chr22:41113157 | A | ACCCCC | 38 | a0001c0002t0002g0167 a0001c0002t0012g0129 a0001c0004t0001g0006 others(35): Show |
38 | HG00280.hp2 HG00544.hp1 HG00597.hp2 others(35): Show |
intron_variant | MODIFIER | c.95-4024_95-4020dup others(5): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41113157 | ||||||
chr22:41113157 | A | ACCCCCC | 24 | a0001c0002t0002g0141 a0001c0002t0002g0164 a0001c0002t0002g0165 others(21): Show |
24 | HG00423.hp2 HG00738.hp1 HG01106.hp2 others(21): Show |
intron_variant | MODIFIER | c.95-4025_95-4020dup others(6): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41113157 | ||||||
chr22:41113170 | C | A | 2 | a0001c0001t0004g0196 a0001c0028t0004g0197 |
2 | HG02109.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.95-4017C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41113170 | |||||||
chr22:41113608 | G | A | 5 | a0001c0002t0002g0141 a0001c0002t0002g0164 a0001c0002t0002g0165 others(2): Show |
5 | HG02280.hp1 HG02965.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.95-3579G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41113608 | |||||||
chr22:41113638 | C | G | 129 | a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0070 others(126): Show |
129 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(126): Show |
intron_variant | MODIFIER | c.95-3549C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41113638 | |||||||
chr22:41113748 | G | A | 2 | a0002c0003t0002g0136 a0002c0003t0002g0174 |
2 | HG00323.hp1 HG00733.hp2 |
intron_variant | MODIFIER | c.95-3439G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41113748 | |||||||
chr22:41114039 | A | AATTGCAA others(6): Show |
1 | a0001c0002t0001g0018 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.95-3147_95-3135dup others(13): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41114039 | ||||||
chr22:41114175 | G | T | 192 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0056 others(189): Show |
192 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(189): Show |
intron_variant | MODIFIER | c.95-3012G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41114175 | |||||||
chr22:41114221 | A | G | 13 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(10): Show |
13 | HG01109.hp2 HG01891.hp1 HG02257.hp2 others(10): Show |
intron_variant | MODIFIER | c.95-2966A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41114221 | |||||||
chr22:41114286 | A | G | 1 | a0002c0003t0002g0142 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.95-2901A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41114286 | |||||||
chr22:41114296 | C | G | 10 | a0001c0005t0006g0106 a0001c0005t0006g0107 a0001c0005t0006g0108 others(7): Show |
10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.95-2891C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41114296 | |||||||
chr22:41114356 | A | G | 45 | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 others(42): Show |
45 | HG00099.hp1 HG00408.hp1 HG00544.hp2 others(42): Show |
intron_variant | MODIFIER | c.95-2831A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41114356 | |||||||
chr22:41114383 | A | G | 1 | a0009c0020t0001g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.95-2804A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41114383 | |||||||
chr22:41114414 | C | T | 1 | a0002c0003t0014g0144 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.95-2773C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41114414 | |||||||
chr22:41114463 | C | G | 1 | a0001c0001t0001g0270 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.95-2724C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41114463 | |||||||
chr22:41114473 | C | T | 6 | a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 others(3): Show |
6 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.95-2714C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41114473 | |||||||
chr22:41114655 | A | G | 4 | a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 others(1): Show |
4 | HG01099.hp1 HG02965.hp2 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.95-2532A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41114655 | |||||||
chr22:41114824 | G | GA | 196 | a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0195 others(193): Show |
196 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(193): Show |
intron_variant | MODIFIER | c.95-2352dupA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41114824 | ||||||
chr22:41115167 | T | C | 209 | a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 others(206): Show |
209 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(206): Show |
intron_variant | MODIFIER | c.95-2020T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41115167 | |||||||
chr22:41115172 | G | A | 209 | a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 others(206): Show |
209 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(206): Show |
intron_variant | MODIFIER | c.95-2015G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41115172 | |||||||
chr22:41115263 | A | G | 1 | a0001c0002t0001g0075 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.95-1924A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41115263 | |||||||
chr22:41115273 | G | A | 7 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(4): Show |
7 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.95-1914G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41115273 | |||||||
chr22:41115307 | C | T | 1 | a0011c0017t0003g0067 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.95-1880C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41115307 | |||||||
chr22:41115565 | TAGG | T | 3 | a0001c0001t0001g0221 a0001c0001t0001g0228 a0001c0001t0001g0239 |
3 | HG00642.hp1 HG01261.hp1 HG02683.hp2 |
intron_variant | MODIFIER | c.95-1619_95-1617del others(3): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41115565 | ||||||
chr22:41115586 | C | T | 1 | a0001c0002t0016g0076 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.95-1601C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41115586 | |||||||
chr22:41115597 | C | T | 1 | a0001c0022t0001g0296 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.95-1590C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41115597 | |||||||
chr22:41115733 | G | T | 10 | a0001c0005t0006g0106 a0001c0005t0006g0107 a0001c0005t0006g0108 others(7): Show |
10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.95-1454G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41115733 | |||||||
chr22:41115794 | G | A | 8 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(5): Show |
8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.95-1393G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41115794 | |||||||
chr22:41115918 | A | G | 1 | a0001c0002t0008g0124 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.95-1269A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41115918 | |||||||
chr22:41115952 | G | C | 4 | a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 others(1): Show |
4 | HG01099.hp1 HG02965.hp2 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.95-1235G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41115952 | |||||||
chr22:41115957 | A | C | 5 | a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0195 others(2): Show |
5 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.95-1230A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41115957 | |||||||
chr22:41116184 | A | G | 1 | a0009c0020t0001g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.95-1003A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41116184 | |||||||
chr22:41116192 | A | G | 1 | a0001c0002t0027g0088 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.95-995A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41116192 | |||||||
chr22:41116202 | CATT | C | 6 | a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 others(3): Show |
6 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.95-981_95-979delAT others(1): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41116202 | ||||||
chr22:41116220 | T | C | 1 | a0001c0002t0003g0062 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.95-967T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41116220 | |||||||
chr22:41116454 | C | T | 72 | a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0070 others(69): Show |
72 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(69): Show |
intron_variant | MODIFIER | c.95-733C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41116454 | |||||||
chr22:41116472 | C | G | 8 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(5): Show |
8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.95-715C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41116472 | |||||||
chr22:41116605 | G | A | 192 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0056 others(189): Show |
192 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(189): Show |
intron_variant | MODIFIER | c.95-582G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41116605 | |||||||
chr22:41116712 | T | C | 1 | a0001c0022t0001g0296 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.95-475T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41116712 | |||||||
chr22:41116742 | G | A | 11 | a0001c0004t0001g0021 a0001c0004t0001g0022 a0001c0004t0001g0027 others(8): Show |
11 | HG00544.hp1 HG02056.hp2 NA18948.hp2 others(8): Show |
intron_variant | MODIFIER | c.95-445G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41116742 | |||||||
chr22:41116985 | G | A | 3 | a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 |
3 | HG02965.hp2 HG02976.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.95-202G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41116985 | |||||||
chr22:41117015 | C | T | 3 | a0001c0001t0001g0219 a0001c0001t0001g0238 a0001c0001t0001g0241 |
3 | HG01106.hp1 HG01516.hp2 HG01517.hp1 |
intron_variant | MODIFIER | c.95-172C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41117015 | |||||||
chr22:41117090 | G | T | 192 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0056 others(189): Show |
192 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(189): Show |
intron_variant | MODIFIER | c.95-97G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41117090 | |||||||
chr22:41117130 | A | G | 1 | a0001c0002t0007g0080 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.95-57A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41117130 | |||||||
chr22:41117131 | G | T | 1 | a0001c0002t0007g0080 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.95-56G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41117131 | |||||||
chr22:41117171 | T | C | 40 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0004t0001g0001 others(37): Show |
40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.95-16T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41117171 | |||||||
chr22:41118081 | A | G | 1 | a0001c0009t0001g0199 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.729+260A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41118081 | |||||||
chr22:41118134 | A | T | 1 | a0001c0002t0007g0080 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.729+313A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41118134 | |||||||
chr22:41118135 | T | A | 1 | a0001c0002t0007g0080 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.729+314T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41118135 | |||||||
chr22:41118147 | C | T | 40 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0004t0001g0001 others(37): Show |
40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.729+326C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41118147 | |||||||
chr22:41118151 | G | A | 192 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0056 others(189): Show |
192 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(189): Show |
intron_variant | MODIFIER | c.729+330G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41118151 | |||||||
chr22:41118199 | G | C | 1 | a0001c0002t0005g0121 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.729+378G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41118199 | |||||||
chr22:41118228 | A | G | 8 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(5): Show |
8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.729+407A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41118228 | |||||||
chr22:41118297 | A | G | 5 | a0001c0004t0010g0002 a0001c0004t0010g0025 a0001c0004t0010g0030 others(2): Show |
5 | NA18948.hp2 NA18960.hp1 NA18964.hp2 others(2): Show |
intron_variant | MODIFIER | c.729+476A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41118297 | |||||||
chr22:41118360 | A | G | 1 | a0001c0005t0034g0134 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.729+539A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41118360 | |||||||
chr22:41118442 | T | C | 1 | a0001c0001t0001g0273 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.729+621T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41118442 | |||||||
chr22:41118698 | G | T | 1 | a0001c0001t0001g0267 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.729+877G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41118698 | |||||||
chr22:41118798 | A | G | 4 | a0001c0002t0008g0060 a0001c0002t0015g0099 a0001c0002t0018g0089 others(1): Show |
4 | HG00323.hp2 HG00639.hp2 HG01516.hp1 others(1): Show |
intron_variant | MODIFIER | c.729+977A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41118798 | |||||||
chr22:41118807 | AAAAG | A | 188 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0056 others(185): Show |
188 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(185): Show |
intron_variant | MODIFIER | c.729+989_729+992del others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41118807 | ||||||
chr22:41118811 | G | A | 1 | a0001c0002t0008g0066 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.729+990G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41118811 | |||||||
chr22:41118813 | A | C | 1 | a0001c0002t0007g0080 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.729+992A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41118813 | |||||||
chr22:41118890 | A | G | 4 | a0001c0009t0001g0199 a0001c0009t0001g0200 a0001c0010t0001g0201 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.729+1069A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41118890 | |||||||
chr22:41118976 | C | T | 2 | a0001c0001t0004g0196 a0001c0028t0004g0197 |
2 | HG02109.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.729+1155C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41118976 | |||||||
chr22:41119004 | C | CT | 57 | a0001c0002t0001g0018 a0001c0002t0005g0126 a0001c0002t0007g0052 others(54): Show |
57 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(54): Show |
intron_variant | MODIFIER | c.729+1199dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41119004 | ||||||
chr22:41119004 | C | CTT | 10 | a0001c0002t0002g0141 a0001c0002t0002g0164 a0001c0002t0002g0165 others(7): Show |
10 | HG00597.hp1 HG00609.hp1 HG02027.hp2 others(7): Show |
intron_variant | MODIFIER | c.729+1198_729+1199d others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41119004 | ||||||
chr22:41119158 | A | G | 1 | a0009c0020t0001g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.729+1337A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119158 | |||||||
chr22:41119166 | C | CTTATTA | 133 | a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0070 others(130): Show |
133 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(130): Show |
intron_variant | MODIFIER | c.729+1351_729+1356d others(8): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41119166 | ||||||
chr22:41119166 | CTTA | C | 3 | a0001c0007t0009g0192 a0001c0007t0009g0194 a0010c0014t0009g0193 |
3 | HG03139.hp1 HG03209.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.729+1354_729+1356d others(5): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41119166 | ||||||
chr22:41119172 | A | AT | 28 | a0001c0001t0001g0241 a0001c0001t0001g0245 a0001c0001t0001g0249 others(25): Show |
28 | HG00639.hp1 HG00735.hp1 HG00738.hp2 others(25): Show |
intron_variant | MODIFIER | c.729+1353dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41119172 | ||||||
chr22:41119172 | A | ATT | 39 | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 others(36): Show |
39 | HG00408.hp1 HG00544.hp2 HG00558.hp2 others(36): Show |
intron_variant | MODIFIER | c.729+1352_729+1353d others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41119172 | ||||||
chr22:41119172 | A | ATTT | 4 | a0001c0001t0001g0228 a0001c0001t0001g0234 a0001c0001t0001g0242 others(1): Show |
4 | HG01261.hp1 HG02257.hp1 HG02965.hp2 others(1): Show |
intron_variant | MODIFIER | c.729+1353_729+1354i others(5): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41119172 | ||||||
chr22:41119172 | A | ATTTT | 5 | a0001c0001t0001g0211 a0001c0001t0001g0285 a0001c0001t0001g0287 others(2): Show |
5 | HG01099.hp1 HG02258.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.729+1353_729+1354i others(6): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41119172 | ||||||
chr22:41119172 | A | T | 1 | a0001c0001t0001g0218 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.729+1351A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119172 | |||||||
chr22:41119172 | ATTATTTT others(4): Show |
A | 1 | a0003c0008t0001g0203 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.729+1354_729+1364d others(13): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41119172 | ||||||
chr22:41119175 | A | T | 90 | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 others(87): Show |
90 | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(87): Show |
intron_variant | MODIFIER | c.729+1354A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119175 | |||||||
chr22:41119176 | T | TA | 6 | a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 others(3): Show |
6 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.729+1355_729+1356i others(3): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119176 | |||||||
chr22:41119176 | T | TTATTA | 53 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0003g0125 others(50): Show |
53 | HG00408.hp2 HG00544.hp1 HG00597.hp2 others(50): Show |
intron_variant | MODIFIER | c.729+1356_729+1357i others(7): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41119176 | ||||||
chr22:41119177 | T | TATTA | 4 | a0001c0004t0001g0013 a0001c0004t0010g0002 a0001c0009t0001g0199 others(1): Show |
4 | HG02818.hp1 HG02897.hp2 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.729+1356_729+1357i others(6): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119177 | |||||||
chr22:41119178 | T | A | 130 | a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0070 others(127): Show |
130 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(127): Show |
intron_variant | MODIFIER | c.729+1357T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119178 | |||||||
chr22:41119179 | T | A | 51 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0003g0125 others(48): Show |
51 | HG00408.hp2 HG00544.hp1 HG00597.hp2 others(48): Show |
intron_variant | MODIFIER | c.729+1358T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119179 | |||||||
chr22:41119180 | T | A | 6 | a0001c0001t0001g0270 a0001c0002t0016g0114 a0001c0004t0001g0013 others(3): Show |
6 | HG02818.hp1 HG02897.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.729+1359T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119180 | |||||||
chr22:41119181 | T | A | 130 | a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 others(127): Show |
130 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(127): Show |
intron_variant | MODIFIER | c.729+1360T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119181 | |||||||
chr22:41119182 | T | A | 44 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0003g0125 others(41): Show |
44 | HG00408.hp2 HG00544.hp1 HG00597.hp2 others(41): Show |
intron_variant | MODIFIER | c.729+1361T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119182 | |||||||
chr22:41119183 | T | A | 5 | a0001c0002t0016g0114 a0001c0004t0001g0013 a0001c0004t0010g0002 others(2): Show |
5 | HG02818.hp1 HG02897.hp2 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.729+1362T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119183 | |||||||
chr22:41119184 | T | A | 100 | a0001c0002t0001g0075 a0001c0002t0001g0087 a0001c0002t0001g0092 others(97): Show |
100 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(97): Show |
intron_variant | MODIFIER | c.729+1363T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119184 | |||||||
chr22:41119185 | T | A | 29 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0003g0125 others(26): Show |
29 | HG00408.hp2 HG00544.hp1 HG00738.hp1 others(26): Show |
intron_variant | MODIFIER | c.729+1364T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119185 | |||||||
chr22:41119186 | T | A | 8 | a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 others(5): Show |
8 | HG02109.hp1 HG02818.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.729+1365T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119186 | |||||||
chr22:41119187 | T | A | 32 | a0001c0002t0001g0075 a0001c0002t0002g0164 a0001c0002t0002g0165 others(29): Show |
32 | HG00280.hp2 HG00423.hp1 HG00609.hp1 others(29): Show |
intron_variant | MODIFIER | c.729+1366T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119187 | |||||||
chr22:41119188 | T | A | 7 | a0001c0002t0005g0093 a0001c0004t0001g0022 a0001c0004t0001g0031 others(4): Show |
7 | HG00544.hp1 HG02056.hp2 HG02148.hp2 others(4): Show |
intron_variant | MODIFIER | c.729+1367T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119188 | |||||||
chr22:41119189 | T | A | 6 | a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 others(3): Show |
6 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.729+1368T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119189 | |||||||
chr22:41119192 | T | A | 3 | a0001c0001t0004g0187 a0001c0001t0004g0196 a0001c0028t0004g0197 |
3 | HG02109.hp1 NA18906.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.729+1371T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119192 | |||||||
chr22:41119568 | C | A | 1 | a0001c0002t0007g0080 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.729+1747C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119568 | |||||||
chr22:41119577 | G | A | 1 | a0009c0020t0001g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.729+1756G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119577 | |||||||
chr22:41119688 | TAATTTCT others(6): Show |
T | 9 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(6): Show |
9 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.729+1870_729+1882d others(15): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41119688 | ||||||
chr22:41119708 | G | T | 1 | a0001c0002t0007g0080 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.729+1887G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119708 | |||||||
chr22:41119709 | T | G | 1 | a0001c0002t0007g0080 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.729+1888T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119709 | |||||||
chr22:41119740 | T | G | 192 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0056 others(189): Show |
192 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(189): Show |
intron_variant | MODIFIER | c.729+1919T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119740 | |||||||
chr22:41119875 | C | T | 10 | a0001c0005t0006g0106 a0001c0005t0006g0107 a0001c0005t0006g0108 others(7): Show |
10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.729+2054C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119875 | |||||||
chr22:41120216 | T | C | 1 | a0001c0002t0001g0070 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.729+2395T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41120216 | |||||||
chr22:41120319 | C | G | 1 | a0009c0020t0001g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.729+2498C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41120319 | |||||||
chr22:41120498 | T | C | 8 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(5): Show |
8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.729+2677T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41120498 | |||||||
chr22:41120604 | A | G | 22 | a0001c0001t0001g0249 a0001c0001t0001g0253 a0001c0001t0001g0254 others(19): Show |
22 | HG00140.hp2 HG00280.hp1 HG00733.hp1 others(19): Show |
intron_variant | MODIFIER | c.729+2783A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41120604 | |||||||
chr22:41120769 | G | A | 1 | a0001c0001t0004g0263 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.729+2948G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41120769 | |||||||
chr22:41121225 | G | A | 3 | a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 |
3 | HG02965.hp2 HG02976.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.729+3404G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41121225 | |||||||
chr22:41121424 | A | G | 1 | a0001c0001t0001g0222 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.729+3603A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41121424 | |||||||
chr22:41121458 | A | G | 10 | a0001c0005t0006g0106 a0001c0005t0006g0107 a0001c0005t0006g0108 others(7): Show |
10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.729+3637A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41121458 | |||||||
chr22:41121662 | G | A | 1 | a0001c0004t0004g0028 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.729+3841G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41121662 | |||||||
chr22:41121751 | T | C | 7 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(4): Show |
7 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.729+3930T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41121751 | |||||||
chr22:41121883 | A | T | 10 | a0001c0005t0006g0106 a0001c0005t0006g0107 a0001c0005t0006g0108 others(7): Show |
10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.730-3981A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41121883 | |||||||
chr22:41121899 | A | G | 289 | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 others(286): Show |
289 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(286): Show |
intron_variant | MODIFIER | c.730-3965A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41121899 | |||||||
chr22:41121963 | A | T | 1 | a0001c0030t0004g0041 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.730-3901A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41121963 | |||||||
chr22:41121972 | G | T | 1 | a0001c0002t0005g0105 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.730-3892G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41121972 | |||||||
chr22:41121984 | A | G | 1 | a0001c0001t0001g0285 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.730-3880A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41121984 | |||||||
chr22:41122091 | A | G | 1 | a0001c0002t0015g0054 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.730-3773A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41122091 | |||||||
chr22:41122140 | TTTTC | T | 125 | a0001c0001t0001g0219 a0001c0001t0001g0241 a0001c0002t0001g0056 others(122): Show |
125 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(122): Show |
intron_variant | MODIFIER | c.730-3717_730-3714d others(6): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41122140 | ||||||
chr22:41122141 | TTTCTTTC | T | 4 | a0001c0002t0001g0057 a0001c0002t0003g0119 a0001c0002t0011g0086 others(1): Show |
4 | HG01257.hp2 HG01943.hp1 HG02132.hp2 others(1): Show |
intron_variant | MODIFIER | c.730-3717_730-3711d others(9): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41122141 | ||||||
chr22:41122157 | C | CT | 10 | a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0004g0272 others(7): Show |
10 | HG01109.hp2 HG01884.hp2 HG02258.hp1 others(7): Show |
intron_variant | MODIFIER | c.730-3683dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41122157 | ||||||
chr22:41122157 | C | CTTT | 6 | a0001c0005t0006g0106 a0001c0005t0006g0109 a0001c0005t0006g0111 others(3): Show |
6 | HG01884.hp1 HG01891.hp2 HG02717.hp1 others(3): Show |
intron_variant | MODIFIER | c.730-3685_730-3683d others(5): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41122157 | ||||||
chr22:41122157 | CT | C | 63 | a0001c0001t0001g0223 a0001c0001t0001g0253 a0001c0001t0001g0258 others(60): Show |
63 | HG00140.hp2 HG00408.hp2 HG00544.hp1 others(60): Show |
intron_variant | MODIFIER | c.730-3683delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41122157 | ||||||
chr22:41122157 | CTT | C | 116 | a0001c0001t0001g0219 a0001c0001t0001g0241 a0001c0002t0001g0056 others(113): Show |
116 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(113): Show |
intron_variant | MODIFIER | c.730-3684_730-3683d others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41122157 | ||||||
chr22:41122157 | CTTTTTTT others(6): Show |
C | 1 | a0001c0004t0001g0009 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.730-3695_730-3683d others(15): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41122157 | ||||||
chr22:41122160 | T | C | 4 | a0001c0002t0001g0057 a0001c0002t0003g0119 a0001c0002t0011g0086 others(1): Show |
4 | HG01257.hp2 HG01943.hp1 HG02132.hp2 others(1): Show |
intron_variant | MODIFIER | c.730-3704T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41122160 | |||||||
chr22:41122171 | T | C | 3 | a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 |
3 | HG01346.hp2 HG02738.hp1 HG03831.hp1 |
intron_variant | MODIFIER | c.730-3693T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41122171 | |||||||
chr22:41122222 | A | G | 1 | a0009c0020t0001g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.730-3642A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41122222 | |||||||
chr22:41122392 | C | T | 1 | a0001c0002t0002g0141 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.730-3472C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41122392 | |||||||
chr22:41122407 | C | G | 1 | a0001c0007t0001g0198 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.730-3457C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41122407 | |||||||
chr22:41122825 | T | A | 1 | a0001c0002t0003g0125 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.730-3039T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41122825 | |||||||
chr22:41123020 | A | G | 1 | a0001c0004t0001g0016 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.730-2844A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41123020 | |||||||
chr22:41123304 | G | A | 192 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0056 others(189): Show |
192 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(189): Show |
intron_variant | MODIFIER | c.730-2560G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41123304 | |||||||
chr22:41123358 | T | C | 192 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0056 others(189): Show |
192 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(189): Show |
intron_variant | MODIFIER | c.730-2506T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41123358 | |||||||
chr22:41123634 | A | G | 10 | a0001c0005t0006g0106 a0001c0005t0006g0107 a0001c0005t0006g0108 others(7): Show |
10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.730-2230A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41123634 | |||||||
chr22:41123686 | T | C | 1 | a0001c0002t0001g0018 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.730-2178T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41123686 | |||||||
chr22:41123756 | CTTTG | C | 133 | a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0070 others(130): Show |
133 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(130): Show |
intron_variant | MODIFIER | c.730-2103_730-2100d others(6): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41123756 | ||||||
chr22:41123810 | A | G | 1 | a0001c0002t0008g0060 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.730-2054A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41123810 | |||||||
chr22:41123855 | C | T | 1 | a0001c0021t0001g0298 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.730-2009C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41123855 | |||||||
chr22:41123900 | A | C | 1 | a0001c0001t0001g0252 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.730-1964A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41123900 | |||||||
chr22:41124209 | C | T | 40 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0004t0001g0001 others(37): Show |
40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.730-1655C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41124209 | |||||||
chr22:41124382 | A | G | 1 | a0001c0002t0016g0114 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.730-1482A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41124382 | |||||||
chr22:41124427 | G | C | 1 | a0001c0002t0018g0089 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.730-1437G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41124427 | |||||||
chr22:41124544 | C | A | 1 | a0001c0007t0001g0198 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.730-1320C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41124544 | |||||||
chr22:41124545 | G | C | 292 | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 others(289): Show |
292 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(289): Show |
intron_variant | MODIFIER | c.730-1319G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41124545 | |||||||
chr22:41124685 | A | C | 1 | a0001c0002t0024g0053 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.730-1179A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41124685 | |||||||
chr22:41124695 | G | A | 1 | a0001c0004t0001g0038 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.730-1169G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41124695 | |||||||
chr22:41124725 | A | G | 1 | a0001c0002t0003g0062 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.730-1139A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41124725 | |||||||
chr22:41124726 | T | C | 1 | a0001c0004t0001g0008 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.730-1138T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41124726 | |||||||
chr22:41124744 | G | A | 1 | a0001c0001t0001g0237 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.730-1120G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41124744 | |||||||
chr22:41124841 | ACT | A | 8 | a0001c0001t0001g0252 a0001c0001t0001g0271 a0001c0001t0001g0273 others(5): Show |
8 | HG01099.hp1 HG01496.hp1 HG02572.hp2 others(5): Show |
intron_variant | MODIFIER | c.730-1020_730-1019d others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41124841 | ||||||
chr22:41124976 | T | G | 1 | a0001c0023t0001g0250 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.730-888T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41124976 | |||||||
chr22:41125112 | C | CT | 24 | a0001c0001t0001g0212 a0001c0001t0001g0218 a0001c0001t0001g0221 others(21): Show |
24 | HG00140.hp1 HG00642.hp1 HG00733.hp1 others(21): Show |
intron_variant | MODIFIER | c.730-728dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41125112 | ||||||
chr22:41125112 | C | CTT | 9 | a0001c0001t0001g0257 a0001c0005t0006g0106 a0001c0005t0006g0107 others(6): Show |
9 | HG01884.hp1 HG02257.hp2 HG02717.hp1 others(6): Show |
intron_variant | MODIFIER | c.730-729_730-728dup others(2): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41125112 | ||||||
chr22:41125112 | CT | C | 53 | a0001c0001t0001g0278 a0001c0002t0001g0056 a0001c0002t0001g0057 others(50): Show |
53 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(50): Show |
intron_variant | MODIFIER | c.730-728delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41125112 | ||||||
chr22:41125112 | CTTTTTTT others(5): Show |
C | 2 | a0001c0011t0009g0190 a0001c0011t0009g0191 |
2 | NA18980.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.730-739_730-728del others(12): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41125112 | ||||||
chr22:41125428 | G | GT | 7 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(4): Show |
7 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.730-426dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41125428 | ||||||
chr22:41125428 | G | T | 17 | a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 others(14): Show |
17 | HG00140.hp2 HG00280.hp1 HG00735.hp1 others(14): Show |
intron_variant | MODIFIER | c.730-436G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41125428 | |||||||
chr22:41125428 | GT | G | 8 | a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 others(5): Show |
8 | HG01099.hp1 HG02258.hp2 HG02965.hp2 others(5): Show |
intron_variant | MODIFIER | c.730-426delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41125428 | ||||||
chr22:41125429 | T | G | 44 | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 others(41): Show |
44 | HG00099.hp1 HG00408.hp1 HG00544.hp2 others(41): Show |
intron_variant | MODIFIER | c.730-435T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41125429 | |||||||
chr22:41125553 | G | A | 45 | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 others(42): Show |
45 | HG00099.hp1 HG00408.hp1 HG00544.hp2 others(42): Show |
intron_variant | MODIFIER | c.730-311G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41125553 | |||||||
chr22:41125581 | A | T | 1 | a0001c0022t0001g0296 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.730-283A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41125581 | |||||||
chr22:41125708 | T | A | 3 | a0001c0004t0001g0026 a0001c0004t0001g0036 a0001c0004t0001g0039 |
3 | HG02027.hp1 HG02132.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.730-156T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41125708 | |||||||
chr22:41125713 | T | C | 209 | a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 others(206): Show |
209 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(206): Show |
intron_variant | MODIFIER | c.730-151T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41125713 | |||||||
chr22:41125751 | C | G | 13 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(10): Show |
13 | HG01109.hp2 HG01891.hp1 HG02257.hp2 others(10): Show |
intron_variant | MODIFIER | c.730-113C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41125751 | |||||||
chr22:41125820 | A | G | 1 | a0011c0017t0003g0067 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.730-44A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41125820 | |||||||
chr22:41125844 | CTTTTGTT others(3): Show |
C | 40 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0004t0001g0001 others(37): Show |
40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.730-18_730-9delTTT others(7): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41125844 | ||||||
chr22:41126139 | A | G | 23 | a0001c0005t0006g0106 a0001c0005t0006g0107 a0001c0005t0006g0108 others(20): Show |
23 | HG01109.hp2 HG01884.hp1 HG01891.hp1 others(20): Show |
intron_variant | MODIFIER | c.906+99A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | chr22 | 41126139 | |||||||
chr22:41126170 | G | A | 1 | a0001c0001t0004g0187 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.906+130G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | chr22 | 41126170 | |||||||
chr22:41126227 | A | G | 10 | a0001c0005t0006g0106 a0001c0005t0006g0107 a0001c0005t0006g0108 others(7): Show |
10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.906+187A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | chr22 | 41126227 | |||||||
chr22:41126729 | C | CT | 45 | a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0001t0001g0258 others(42): Show |
45 | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(42): Show |
intron_variant | MODIFIER | c.906+721dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr22 | 41126729 | ||||||
chr22:41126729 | C | CTT | 20 | a0001c0001t0001g0251 a0001c0001t0001g0264 a0001c0001t0001g0266 others(17): Show |
20 | HG00323.hp1 HG00738.hp1 HG01081.hp1 others(17): Show |
intron_variant | MODIFIER | c.906+720_906+721dup others(2): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr22 | 41126729 | ||||||
chr22:41126729 | C | CTTT | 7 | a0002c0003t0002g0147 a0002c0003t0002g0157 a0002c0003t0002g0175 others(4): Show |
7 | HG00597.hp1 HG00609.hp1 HG01069.hp1 others(4): Show |
intron_variant | MODIFIER | c.906+719_906+721dup others(3): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr22 | 41126729 | ||||||
chr22:41126729 | C | CTTTTT | 20 | a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 others(17): Show |
20 | HG00544.hp2 HG00642.hp1 HG02683.hp2 others(17): Show |
intron_variant | MODIFIER | c.906+717_906+721dup others(5): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr22 | 41126729 | ||||||
chr22:41126729 | C | CTTTTTT | 15 | a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 others(12): Show |
15 | HG00099.hp1 HG01433.hp1 HG01516.hp2 others(12): Show |
intron_variant | MODIFIER | c.906+716_906+721dup others(6): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr22 | 41126729 | ||||||
chr22:41126729 | C | CTTTTTTT | 13 | a0001c0001t0001g0205 a0001c0001t0001g0215 a0001c0001t0001g0222 others(10): Show |
13 | HG00280.hp2 HG00408.hp1 HG00558.hp2 others(10): Show |
intron_variant | MODIFIER | c.906+715_906+721dup others(7): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr22 | 41126729 | ||||||
chr22:41126729 | CT | C | 18 | a0001c0001t0001g0274 a0001c0001t0004g0187 a0001c0001t0004g0195 others(15): Show |
18 | HG01070.hp2 HG01934.hp2 HG02027.hp1 others(15): Show |
intron_variant | MODIFIER | c.906+721delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr22 | 41126729 | ||||||
chr22:41126729 | CTT | C | 23 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0004t0001g0001 others(20): Show |
23 | HG00544.hp1 HG00597.hp2 HG02056.hp2 others(20): Show |
intron_variant | MODIFIER | c.906+720_906+721del others(2): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr22 | 41126729 | ||||||
chr22:41126729 | CTTT | C | 7 | a0001c0004t0001g0003 a0001c0004t0001g0005 a0001c0004t0001g0006 others(4): Show |
7 | HG02723.hp1 HG02896.hp1 HG02897.hp2 others(4): Show |
intron_variant | MODIFIER | c.906+719_906+721del others(3): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr22 | 41126729 | ||||||
chr22:41126729 | CTTTT | C | 12 | a0001c0005t0006g0110 a0001c0005t0006g0111 a0001c0006t0001g0042 others(9): Show |
12 | HG01109.hp2 HG01891.hp1 HG02145.hp2 others(9): Show |
intron_variant | MODIFIER | c.906+718_906+721del others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr22 | 41126729 | ||||||
chr22:41126729 | CTTTTT | C | 18 | a0001c0002t0001g0070 a0001c0002t0003g0063 a0001c0002t0005g0121 others(15): Show |
18 | HG00323.hp2 HG01175.hp1 HG01884.hp1 others(15): Show |
intron_variant | MODIFIER | c.906+717_906+721del others(5): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr22 | 41126729 | ||||||
chr22:41126729 | CTTTTTT | C | 63 | a0001c0002t0001g0056 a0001c0002t0001g0075 a0001c0002t0001g0087 others(60): Show |
63 | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(60): Show |
intron_variant | MODIFIER | c.906+716_906+721del others(6): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr22 | 41126729 | ||||||
chr22:41126729 | CTTTTTTT others(3): Show |
C | 2 | a0001c0001t0001g0286 a0001c0001t0001g0287 |
2 | HG02965.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.906+712_906+721del others(10): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr22 | 41126729 | ||||||
chr22:41126729 | CTTTTTTT others(6): Show |
C | 1 | a0009c0020t0001g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.906+709_906+721del others(13): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr22 | 41126729 | ||||||
chr22:41126934 | G | A | 1 | a0001c0005t0006g0135 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.907-553G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | chr22 | 41126934 | |||||||
chr22:41127004 | A | G | 1 | a0001c0022t0001g0296 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.907-483A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | chr22 | 41127004 | |||||||
chr22:41127036 | G | A | 4 | a0001c0004t0001g0003 a0001c0004t0001g0004 a0001c0004t0001g0005 others(1): Show |
4 | HG02723.hp2 HG02896.hp1 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.907-451G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | chr22 | 41127036 | |||||||
chr22:41127116 | C | T | 1 | a0002c0003t0002g0137 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.907-371C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | chr22 | 41127116 | |||||||
chr22:41127200 | C | G | 1 | a0001c0002t0005g0074 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.907-287C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | chr22 | 41127200 | |||||||
chr22:41127241 | T | C | 1 | a0001c0001t0001g0269 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.907-246T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | chr22 | 41127241 | |||||||
chr22:41127304 | T | C | 1 | a0001c0002t0008g0124 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.907-183T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | chr22 | 41127304 | |||||||
chr22:41127416 | T | C | 2 | a0001c0011t0009g0190 a0001c0011t0009g0191 |
2 | NA18980.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.907-71T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | chr22 | 41127416 | |||||||
chr22:41127417 | C | G | 1 | a0002c0003t0002g0181 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.907-70C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | chr22 | 41127417 | |||||||
chr22:41127755 | G | C | 1 | a0001c0001t0001g0242 | 1 | HG02257.hp1 | splice_region_variant&intron_variant | LOW | c.1168+7G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41127755 | |||||||
chr22:41127766 | G | A | 40 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0004t0001g0001 others(37): Show |
40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.1168+18G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41127766 | |||||||
chr22:41127768 | T | C | 4 | a0001c0002t0001g0070 a0001c0002t0005g0065 a0001c0002t0008g0066 others(1): Show |
4 | NA18988.hp2 NA18995.hp1 NA18998.hp1 others(1): Show |
intron_variant | MODIFIER | c.1168+20T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41127768 | |||||||
chr22:41127933 | A | G | 129 | a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0070 others(126): Show |
129 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(126): Show |
intron_variant | MODIFIER | c.1168+185A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41127933 | |||||||
chr22:41127996 | T | G | 2 | a0001c0004t0001g0011 a0001c0013t0001g0007 |
2 | HG02109.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.1168+248T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41127996 | |||||||
chr22:41128004 | A | G | 1 | a0001c0005t0006g0135 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1168+256A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41128004 | |||||||
chr22:41128174 | G | A | 2 | a0001c0001t0001g0221 a0001c0001t0001g0239 |
2 | HG00642.hp1 HG02683.hp2 |
intron_variant | MODIFIER | c.1168+426G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41128174 | |||||||
chr22:41128396 | G | A | 2 | a0001c0011t0009g0190 a0001c0011t0009g0191 |
2 | NA18980.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.1168+648G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41128396 | |||||||
chr22:41128460 | C | CA | 9 | a0001c0005t0006g0106 a0001c0005t0006g0107 a0001c0005t0006g0108 others(6): Show |
9 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.1168+722dupA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | INFO_REALIGN_3_PRIME | chr22 | 41128460 | ||||||
chr22:41128494 | T | A | 3 | a0001c0004t0001g0008 a0001c0004t0001g0010 a0002c0003t0002g0146 |
3 | HG01099.hp2 HG01934.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.1168+746T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41128494 | |||||||
chr22:41128495 | A | T | 10 | a0001c0005t0006g0106 a0001c0005t0006g0107 a0001c0005t0006g0108 others(7): Show |
10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.1168+747A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41128495 | |||||||
chr22:41128673 | G | A | 40 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0004t0001g0001 others(37): Show |
40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.1168+925G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41128673 | |||||||
chr22:41128727 | C | T | 1 | a0001c0030t0004g0041 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.1168+979C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41128727 | |||||||
chr22:41128757 | C | T | 4 | a0001c0001t0013g0277 a0001c0002t0001g0056 a0001c0002t0001g0057 others(1): Show |
4 | HG02559.hp1 HG02818.hp2 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.1168+1009C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41128757 | |||||||
chr22:41128791 | G | A | 6 | a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 others(3): Show |
6 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.1168+1043G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41128791 | |||||||
chr22:41128897 | G | A | 2 | a0001c0001t0001g0223 a0001c0001t0001g0224 |
2 | NA18986.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.1169-993G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41128897 | |||||||
chr22:41128936 | C | T | 13 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(10): Show |
13 | HG01109.hp2 HG01891.hp1 HG02257.hp2 others(10): Show |
intron_variant | MODIFIER | c.1169-954C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41128936 | |||||||
chr22:41129080 | A | G | 2 | a0001c0002t0003g0299 a0001c0002t0007g0300 |
2 | HG02129.hp2 HG02523.hp1 |
intron_variant | MODIFIER | c.1169-810A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41129080 | |||||||
chr22:41129167 | T | C | 1 | a0002c0003t0002g0149 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.1169-723T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41129167 | |||||||
chr22:41129168 | G | GC | 200 | a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 others(197): Show |
200 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(197): Show |
intron_variant | MODIFIER | c.1169-722_1169-721i others(3): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41129168 | |||||||
chr22:41129169 | G | C | 200 | a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 others(197): Show |
200 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(197): Show |
intron_variant | MODIFIER | c.1169-721G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41129169 | |||||||
chr22:41129171 | G | A | 1 | a0002c0003t0002g0149 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.1169-719G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41129171 | |||||||
chr22:41129176 | A | AT | 72 | a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0070 others(69): Show |
72 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(69): Show |
intron_variant | MODIFIER | c.1169-706dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | INFO_REALIGN_3_PRIME | chr22 | 41129176 | ||||||
chr22:41129272 | A | T | 9 | a0002c0003t0002g0131 a0002c0003t0002g0148 a0002c0003t0002g0152 others(6): Show |
9 | HG00423.hp2 HG00735.hp2 HG00738.hp1 others(6): Show |
intron_variant | MODIFIER | c.1169-618A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41129272 | |||||||
chr22:41129290 | C | T | 1 | a0001c0004t0001g0003 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1169-600C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41129290 | |||||||
chr22:41129364 | A | T | 1 | a0001c0002t0007g0052 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.1169-526A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41129364 | |||||||
chr22:41129561 | A | G | 1 | a0001c0002t0001g0115 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1169-329A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41129561 | |||||||
chr22:41130032 | T | C | 1 | a0001c0001t0001g0236 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.1282+29T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 5/30 | chr22 | 41130032 | |||||||
chr22:41130091 | A | T | 2 | a0001c0004t0001g0005 a0001c0004t0001g0016 |
2 | HG02723.hp2 HG02896.hp1 |
intron_variant | MODIFIER | c.1282+88A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 5/30 | chr22 | 41130091 | |||||||
chr22:41130102 | T | G | 1 | a0001c0022t0001g0296 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1282+99T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 5/30 | chr22 | 41130102 | |||||||
chr22:41130243 | C | A | 10 | a0001c0005t0006g0106 a0001c0005t0006g0107 a0001c0005t0006g0108 others(7): Show |
10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.1282+240C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 5/30 | chr22 | 41130243 | |||||||
chr22:41130246 | G | C | 4 | a0001c0009t0001g0199 a0001c0009t0001g0200 a0001c0010t0001g0201 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.1282+243G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 5/30 | chr22 | 41130246 | |||||||
chr22:41130254 | T | TA | 92 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0002g0141 others(89): Show |
92 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(89): Show |
intron_variant | MODIFIER | c.1282+267dupA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 5/30 | INFO_REALIGN_3_PRIME | chr22 | 41130254 | ||||||
chr22:41130254 | TA | T | 6 | a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 others(3): Show |
6 | HG00639.hp2 HG02896.hp2 HG02897.hp1 others(3): Show |
intron_variant | MODIFIER | c.1282+267delA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 5/30 | INFO_REALIGN_3_PRIME | chr22 | 41130254 | ||||||
chr22:41130360 | C | G | 2 | a0001c0002t0018g0089 a0001c0002t0029g0083 |
2 | HG00639.hp2 HG01516.hp1 |
intron_variant | MODIFIER | c.1282+357C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 5/30 | chr22 | 41130360 | |||||||
chr22:41130378 | C | T | 1 | a0001c0001t0001g0285 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1282+375C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 5/30 | chr22 | 41130378 | |||||||
chr22:41130484 | G | A | 4 | a0001c0002t0001g0070 a0001c0002t0005g0065 a0001c0002t0008g0066 others(1): Show |
4 | NA18988.hp2 NA18995.hp1 NA18998.hp1 others(1): Show |
intron_variant | MODIFIER | c.1282+481G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 5/30 | chr22 | 41130484 | |||||||
chr22:41130502 | C | G | 1 | a0001c0022t0001g0296 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1282+499C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 5/30 | chr22 | 41130502 | |||||||
chr22:41130533 | A | C | 10 | a0001c0005t0006g0106 a0001c0005t0006g0107 a0001c0005t0006g0108 others(7): Show |
10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.1282+530A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 5/30 | chr22 | 41130533 | |||||||
chr22:41130533 | AAAAAC | A | 17 | a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0259 others(14): Show |
17 | HG00140.hp2 HG00735.hp1 HG01069.hp1 others(14): Show |
intron_variant | MODIFIER | c.1282+550_1282+554d others(7): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 5/30 | INFO_REALIGN_3_PRIME | chr22 | 41130533 | ||||||
chr22:41130661 | C | T | 4 | a0001c0007t0001g0198 a0001c0007t0009g0192 a0001c0007t0009g0194 others(1): Show |
4 | HG02258.hp2 HG03139.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.1282+658C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 5/30 | chr22 | 41130661 | |||||||
chr22:41131081 | A | C | 1 | a0001c0009t0001g0199 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1283-307A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 5/30 | chr22 | 41131081 | |||||||
chr22:41131239 | C | G | 1 | a0001c0001t0004g0187 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1283-149C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 5/30 | chr22 | 41131239 | |||||||
chr22:41131380 | T | C | 10 | a0001c0005t0006g0106 a0001c0005t0006g0107 a0001c0005t0006g0108 others(7): Show |
10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
splice_region_variant&intron_variant | LOW | c.1283-8T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 5/30 | chr22 | 41131380 | |||||||
chr22:41131699 | T | C | 13 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(10): Show |
13 | HG01109.hp2 HG01891.hp1 HG02257.hp2 others(10): Show |
intron_variant | MODIFIER | c.1528+66T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41131699 | |||||||
chr22:41131760 | A | G | 1 | a0001c0002t0001g0092 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.1528+127A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41131760 | |||||||
chr22:41131791 | C | T | 1 | a0001c0022t0001g0296 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1528+158C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41131791 | |||||||
chr22:41131815 | T | C | 2 | a0001c0006t0001g0043 a0001c0006t0001g0048 |
2 | HG02257.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.1528+182T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41131815 | |||||||
chr22:41131920 | G | A | 1 | a0001c0004t0001g0035 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.1528+287G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41131920 | |||||||
chr22:41131975 | A | T | 1 | a0001c0001t0004g0188 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.1528+342A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41131975 | |||||||
chr22:41132089 | G | A | 1 | a0001c0001t0001g0270 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.1528+456G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41132089 | |||||||
chr22:41132195 | C | CA | 9 | a0001c0001t0004g0187 a0001c0002t0003g0085 a0001c0002t0011g0098 others(6): Show |
9 | HG00609.hp1 HG03098.hp2 HG03453.hp1 others(6): Show |
intron_variant | MODIFIER | c.1528+576dupA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr22 | 41132195 | ||||||
chr22:41132210 | T | A | 10 | a0001c0005t0006g0106 a0001c0005t0006g0107 a0001c0005t0006g0108 others(7): Show |
10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.1528+577T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41132210 | |||||||
chr22:41132257 | A | G | 8 | a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 others(5): Show |
8 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(5): Show |
intron_variant | MODIFIER | c.1528+624A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41132257 | |||||||
chr22:41132259 | G | C | 8 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(5): Show |
8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.1528+626G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41132259 | |||||||
chr22:41132285 | T | G | 1 | a0001c0022t0001g0296 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1528+652T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41132285 | |||||||
chr22:41132286 | C | CT | 11 | a0001c0005t0006g0110 a0001c0005t0006g0111 a0001c0006t0001g0042 others(8): Show |
11 | HG01891.hp1 HG02145.hp2 HG02257.hp2 others(8): Show |
intron_variant | MODIFIER | c.1528+673dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr22 | 41132286 | ||||||
chr22:41132286 | CT | C | 191 | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 others(188): Show |
191 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(188): Show |
intron_variant | MODIFIER | c.1528+673delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr22 | 41132286 | ||||||
chr22:41132286 | CTT | C | 38 | a0001c0001t0001g0212 a0001c0001t0001g0253 a0001c0001t0001g0254 others(35): Show |
38 | HG00140.hp2 HG00544.hp1 HG00597.hp2 others(35): Show |
intron_variant | MODIFIER | c.1528+672_1528+673d others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr22 | 41132286 | ||||||
chr22:41132286 | CTTT | C | 16 | a0001c0004t0001g0001 a0001c0004t0001g0003 a0001c0004t0001g0004 others(13): Show |
16 | HG01934.hp2 HG02109.hp2 HG02145.hp1 others(13): Show |
intron_variant | MODIFIER | c.1528+671_1528+673d others(5): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr22 | 41132286 | ||||||
chr22:41132319 | C | A | 129 | a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0070 others(126): Show |
129 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(126): Show |
intron_variant | MODIFIER | c.1528+686C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41132319 | |||||||
chr22:41132403 | T | G | 72 | a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0070 others(69): Show |
72 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(69): Show |
intron_variant | MODIFIER | c.1528+770T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41132403 | |||||||
chr22:41132573 | T | C | 63 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0004t0001g0001 others(60): Show |
63 | HG00544.hp1 HG00597.hp2 HG01109.hp2 others(60): Show |
intron_variant | MODIFIER | c.1528+940T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41132573 | |||||||
chr22:41132603 | A | G | 4 | a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 others(1): Show |
4 | HG01099.hp1 HG02965.hp2 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.1528+970A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41132603 | |||||||
chr22:41132758 | T | C | 40 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0004t0001g0001 others(37): Show |
40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.1528+1125T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41132758 | |||||||
chr22:41132893 | A | C | 1 | a0001c0030t0004g0041 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.1528+1260A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41132893 | |||||||
chr22:41133074 | T | G | 292 | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 others(289): Show |
292 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(289): Show |
intron_variant | MODIFIER | c.1528+1441T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41133074 | |||||||
chr22:41133140 | G | A | 36 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0004t0001g0001 others(33): Show |
36 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(33): Show |
intron_variant | MODIFIER | c.1528+1507G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41133140 | |||||||
chr22:41133152 | T | TC | 32 | a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0235 others(29): Show |
32 | HG00642.hp1 HG01081.hp1 HG01099.hp1 others(29): Show |
intron_variant | MODIFIER | c.1528+1529dupC | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr22 | 41133152 | ||||||
chr22:41133154 | C | A | 1 | a0001c0006t0001g0044 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.1528+1521C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41133154 | |||||||
chr22:41133155 | C | CG | 125 | a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0070 others(122): Show |
125 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(122): Show |
intron_variant | MODIFIER | c.1528+1522_1528+152 others(5): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41133155 | |||||||
chr22:41133462 | T | C | 4 | a0001c0004t0001g0003 a0001c0004t0001g0004 a0001c0004t0001g0005 others(1): Show |
4 | HG02723.hp2 HG02896.hp1 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.1528+1829T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41133462 | |||||||
chr22:41133599 | AGCATTTC others(4): Show |
A | 1 | a0012c0015t0001g0024 | 1 | NA19090.hp1 | intron_variant | MODIFIER | c.1528+1968_1528+197 others(15): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr22 | 41133599 | ||||||
chr22:41133720 | T | G | 45 | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 others(42): Show |
45 | HG00099.hp1 HG00408.hp1 HG00544.hp2 others(42): Show |
intron_variant | MODIFIER | c.1528+2087T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41133720 | |||||||
chr22:41133986 | A | G | 1 | a0001c0021t0001g0298 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.1529-1827A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41133986 | |||||||
chr22:41134036 | A | G | 57 | a0001c0002t0002g0141 a0001c0002t0002g0164 a0001c0002t0002g0165 others(54): Show |
57 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(54): Show |
intron_variant | MODIFIER | c.1529-1777A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41134036 | |||||||
chr22:41134053 | T | C | 40 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0004t0001g0001 others(37): Show |
40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.1529-1760T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41134053 | |||||||
chr22:41134055 | G | C | 1 | a0001c0005t0006g0135 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1529-1758G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41134055 | |||||||
chr22:41134163 | C | CT | 85 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0002g0141 others(82): Show |
85 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(82): Show |
intron_variant | MODIFIER | c.1529-1632dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr22 | 41134163 | ||||||
chr22:41134163 | CT | C | 75 | a0001c0001t0001g0235 a0001c0001t0001g0249 a0001c0001t0001g0255 others(72): Show |
75 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(72): Show |
intron_variant | MODIFIER | c.1529-1632delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr22 | 41134163 | ||||||
chr22:41134187 | T | C | 9 | a0001c0001t0001g0251 a0001c0001t0001g0278 a0001c0001t0001g0279 others(6): Show |
9 | HG00639.hp1 HG01884.hp2 HG02258.hp1 others(6): Show |
intron_variant | MODIFIER | c.1529-1626T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41134187 | |||||||
chr22:41134188 | T | G | 1 | a0009c0020t0001g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.1529-1625T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41134188 | |||||||
chr22:41134324 | G | A | 1 | a0001c0002t0024g0053 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1529-1489G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41134324 | |||||||
chr22:41134366 | CGT | C | 3 | a0001c0007t0009g0192 a0001c0007t0009g0194 a0010c0014t0009g0193 |
3 | HG03139.hp1 HG03209.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1529-1433_1529-143 others(6): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr22 | 41134366 | ||||||
chr22:41134429 | G | A | 4 | a0001c0009t0001g0199 a0001c0009t0001g0200 a0001c0010t0001g0201 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.1529-1384G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41134429 | |||||||
chr22:41134434 | G | A | 3 | a0001c0002t0015g0099 a0001c0002t0018g0089 a0001c0002t0029g0083 |
3 | HG00639.hp2 HG01516.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.1529-1379G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41134434 | |||||||
chr22:41134539 | C | T | 3 | a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0195 |
3 | HG02886.hp2 HG02970.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.1529-1274C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41134539 | |||||||
chr22:41134856 | C | T | 2 | a0001c0002t0003g0082 a0001c0002t0030g0064 |
2 | HG00140.hp1 HG02293.hp2 |
intron_variant | MODIFIER | c.1529-957C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41134856 | |||||||
chr22:41134898 | T | C | 1 | a0001c0002t0005g0074 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.1529-915T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41134898 | |||||||
chr22:41134898 | T | TTTTC | 10 | a0001c0001t0001g0251 a0001c0001t0004g0187 a0001c0001t0004g0188 others(7): Show |
10 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(7): Show |
intron_variant | MODIFIER | c.1529-899_1529-896d others(6): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr22 | 41134898 | ||||||
chr22:41134898 | T | TTTTCTTT others(5): Show |
61 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0004t0001g0001 others(58): Show |
61 | HG00544.hp1 HG00597.hp2 HG01109.hp2 others(58): Show |
intron_variant | MODIFIER | c.1529-907_1529-896d others(14): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr22 | 41134898 | ||||||
chr22:41134898 | T | TTTTCTTT others(9): Show |
2 | a0001c0005t0006g0135 a0009c0020t0001g0186 |
2 | HG02818.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1529-911_1529-896d others(18): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr22 | 41134898 | ||||||
chr22:41134962 | T | C | 45 | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 others(42): Show |
45 | HG00099.hp1 HG00408.hp1 HG00544.hp2 others(42): Show |
intron_variant | MODIFIER | c.1529-851T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41134962 | |||||||
chr22:41135151 | C | T | 1 | a0001c0001t0004g0187 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1529-662C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41135151 | |||||||
chr22:41135215 | A | G | 292 | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 others(289): Show |
292 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(289): Show |
intron_variant | MODIFIER | c.1529-598A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41135215 | |||||||
chr22:41135232 | C | T | 1 | a0001c0001t0001g0215 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.1529-581C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41135232 | |||||||
chr22:41135406 | A | G | 73 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0056 others(70): Show |
73 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(70): Show |
intron_variant | MODIFIER | c.1529-407A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41135406 | |||||||
chr22:41135496 | T | G | 40 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0004t0001g0001 others(37): Show |
40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.1529-317T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41135496 | |||||||
chr22:41135516 | C | T | 1 | a0001c0016t0011g0096 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.1529-297C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41135516 | |||||||
chr22:41135538 | G | C | 3 | a0001c0006t0001g0045 a0001c0006t0001g0046 a0001c0006t0001g0047 |
3 | HG02486.hp1 HG02630.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.1529-275G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41135538 | |||||||
chr22:41135565 | CT | C | 9 | a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 others(6): Show |
9 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(6): Show |
intron_variant | MODIFIER | c.1529-237delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr22 | 41135565 | ||||||
chr22:41135603 | A | G | 1 | a0001c0006t0001g0042 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1529-210A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41135603 | |||||||
chr22:41135666 | A | G | 4 | a0001c0009t0001g0199 a0001c0009t0001g0200 a0001c0010t0001g0201 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.1529-147A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41135666 | |||||||
chr22:41135673 | G | A | 9 | a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 others(6): Show |
9 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(6): Show |
intron_variant | MODIFIER | c.1529-140G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41135673 | |||||||
chr22:41135727 | T | A | 3 | a0001c0005t0006g0109 a0001c0005t0006g0111 a0001c0005t0006g0113 |
3 | HG01884.hp1 HG02717.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.1529-86T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41135727 | |||||||
chr22:41135749 | T | C | 5 | a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 others(2): Show |
5 | HG00558.hp2 NA18612.hp2 NA18943.hp2 others(2): Show |
intron_variant | MODIFIER | c.1529-64T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41135749 | |||||||
chr22:41136021 | A | G | 1 | a0002c0003t0014g0144 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1622+115A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 7/30 | chr22 | 41136021 | |||||||
chr22:41136052 | G | A | 1 | a0001c0002t0008g0061 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.1622+146G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 7/30 | chr22 | 41136052 | |||||||
chr22:41136325 | A | G | 3 | a0001c0004t0001g0026 a0001c0004t0001g0036 a0001c0004t0001g0039 |
3 | HG02027.hp1 HG02132.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.1622+419A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 7/30 | chr22 | 41136325 | |||||||
chr22:41136475 | T | G | 8 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(5): Show |
8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.1622+569T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 7/30 | chr22 | 41136475 | |||||||
chr22:41136530 | G | A | 45 | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 others(42): Show |
45 | HG00099.hp1 HG00408.hp1 HG00544.hp2 others(42): Show |
intron_variant | MODIFIER | c.1622+624G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 7/30 | chr22 | 41136530 | |||||||
chr22:41136625 | C | T | 1 | a0001c0001t0004g0187 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1622+719C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 7/30 | chr22 | 41136625 | |||||||
chr22:41136826 | G | A | 1 | a0001c0001t0004g0187 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1623-827G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 7/30 | chr22 | 41136826 | |||||||
chr22:41136917 | G | A | 1 | a0002c0003t0002g0174 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.1623-736G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 7/30 | chr22 | 41136917 | |||||||
chr22:41136930 | T | C | 200 | a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 others(197): Show |
200 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(197): Show |
intron_variant | MODIFIER | c.1623-723T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 7/30 | chr22 | 41136930 | |||||||
chr22:41137066 | GA | G | 57 | a0001c0002t0002g0141 a0001c0002t0002g0164 a0001c0002t0002g0165 others(54): Show |
57 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(54): Show |
intron_variant | MODIFIER | c.1623-578delA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 7/30 | INFO_REALIGN_3_PRIME | chr22 | 41137066 | ||||||
chr22:41137094 | C | T | 1 | a0001c0002t0005g0121 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.1623-559C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 7/30 | chr22 | 41137094 | |||||||
chr22:41137225 | C | T | 8 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(5): Show |
8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.1623-428C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 7/30 | chr22 | 41137225 | |||||||
chr22:41137303 | T | C | 1 | a0009c0020t0001g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.1623-350T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 7/30 | chr22 | 41137303 | |||||||
chr22:41137351 | T | C | 10 | a0001c0005t0006g0106 a0001c0005t0006g0107 a0001c0005t0006g0108 others(7): Show |
10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.1623-302T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 7/30 | chr22 | 41137351 | |||||||
chr22:41137356 | C | CA | 124 | a0001c0001t0001g0208 a0001c0001t0001g0249 a0001c0001t0001g0253 others(121): Show |
124 | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(121): Show |
intron_variant | MODIFIER | c.1623-277dupA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 7/30 | INFO_REALIGN_3_PRIME | chr22 | 41137356 | ||||||
chr22:41137356 | C | CAA | 74 | a0001c0002t0001g0075 a0001c0002t0001g0087 a0001c0002t0001g0092 others(71): Show |
74 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(71): Show |
intron_variant | MODIFIER | c.1623-278_1623-277d others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 7/30 | INFO_REALIGN_3_PRIME | chr22 | 41137356 | ||||||
chr22:41137633 | T | C | 1 | a0001c0001t0001g0267 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.1623-20T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 7/30 | chr22 | 41137633 | |||||||
chr22:41137919 | C | A | 1 | a0001c0001t0001g0279 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.1760+129C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 8/30 | chr22 | 41137919 | |||||||
chr22:41138168 | T | G | 1 | a0001c0007t0009g0194 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1760+378T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 8/30 | chr22 | 41138168 | |||||||
chr22:41138226 | C | T | 4 | a0001c0009t0001g0199 a0001c0009t0001g0200 a0001c0010t0001g0201 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.1760+436C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 8/30 | chr22 | 41138226 | |||||||
chr22:41138312 | T | C | 40 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0004t0001g0001 others(37): Show |
40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.1760+522T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 8/30 | chr22 | 41138312 | |||||||
chr22:41138352 | C | T | 57 | a0001c0002t0002g0141 a0001c0002t0002g0164 a0001c0002t0002g0165 others(54): Show |
57 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(54): Show |
intron_variant | MODIFIER | c.1760+562C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 8/30 | chr22 | 41138352 | |||||||
chr22:41138374 | C | T | 1 | a0001c0001t0004g0187 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1760+584C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 8/30 | chr22 | 41138374 | |||||||
chr22:41138563 | T | C | 1 | a0001c0001t0001g0257 | 1 | NA18992.hp2 | intron_variant | MODIFIER | c.1760+773T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 8/30 | chr22 | 41138563 | |||||||
chr22:41138922 | C | G | 8 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(5): Show |
8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.1760+1132C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 8/30 | chr22 | 41138922 | |||||||
chr22:41139148 | T | G | 9 | a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 others(6): Show |
9 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(6): Show |
intron_variant | MODIFIER | c.1761-992T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 8/30 | chr22 | 41139148 | |||||||
chr22:41139377 | G | T | 8 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(5): Show |
8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.1761-763G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 8/30 | chr22 | 41139377 | |||||||
chr22:41139480 | T | C | 4 | a0001c0009t0001g0199 a0001c0009t0001g0200 a0001c0010t0001g0201 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.1761-660T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 8/30 | chr22 | 41139480 | |||||||
chr22:41139519 | C | T | 1 | a0002c0027t0002g0179 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.1761-621C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 8/30 | chr22 | 41139519 | |||||||
chr22:41139569 | A | G | 8 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(5): Show |
8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.1761-571A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 8/30 | chr22 | 41139569 | |||||||
chr22:41139601 | T | C | 1 | a0001c0010t0001g0202 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1761-539T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 8/30 | chr22 | 41139601 | |||||||
chr22:41139718 | C | G | 40 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0004t0001g0001 others(37): Show |
40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.1761-422C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 8/30 | chr22 | 41139718 | |||||||
chr22:41139833 | T | A | 3 | a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 |
3 | HG01346.hp2 HG02738.hp1 HG03831.hp1 |
intron_variant | MODIFIER | c.1761-307T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 8/30 | chr22 | 41139833 | |||||||
chr22:41139871 | A | C | 1 | a0001c0002t0003g0125 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.1761-269A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 8/30 | chr22 | 41139871 | |||||||
chr22:41139904 | T | C | 1 | a0010c0014t0009g0193 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1761-236T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 8/30 | chr22 | 41139904 | |||||||
chr22:41140060 | T | C | 8 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0004t0001g0023 others(5): Show |
8 | HG00597.hp2 HG02083.hp2 NA18955.hp1 others(5): Show |
intron_variant | MODIFIER | c.1761-80T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 8/30 | chr22 | 41140060 | |||||||
chr22:41140108 | GAT | G | 5 | a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0195 others(2): Show |
5 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.1761-29_1761-28del others(2): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 8/30 | INFO_REALIGN_3_PRIME | chr22 | 41140108 | ||||||
chr22:41140316 | T | C | 8 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(5): Show |
8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.1878+59T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 9/30 | chr22 | 41140316 | |||||||
chr22:41140343 | A | T | 8 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(5): Show |
8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.1878+86A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 9/30 | chr22 | 41140343 | |||||||
chr22:41140448 | T | C | 1 | a0001c0002t0003g0055 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.1878+191T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 9/30 | chr22 | 41140448 | |||||||
chr22:41140755 | G | A | 6 | a0002c0003t0002g0155 a0002c0003t0002g0181 a0002c0003t0002g0182 others(3): Show |
6 | HG00597.hp1 HG00609.hp1 HG02027.hp2 others(3): Show |
intron_variant | MODIFIER | c.1879-293G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 9/30 | chr22 | 41140755 | |||||||
chr22:41140788 | C | G | 1 | a0001c0005t0034g0134 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1879-260C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 9/30 | chr22 | 41140788 | |||||||
chr22:41140821 | C | T | 1 | a0001c0004t0001g0029 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.1879-227C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 9/30 | chr22 | 41140821 | |||||||
chr22:41140898 | A | G | 8 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(5): Show |
8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.1879-150A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 9/30 | chr22 | 41140898 | |||||||
chr22:41140923 | T | G | 3 | a0001c0004t0001g0026 a0001c0004t0001g0036 a0001c0004t0001g0039 |
3 | HG02027.hp1 HG02132.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.1879-125T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 9/30 | chr22 | 41140923 | |||||||
chr22:41141230 | G | T | 289 | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 others(286): Show |
289 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(286): Show |
splice_region_variant&intron_variant | LOW | c.2053+8G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41141230 | |||||||
chr22:41141264 | A | G | 10 | a0001c0005t0006g0106 a0001c0005t0006g0107 a0001c0005t0006g0108 others(7): Show |
10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.2053+42A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41141264 | |||||||
chr22:41141286 | G | A | 1 | a0001c0002t0016g0116 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.2053+64G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41141286 | |||||||
chr22:41141375 | A | G | 2 | a0002c0003t0002g0183 a0002c0003t0002g0184 |
2 | HG02027.hp2 NA18747.hp2 |
intron_variant | MODIFIER | c.2053+153A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41141375 | |||||||
chr22:41141564 | G | C | 1 | a0001c0002t0007g0052 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.2053+342G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41141564 | |||||||
chr22:41141585 | A | G | 57 | a0001c0002t0002g0141 a0001c0002t0002g0164 a0001c0002t0002g0165 others(54): Show |
57 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(54): Show |
intron_variant | MODIFIER | c.2053+363A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41141585 | |||||||
chr22:41141665 | C | CT | 73 | a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0070 others(70): Show |
73 | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(70): Show |
intron_variant | MODIFIER | c.2053+456dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | INFO_REALIGN_3_PRIME | chr22 | 41141665 | ||||||
chr22:41141665 | CT | C | 10 | a0001c0001t0001g0249 a0001c0001t0001g0255 a0001c0001t0001g0256 others(7): Show |
10 | HG00733.hp1 HG01517.hp2 HG01943.hp2 others(7): Show |
intron_variant | MODIFIER | c.2053+456delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | INFO_REALIGN_3_PRIME | chr22 | 41141665 | ||||||
chr22:41141669 | T | G | 1 | a0001c0001t0035g0248 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.2053+447T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41141669 | |||||||
chr22:41141849 | G | T | 22 | a0001c0004t0001g0019 a0001c0004t0001g0021 a0001c0004t0001g0022 others(19): Show |
22 | HG00544.hp1 HG00597.hp2 HG02027.hp1 others(19): Show |
intron_variant | MODIFIER | c.2053+627G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41141849 | |||||||
chr22:41141866 | A | G | 4 | a0001c0009t0001g0199 a0001c0009t0001g0200 a0001c0010t0001g0201 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.2053+644A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41141866 | |||||||
chr22:41141920 | G | A | 1 | a0001c0002t0029g0083 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.2053+698G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41141920 | |||||||
chr22:41142018 | C | G | 1 | a0001c0023t0001g0250 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.2053+796C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41142018 | |||||||
chr22:41142107 | C | G | 254 | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 others(251): Show |
254 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(251): Show |
intron_variant | MODIFIER | c.2053+885C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41142107 | |||||||
chr22:41142157 | C | T | 1 | a0001c0001t0004g0187 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.2053+935C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41142157 | |||||||
chr22:41142245 | A | G | 1 | a0001c0001t0004g0187 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.2053+1023A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41142245 | |||||||
chr22:41142432 | A | G | 1 | a0001c0001t0001g0237 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.2053+1210A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41142432 | |||||||
chr22:41142448 | A | G | 1 | a0001c0001t0001g0265 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.2053+1226A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41142448 | |||||||
chr22:41142574 | G | A | 1 | a0001c0002t0015g0054 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.2053+1352G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41142574 | |||||||
chr22:41142697 | A | T | 10 | a0001c0005t0006g0106 a0001c0005t0006g0107 a0001c0005t0006g0108 others(7): Show |
10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.2053+1475A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41142697 | |||||||
chr22:41142743 | G | A | 1 | a0001c0001t0001g0209 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.2053+1521G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41142743 | |||||||
chr22:41142977 | G | T | 1 | a0001c0001t0001g0270 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.2053+1755G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41142977 | |||||||
chr22:41143001 | T | C | 1 | a0001c0022t0001g0296 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.2053+1779T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41143001 | |||||||
chr22:41143023 | C | A | 1 | a0002c0003t0002g0142 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.2053+1801C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41143023 | |||||||
chr22:41143083 | C | T | 1 | a0001c0002t0024g0053 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.2053+1861C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41143083 | |||||||
chr22:41143202 | C | G | 57 | a0001c0002t0002g0141 a0001c0002t0002g0164 a0001c0002t0002g0165 others(54): Show |
57 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(54): Show |
intron_variant | MODIFIER | c.2053+1980C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41143202 | |||||||
chr22:41143420 | T | C | 191 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0056 others(188): Show |
191 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(188): Show |
intron_variant | MODIFIER | c.2053+2198T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41143420 | |||||||
chr22:41143431 | A | G | 1 | a0001c0001t0004g0187 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.2053+2209A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41143431 | |||||||
chr22:41143538 | C | T | 1 | a0001c0004t0010g0037 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.2053+2316C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41143538 | |||||||
chr22:41143542 | A | G | 1 | a0001c0001t0001g0217 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.2053+2320A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41143542 | |||||||
chr22:41143609 | TTTGTCAC others(3): Show |
T | 1 | a0009c0020t0001g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.2053+2388_2053+239 others(14): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41143609 | |||||||
chr22:41143870 | C | A | 10 | a0001c0005t0006g0106 a0001c0005t0006g0107 a0001c0005t0006g0108 others(7): Show |
10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.2053+2648C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41143870 | |||||||
chr22:41143881 | G | A | 4 | a0001c0009t0001g0199 a0001c0009t0001g0200 a0001c0010t0001g0201 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.2053+2659G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41143881 | |||||||
chr22:41144241 | A | G | 1 | a0002c0003t0002g0171 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.2054-2498A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41144241 | |||||||
chr22:41144275 | T | C | 57 | a0001c0002t0002g0141 a0001c0002t0002g0164 a0001c0002t0002g0165 others(54): Show |
57 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(54): Show |
intron_variant | MODIFIER | c.2054-2464T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41144275 | |||||||
chr22:41144386 | G | C | 1 | a0001c0004t0001g0006 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2054-2353G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41144386 | |||||||
chr22:41144398 | C | G | 1 | a0002c0003t0014g0145 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.2054-2341C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41144398 | |||||||
chr22:41144427 | C | G | 1 | a0002c0003t0014g0145 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.2054-2312C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41144427 | |||||||
chr22:41144639 | G | T | 1 | a0001c0002t0011g0086 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.2054-2100G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41144639 | |||||||
chr22:41144649 | G | A | 3 | a0001c0002t0001g0092 a0001c0002t0001g0097 a0001c0002t0023g0058 |
3 | HG00673.hp1 NA18971.hp1 NA19057.hp2 |
intron_variant | MODIFIER | c.2054-2090G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41144649 | |||||||
chr22:41144930 | C | G | 72 | a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0070 others(69): Show |
72 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(69): Show |
intron_variant | MODIFIER | c.2054-1809C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41144930 | |||||||
chr22:41144954 | T | C | 1 | a0001c0002t0012g0130 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.2054-1785T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41144954 | |||||||
chr22:41144980 | T | G | 2 | a0002c0003t0002g0146 a0002c0003t0002g0151 |
2 | HG01099.hp2 HG01261.hp2 |
intron_variant | MODIFIER | c.2054-1759T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41144980 | |||||||
chr22:41144981 | C | G | 1 | a0001c0001t0035g0248 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.2054-1758C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41144981 | |||||||
chr22:41145007 | T | C | 1 | a0001c0001t0035g0248 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.2054-1732T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41145007 | |||||||
chr22:41145014 | C | T | 4 | a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 others(1): Show |
4 | HG01099.hp1 HG02965.hp2 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.2054-1725C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41145014 | |||||||
chr22:41145020 | A | G | 199 | a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 others(196): Show |
199 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(196): Show |
intron_variant | MODIFIER | c.2054-1719A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41145020 | |||||||
chr22:41145147 | A | G | 1 | a0001c0001t0001g0280 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.2054-1592A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41145147 | |||||||
chr22:41145184 | T | C | 40 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0004t0001g0001 others(37): Show |
40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.2054-1555T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41145184 | |||||||
chr22:41145407 | A | T | 2 | a0002c0003t0002g0170 a0002c0003t0002g0175 |
2 | HG00280.hp2 HG02683.hp1 |
intron_variant | MODIFIER | c.2054-1332A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41145407 | |||||||
chr22:41145423 | A | T | 1 | a0001c0023t0001g0250 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.2054-1316A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41145423 | |||||||
chr22:41145523 | G | C | 199 | a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 others(196): Show |
199 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(196): Show |
intron_variant | MODIFIER | c.2054-1216G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41145523 | |||||||
chr22:41145640 | T | C | 1 | a0001c0007t0009g0194 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.2054-1099T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41145640 | |||||||
chr22:41145647 | G | A | 3 | a0001c0006t0001g0045 a0001c0006t0001g0046 a0001c0006t0001g0047 |
3 | HG02486.hp1 HG02630.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.2054-1092G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41145647 | |||||||
chr22:41145654 | C | T | 40 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0004t0001g0001 others(37): Show |
40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.2054-1085C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41145654 | |||||||
chr22:41145729 | C | A | 1 | a0001c0001t0001g0285 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.2054-1010C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41145729 | |||||||
chr22:41145842 | A | G | 38 | a0001c0004t0001g0001 a0001c0004t0001g0003 a0001c0004t0001g0004 others(35): Show |
38 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(35): Show |
intron_variant | MODIFIER | c.2054-897A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41145842 | |||||||
chr22:41145856 | C | T | 1 | a0001c0004t0001g0006 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2054-883C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41145856 | |||||||
chr22:41145925 | T | C | 45 | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 others(42): Show |
45 | HG00099.hp1 HG00408.hp1 HG00544.hp2 others(42): Show |
intron_variant | MODIFIER | c.2054-814T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41145925 | |||||||
chr22:41146014 | G | A | 1 | a0001c0002t0024g0053 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.2054-725G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41146014 | |||||||
chr22:41146049 | A | G | 1 | a0001c0002t0007g0128 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.2054-690A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41146049 | |||||||
chr22:41146110 | C | G | 4 | a0001c0009t0001g0199 a0001c0009t0001g0200 a0001c0010t0001g0201 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.2054-629C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41146110 | |||||||
chr22:41146165 | A | AT | 163 | a0001c0001t0001g0237 a0001c0001t0001g0245 a0001c0001t0001g0278 others(160): Show |
163 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(160): Show |
intron_variant | MODIFIER | c.2054-557dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | INFO_REALIGN_3_PRIME | chr22 | 41146165 | ||||||
chr22:41146165 | A | ATT | 10 | a0001c0002t0001g0087 a0001c0002t0003g0122 a0001c0002t0003g0125 others(7): Show |
10 | HG00408.hp2 HG00558.hp1 HG00673.hp2 others(7): Show |
intron_variant | MODIFIER | c.2054-558_2054-557d others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | INFO_REALIGN_3_PRIME | chr22 | 41146165 | ||||||
chr22:41146245 | A | G | 1 | a0002c0003t0002g0163 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.2054-494A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41146245 | |||||||
chr22:41146416 | C | G | 1 | a0002c0003t0014g0145 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.2054-323C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41146416 | |||||||
chr22:41146441 | A | G | 3 | a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 |
3 | NA18612.hp2 NA18943.hp2 NA18971.hp2 |
intron_variant | MODIFIER | c.2054-298A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41146441 | |||||||
chr22:41146508 | G | T | 2 | a0003c0008t0001g0216 a0003c0008t0001g0220 |
2 | NA18988.hp1 NA19065.hp2 |
intron_variant | MODIFIER | c.2054-231G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41146508 | |||||||
chr22:41146510 | A | G | 1 | a0001c0004t0001g0026 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.2054-229A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41146510 | |||||||
chr22:41146680 | G | A | 1 | a0001c0002t0015g0054 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.2054-59G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41146680 | |||||||
chr22:41146833 | A | T | 3 | a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 |
3 | HG02965.hp2 HG02976.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.2131+17A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 11/30 | chr22 | 41146833 | |||||||
chr22:41146858 | G | A | 1 | a0001c0006t0001g0047 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.2131+42G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 11/30 | chr22 | 41146858 | |||||||
chr22:41146926 | C | T | 1 | a0001c0005t0006g0113 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.2131+110C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 11/30 | chr22 | 41146926 | |||||||
chr22:41146983 | T | C | 1 | a0001c0002t0005g0074 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.2131+167T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 11/30 | chr22 | 41146983 | |||||||
chr22:41147075 | C | T | 5 | a0001c0002t0002g0141 a0001c0002t0002g0164 a0001c0002t0002g0165 others(2): Show |
5 | HG02280.hp1 HG02965.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.2131+259C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 11/30 | chr22 | 41147075 | |||||||
chr22:41147101 | C | T | 2 | a0002c0003t0002g0049 a0002c0003t0002g0050 |
2 | HG03490.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.2131+285C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 11/30 | chr22 | 41147101 | |||||||
chr22:41147154 | A | C | 1 | a0001c0002t0029g0083 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.2131+338A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 11/30 | chr22 | 41147154 | |||||||
chr22:41147167 | G | A | 71 | a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0070 others(68): Show |
71 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(68): Show |
intron_variant | MODIFIER | c.2131+351G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 11/30 | chr22 | 41147167 | |||||||
chr22:41147303 | C | CAAA | 7 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(4): Show |
7 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.2131+501_2131+503d others(5): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 11/30 | INFO_REALIGN_3_PRIME | chr22 | 41147303 | ||||||
chr22:41147303 | CA | C | 130 | a0001c0001t0001g0208 a0001c0002t0001g0056 a0001c0002t0001g0057 others(127): Show |
130 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(127): Show |
intron_variant | MODIFIER | c.2131+503delA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 11/30 | INFO_REALIGN_3_PRIME | chr22 | 41147303 | ||||||
chr22:41147465 | C | T | 2 | a0001c0002t0001g0120 a0001c0002t0005g0127 |
2 | NA18947.hp1 NA18985.hp2 |
intron_variant | MODIFIER | c.2132-372C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 11/30 | chr22 | 41147465 | |||||||
chr22:41147485 | C | T | 1 | a0001c0009t0001g0199 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.2132-352C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 11/30 | chr22 | 41147485 | |||||||
chr22:41147509 | G | T | 8 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(5): Show |
8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.2132-328G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 11/30 | chr22 | 41147509 | |||||||
chr22:41147565 | C | T | 3 | a0001c0001t0001g0270 a0001c0001t0004g0272 a0001c0001t0004g0275 |
3 | HG02615.hp1 HG02717.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.2132-272C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 11/30 | chr22 | 41147565 | |||||||
chr22:41147581 | A | T | 10 | a0001c0005t0006g0106 a0001c0005t0006g0107 a0001c0005t0006g0108 others(7): Show |
10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.2132-256A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 11/30 | chr22 | 41147581 | |||||||
chr22:41147606 | C | T | 1 | a0001c0001t0004g0187 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.2132-231C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 11/30 | chr22 | 41147606 | |||||||
chr22:41147610 | C | T | 2 | a0001c0004t0001g0005 a0001c0004t0001g0016 |
2 | HG02723.hp2 HG02896.hp1 |
intron_variant | MODIFIER | c.2132-227C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 11/30 | chr22 | 41147610 | |||||||
chr22:41147717 | G | A | 40 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0004t0001g0001 others(37): Show |
40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.2132-120G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 11/30 | chr22 | 41147717 | |||||||
chr22:41147732 | C | T | 4 | a0001c0009t0001g0199 a0001c0009t0001g0200 a0001c0010t0001g0201 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.2132-105C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 11/30 | chr22 | 41147732 | |||||||
chr22:41147792 | A | G | 2 | a0001c0007t0001g0198 a0002c0003t0002g0147 |
2 | HG02258.hp2 NA20905.hp2 |
intron_variant | MODIFIER | c.2132-45A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 11/30 | chr22 | 41147792 | |||||||
chr22:41147979 | C | G | 40 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0004t0001g0001 others(37): Show |
40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.2241+33C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 12/30 | chr22 | 41147979 | |||||||
chr22:41148163 | C | T | 45 | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 others(42): Show |
45 | HG00099.hp1 HG00408.hp1 HG00544.hp2 others(42): Show |
intron_variant | MODIFIER | c.2241+217C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 12/30 | chr22 | 41148163 | |||||||
chr22:41148229 | A | G | 4 | a0001c0009t0001g0199 a0001c0009t0001g0200 a0001c0010t0001g0201 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.2241+283A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 12/30 | chr22 | 41148229 | |||||||
chr22:41148307 | C | G | 1 | a0003c0008t0001g0203 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.2241+361C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 12/30 | chr22 | 41148307 | |||||||
chr22:41148643 | C | A | 1 | a0001c0006t0001g0045 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.2242-395C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 12/30 | chr22 | 41148643 | |||||||
chr22:41148655 | C | G | 1 | a0001c0030t0004g0041 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2242-383C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 12/30 | chr22 | 41148655 | |||||||
chr22:41148664 | T | C | 1 | a0001c0005t0006g0111 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.2242-374T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 12/30 | chr22 | 41148664 | |||||||
chr22:41148745 | T | C | 1 | a0002c0003t0002g0149 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.2242-293T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 12/30 | chr22 | 41148745 | |||||||
chr22:41148840 | A | G | 1 | a0001c0004t0001g0034 | 1 | NA18994.hp2 | intron_variant | MODIFIER | c.2242-198A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 12/30 | chr22 | 41148840 | |||||||
chr22:41148955 | G | A | 40 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0004t0001g0001 others(37): Show |
40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.2242-83G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 12/30 | chr22 | 41148955 | |||||||
chr22:41149020 | G | GT | 17 | a0001c0001t0001g0237 a0001c0001t0035g0248 a0001c0002t0001g0075 others(14): Show |
17 | HG01891.hp1 HG02071.hp1 HG02257.hp2 others(14): Show |
splice_region_variant&intron_variant | LOW | c.2242-4dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 12/30 | INFO_REALIGN_3_PRIME | chr22 | 41149020 | ||||||
chr22:41149271 | G | T | 1 | a0009c0020t0001g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.2379+96G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 13/30 | chr22 | 41149271 | |||||||
chr22:41149272 | A | T | 1 | a0009c0020t0001g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.2379+97A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 13/30 | chr22 | 41149272 | |||||||
chr22:41149276 | C | T | 1 | a0009c0020t0001g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.2379+101C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 13/30 | chr22 | 41149276 | |||||||
chr22:41149288 | T | A | 52 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0004t0001g0001 others(49): Show |
52 | HG00544.hp1 HG00597.hp2 HG01109.hp2 others(49): Show |
intron_variant | MODIFIER | c.2379+113T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 13/30 | chr22 | 41149288 | |||||||
chr22:41149289 | A | T | 4 | a0001c0007t0001g0198 a0001c0007t0009g0192 a0001c0007t0009g0194 others(1): Show |
4 | HG02258.hp2 HG03139.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.2379+114A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 13/30 | chr22 | 41149289 | |||||||
chr22:41149326 | TGAA | T | 57 | a0001c0002t0002g0141 a0001c0002t0002g0164 a0001c0002t0002g0165 others(54): Show |
57 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(54): Show |
intron_variant | MODIFIER | c.2379+154_2379+156d others(5): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 13/30 | INFO_REALIGN_3_PRIME | chr22 | 41149326 | ||||||
chr22:41149497 | A | G | 1 | a0001c0002t0016g0076 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.2380-264A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 13/30 | chr22 | 41149497 | |||||||
chr22:41149619 | G | A | 16 | a0002c0003t0002g0131 a0002c0003t0002g0140 a0002c0003t0002g0146 others(13): Show |
16 | HG00099.hp2 HG00423.hp2 HG00735.hp2 others(13): Show |
intron_variant | MODIFIER | c.2380-142G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 13/30 | chr22 | 41149619 | |||||||
chr22:41149746 | T | C | 40 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0004t0001g0001 others(37): Show |
40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.2380-15T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 13/30 | chr22 | 41149746 | |||||||
chr22:41150309 | A | C | 1 | a0001c0001t0001g0226 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.2817+111A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 14/30 | chr22 | 41150309 | |||||||
chr22:41150325 | A | G | 2 | a0001c0010t0001g0201 a0001c0010t0001g0202 |
2 | HG02647.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.2817+127A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 14/30 | chr22 | 41150325 | |||||||
chr22:41150372 | T | G | 8 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(5): Show |
8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.2817+174T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 14/30 | chr22 | 41150372 | |||||||
chr22:41150380 | G | A | 2 | a0001c0007t0009g0194 a0010c0014t0009g0193 |
2 | HG03139.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.2817+182G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 14/30 | chr22 | 41150380 | |||||||
chr22:41150408 | C | G | 1 | a0001c0002t0001g0087 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.2817+210C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 14/30 | chr22 | 41150408 | |||||||
chr22:41150458 | C | T | 1 | a0002c0003t0002g0172 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.2817+260C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 14/30 | chr22 | 41150458 | |||||||
chr22:41150610 | C | T | 4 | a0001c0009t0001g0199 a0001c0009t0001g0200 a0001c0010t0001g0201 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.2817+412C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 14/30 | chr22 | 41150610 | |||||||
chr22:41150714 | C | T | 10 | a0001c0005t0006g0106 a0001c0005t0006g0107 a0001c0005t0006g0108 others(7): Show |
10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.2817+516C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 14/30 | chr22 | 41150714 | |||||||
chr22:41150885 | C | T | 2 | a0002c0003t0002g0170 a0002c0003t0002g0175 |
2 | HG00280.hp2 HG02683.hp1 |
intron_variant | MODIFIER | c.2817+687C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 14/30 | chr22 | 41150885 | |||||||
chr22:41150889 | T | TA | 15 | a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0004g0188 others(12): Show |
15 | HG00639.hp1 HG01884.hp1 HG01891.hp2 others(12): Show |
intron_variant | MODIFIER | c.2817+708dupA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 14/30 | INFO_REALIGN_3_PRIME | chr22 | 41150889 | ||||||
chr22:41150889 | TA | T | 11 | a0001c0002t0011g0086 a0001c0004t0001g0003 a0001c0006t0001g0042 others(8): Show |
11 | HG01257.hp2 HG01891.hp1 HG02257.hp2 others(8): Show |
intron_variant | MODIFIER | c.2817+708delA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 14/30 | INFO_REALIGN_3_PRIME | chr22 | 41150889 | ||||||
chr22:41151150 | C | A | 1 | a0002c0003t0002g0171 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.2818-683C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 14/30 | chr22 | 41151150 | |||||||
chr22:41151215 | G | C | 1 | a0001c0002t0003g0119 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.2818-618G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 14/30 | chr22 | 41151215 | |||||||
chr22:41151412 | C | G | 191 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0056 others(188): Show |
191 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(188): Show |
intron_variant | MODIFIER | c.2818-421C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 14/30 | chr22 | 41151412 | |||||||
chr22:41152040 | T | C | 1 | a0001c0002t0016g0076 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.2997+28T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 15/30 | chr22 | 41152040 | |||||||
chr22:41152194 | G | A | 6 | a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 others(3): Show |
6 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.2998-12G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 15/30 | chr22 | 41152194 | |||||||
chr22:41152416 | G | A | 1 | a0002c0003t0002g0133 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.3142+66G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | chr22 | 41152416 | |||||||
chr22:41152519 | T | C | 1 | a0001c0005t0006g0135 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.3142+169T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | chr22 | 41152519 | |||||||
chr22:41152595 | A | G | 7 | a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0210 others(4): Show |
7 | HG00099.hp1 HG00642.hp1 HG01261.hp1 others(4): Show |
intron_variant | MODIFIER | c.3142+245A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | chr22 | 41152595 | |||||||
chr22:41152722 | A | G | 3 | a0001c0001t0001g0219 a0001c0001t0001g0238 a0001c0001t0001g0241 |
3 | HG01106.hp1 HG01516.hp2 HG01517.hp1 |
intron_variant | MODIFIER | c.3142+372A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | chr22 | 41152722 | |||||||
chr22:41152977 | C | T | 1 | a0001c0004t0001g0034 | 1 | NA18994.hp2 | intron_variant | MODIFIER | c.3142+627C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | chr22 | 41152977 | |||||||
chr22:41153005 | T | C | 200 | a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 others(197): Show |
200 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(197): Show |
intron_variant | MODIFIER | c.3142+655T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | chr22 | 41153005 | |||||||
chr22:41153293 | A | G | 254 | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 others(251): Show |
254 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(251): Show |
intron_variant | MODIFIER | c.3142+943A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | chr22 | 41153293 | |||||||
chr22:41153460 | A | G | 1 | a0001c0001t0001g0240 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.3142+1110A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | chr22 | 41153460 | |||||||
chr22:41153466 | C | T | 1 | a0002c0003t0002g0133 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.3142+1116C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | chr22 | 41153466 | |||||||
chr22:41153503 | C | T | 41 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0004t0001g0001 others(38): Show |
41 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(38): Show |
intron_variant | MODIFIER | c.3142+1153C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | chr22 | 41153503 | |||||||
chr22:41153504 | G | A | 3 | a0001c0001t0001g0270 a0001c0001t0004g0272 a0001c0001t0004g0275 |
3 | HG02615.hp1 HG02717.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.3142+1154G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | chr22 | 41153504 | |||||||
chr22:41153917 | A | C | 209 | a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 others(206): Show |
209 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(206): Show |
intron_variant | MODIFIER | c.3143-1078A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | chr22 | 41153917 | |||||||
chr22:41153971 | T | C | 1 | a0001c0001t0001g0291 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.3143-1024T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | chr22 | 41153971 | |||||||
chr22:41154137 | C | G | 24 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0004t0001g0019 others(21): Show |
24 | HG00544.hp1 HG00597.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.3143-858C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | chr22 | 41154137 | |||||||
chr22:41154321 | C | T | 1 | a0001c0002t0001g0087 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.3143-674C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | chr22 | 41154321 | |||||||
chr22:41154376 | C | CTTT | 62 | a0001c0002t0001g0056 a0001c0002t0001g0070 a0001c0002t0001g0075 others(59): Show |
62 | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(59): Show |
intron_variant | MODIFIER | c.3143-598_3143-596d others(5): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | 41154376 | ||||||
chr22:41154376 | C | CTTTT | 14 | a0001c0001t0001g0285 a0001c0002t0001g0087 a0001c0002t0005g0121 others(11): Show |
14 | HG00673.hp2 HG01099.hp1 HG01175.hp1 others(11): Show |
intron_variant | MODIFIER | c.3143-599_3143-596d others(6): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | 41154376 | ||||||
chr22:41154376 | C | CTTTTT | 24 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0004t0001g0004 others(21): Show |
24 | HG01884.hp1 HG01952.hp1 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.3143-600_3143-596d others(7): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | 41154376 | ||||||
chr22:41154376 | C | CTTTTTT | 17 | a0001c0004t0001g0001 a0001c0004t0001g0008 a0001c0004t0001g0009 others(14): Show |
17 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(14): Show |
intron_variant | MODIFIER | c.3143-601_3143-596d others(8): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | 41154376 | ||||||
chr22:41154376 | C | CTTTTTTT | 6 | a0001c0001t0004g0187 a0001c0001t0004g0189 a0001c0001t0004g0195 others(3): Show |
6 | HG01891.hp1 HG02886.hp2 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.3143-602_3143-596d others(9): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | 41154376 | ||||||
chr22:41154376 | C | CTTTTTTT others(3): Show |
1 | a0001c0006t0001g0047 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.3143-605_3143-596d others(12): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | 41154376 | ||||||
chr22:41154376 | C | CTTTTTTT others(8): Show |
7 | a0002c0003t0002g0136 a0002c0003t0002g0149 a0002c0003t0002g0150 others(4): Show |
7 | HG00323.hp1 HG00642.hp2 HG00733.hp2 others(4): Show |
intron_variant | MODIFIER | c.3143-610_3143-596d others(17): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | 41154376 | ||||||
chr22:41154376 | C | CTTTTTTT others(9): Show |
3 | a0001c0010t0001g0201 a0001c0010t0001g0202 a0002c0003t0002g0177 |
3 | HG02647.hp1 HG02723.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.3143-611_3143-596d others(18): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | 41154376 | ||||||
chr22:41154376 | C | CTTTTTTT others(10): Show |
7 | a0002c0003t0002g0176 a0002c0003t0002g0182 a0002c0003t0002g0184 others(4): Show |
7 | HG00597.hp1 HG02523.hp2 HG03491.hp2 others(4): Show |
intron_variant | MODIFIER | c.3143-612_3143-596d others(19): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | 41154376 | ||||||
chr22:41154376 | C | CTTTTTTT others(11): Show |
7 | a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0019g0101 others(4): Show |
7 | HG01175.hp2 HG01346.hp1 HG02602.hp2 others(4): Show |
intron_variant | MODIFIER | c.3143-613_3143-596d others(20): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | 41154376 | ||||||
chr22:41154376 | C | CTTTTTTT others(12): Show |
9 | a0001c0002t0002g0164 a0001c0002t0002g0168 a0001c0002t0019g0102 others(6): Show |
9 | HG00099.hp2 HG00280.hp2 HG00609.hp1 others(6): Show |
intron_variant | MODIFIER | c.3143-614_3143-596d others(21): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | 41154376 | ||||||
chr22:41154376 | C | CTTTTTTT others(13): Show |
8 | a0001c0002t0002g0141 a0001c0002t0002g0165 a0002c0003t0002g0137 others(5): Show |
8 | HG00423.hp2 HG00735.hp2 HG01167.hp2 others(5): Show |
intron_variant | MODIFIER | c.3143-615_3143-596d others(22): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | 41154376 | ||||||
chr22:41154376 | C | CTTTTTTT others(14): Show |
1 | a0001c0009t0001g0199 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.3143-616_3143-596d others(23): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | 41154376 | ||||||
chr22:41154376 | C | CTTTTTTT others(15): Show |
5 | a0001c0030t0004g0041 a0002c0003t0002g0104 a0002c0003t0002g0173 others(2): Show |
5 | HG01069.hp2 HG01934.hp1 HG02027.hp2 others(2): Show |
intron_variant | MODIFIER | c.3143-617_3143-596d others(24): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | 41154376 | ||||||
chr22:41154376 | C | CTTTTTTT others(16): Show |
5 | a0001c0011t0009g0190 a0002c0003t0002g0142 a0002c0003t0002g0146 others(2): Show |
5 | HG01099.hp2 HG01261.hp2 HG03688.hp2 others(2): Show |
intron_variant | MODIFIER | c.3143-618_3143-596d others(25): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | 41154376 | ||||||
chr22:41154376 | C | CTTTTTTT others(17): Show |
1 | a0002c0003t0002g0133 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.3143-596_3143-595i others(26): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | 41154376 | ||||||
chr22:41154376 | C | CTTTTTTT others(18): Show |
1 | a0002c0003t0002g0049 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.3143-596_3143-595i others(27): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | 41154376 | ||||||
chr22:41154376 | C | CTTTTTTT others(19): Show |
3 | a0001c0011t0009g0191 a0002c0003t0002g0050 a0002c0003t0002g0153 |
3 | HG00738.hp1 HG03492.hp1 NA18980.hp1 |
intron_variant | MODIFIER | c.3143-596_3143-595i others(28): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | 41154376 | ||||||
chr22:41154376 | C | CTTTTTTT others(20): Show |
4 | a0002c0003t0002g0131 a0002c0003t0002g0148 a0002c0003t0002g0152 others(1): Show |
4 | HG01106.hp2 HG01993.hp1 HG02148.hp1 others(1): Show |
intron_variant | MODIFIER | c.3143-596_3143-595i others(29): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | 41154376 | ||||||
chr22:41154376 | C | CTTTTTTT others(21): Show |
1 | a0008c0025t0002g0139 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.3143-596_3143-595i others(30): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | 41154376 | ||||||
chr22:41154376 | CT | C | 12 | a0001c0001t0001g0205 a0001c0001t0001g0253 a0001c0001t0001g0254 others(9): Show |
12 | HG00140.hp2 HG00735.hp1 HG01070.hp2 others(9): Show |
intron_variant | MODIFIER | c.3143-596delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | 41154376 | ||||||
chr22:41154376 | CTTTTTTT others(3): Show |
C | 1 | a0001c0005t0006g0108 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.3143-605_3143-596d others(12): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | 41154376 | ||||||
chr22:41154462 | A | C | 9 | a0002c0003t0002g0147 a0002c0003t0002g0155 a0002c0003t0002g0163 others(6): Show |
9 | HG00597.hp1 HG00609.hp1 HG02027.hp2 others(6): Show |
intron_variant | MODIFIER | c.3143-533A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | chr22 | 41154462 | |||||||
chr22:41154582 | T | C | 15 | a0001c0002t0001g0120 a0001c0002t0003g0062 a0001c0002t0003g0084 others(12): Show |
15 | HG00423.hp1 HG00558.hp1 HG00609.hp2 others(12): Show |
intron_variant | MODIFIER | c.3143-413T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | chr22 | 41154582 | |||||||
chr22:41154950 | C | T | 192 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0056 others(189): Show |
192 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(189): Show |
intron_variant | MODIFIER | c.3143-45C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | chr22 | 41154950 | |||||||
chr22:41155227 | A | AT | 18 | a0001c0005t0006g0106 a0001c0005t0006g0107 a0001c0005t0006g0108 others(15): Show |
18 | HG01884.hp1 HG01891.hp1 HG01891.hp2 others(15): Show |
intron_variant | MODIFIER | c.3261+126dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr22 | 41155227 | ||||||
chr22:41155227 | AT | A | 7 | a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 others(4): Show |
7 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(4): Show |
intron_variant | MODIFIER | c.3261+126delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr22 | 41155227 | ||||||
chr22:41155285 | G | A | 10 | a0001c0005t0006g0106 a0001c0005t0006g0107 a0001c0005t0006g0108 others(7): Show |
10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.3261+172G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 17/30 | chr22 | 41155285 | |||||||
chr22:41155322 | G | T | 8 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(5): Show |
8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.3261+209G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 17/30 | chr22 | 41155322 | |||||||
chr22:41155430 | C | T | 22 | a0001c0004t0001g0019 a0001c0004t0001g0021 a0001c0004t0001g0022 others(19): Show |
22 | HG00544.hp1 HG00597.hp2 HG02027.hp1 others(19): Show |
intron_variant | MODIFIER | c.3261+317C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 17/30 | chr22 | 41155430 | |||||||
chr22:41155555 | A | G | 1 | a0001c0004t0001g0035 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.3261+442A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 17/30 | chr22 | 41155555 | |||||||
chr22:41155580 | T | A | 1 | a0001c0002t0017g0090 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.3261+467T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 17/30 | chr22 | 41155580 | |||||||
chr22:41155803 | C | T | 1 | a0001c0001t0001g0259 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.3261+690C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 17/30 | chr22 | 41155803 | |||||||
chr22:41155983 | T | G | 8 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(5): Show |
8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.3261+870T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 17/30 | chr22 | 41155983 | |||||||
chr22:41156072 | C | T | 5 | a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 others(2): Show |
5 | HG01099.hp1 HG02559.hp2 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.3261+959C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 17/30 | chr22 | 41156072 | |||||||
chr22:41156075 | A | G | 8 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(5): Show |
8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.3261+962A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 17/30 | chr22 | 41156075 | |||||||
chr22:41156099 | C | A | 2 | a0001c0011t0009g0190 a0001c0011t0009g0191 |
2 | NA18980.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.3261+986C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 17/30 | chr22 | 41156099 | |||||||
chr22:41156292 | C | T | 1 | a0009c0020t0001g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.3262-877C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 17/30 | chr22 | 41156292 | |||||||
chr22:41156434 | T | TA | 131 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0056 others(128): Show |
131 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(128): Show |
intron_variant | MODIFIER | c.3262-734dupA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr22 | 41156434 | ||||||
chr22:41156922 | T | G | 74 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0056 others(71): Show |
74 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(71): Show |
intron_variant | MODIFIER | c.3262-247T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 17/30 | chr22 | 41156922 | |||||||
chr22:41157512 | C | CT | 36 | a0001c0001t0001g0237 a0001c0001t0001g0245 a0001c0001t0001g0246 others(33): Show |
36 | HG00140.hp2 HG00323.hp1 HG00642.hp2 others(33): Show |
intron_variant | MODIFIER | c.3501+126dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 18/30 | INFO_REALIGN_3_PRIME | chr22 | 41157512 | ||||||
chr22:41157512 | C | CTT | 13 | a0001c0001t0001g0286 a0001c0001t0035g0248 a0001c0005t0006g0106 others(10): Show |
13 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(10): Show |
intron_variant | MODIFIER | c.3501+125_3501+126d others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 18/30 | INFO_REALIGN_3_PRIME | chr22 | 41157512 | ||||||
chr22:41157512 | CT | C | 9 | a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0002t0005g0051 others(6): Show |
9 | HG01109.hp2 HG01169.hp2 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.3501+126delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 18/30 | INFO_REALIGN_3_PRIME | chr22 | 41157512 | ||||||
chr22:41157678 | T | C | 8 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(5): Show |
8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.3501+270T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 18/30 | chr22 | 41157678 | |||||||
chr22:41158676 | A | G | 1 | a0001c0005t0006g0135 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.3590+176A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 19/30 | chr22 | 41158676 | |||||||
chr22:41158686 | C | T | 40 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0004t0001g0001 others(37): Show |
40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.3590+186C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 19/30 | chr22 | 41158686 | |||||||
chr22:41158917 | T | A | 1 | a0001c0002t0003g0062 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.3590+417T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 19/30 | chr22 | 41158917 | |||||||
chr22:41158967 | T | C | 3 | a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 |
3 | HG01346.hp2 HG02738.hp1 HG03831.hp1 |
intron_variant | MODIFIER | c.3590+467T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 19/30 | chr22 | 41158967 | |||||||
chr22:41159121 | T | C | 4 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(1): Show |
4 | HG01891.hp1 HG02257.hp2 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.3590+621T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 19/30 | chr22 | 41159121 | |||||||
chr22:41159475 | A | T | 1 | a0001c0005t0006g0135 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.3590+975A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 19/30 | chr22 | 41159475 | |||||||
chr22:41159631 | G | A | 1 | a0001c0001t0004g0187 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.3591-1011G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 19/30 | chr22 | 41159631 | |||||||
chr22:41159685 | T | G | 1 | a0010c0014t0009g0193 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.3591-957T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 19/30 | chr22 | 41159685 | |||||||
chr22:41159777 | C | T | 2 | a0003c0008t0001g0216 a0003c0008t0001g0220 |
2 | NA18988.hp1 NA19065.hp2 |
intron_variant | MODIFIER | c.3591-865C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 19/30 | chr22 | 41159777 | |||||||
chr22:41159932 | C | T | 1 | a0002c0003t0002g0163 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.3591-710C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 19/30 | chr22 | 41159932 | |||||||
chr22:41159946 | T | G | 13 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(10): Show |
13 | HG01109.hp2 HG01891.hp1 HG02257.hp2 others(10): Show |
intron_variant | MODIFIER | c.3591-696T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 19/30 | chr22 | 41159946 | |||||||
chr22:41160419 | C | CA | 97 | a0001c0001t0001g0237 a0001c0001t0001g0269 a0001c0002t0001g0018 others(94): Show |
97 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(94): Show |
intron_variant | MODIFIER | c.3591-212dupA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr22 | 41160419 | ||||||
chr22:41160431 | C | A | 1 | a0001c0004t0010g0002 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.3591-211C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 19/30 | chr22 | 41160431 | |||||||
chr22:41160445 | AAAAC | A | 5 | a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 others(2): Show |
5 | HG02602.hp2 HG02965.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.3591-189_3591-186d others(6): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr22 | 41160445 | ||||||
chr22:41160905 | A | C | 3 | a0001c0001t0001g0221 a0001c0001t0001g0228 a0001c0001t0001g0239 |
3 | HG00642.hp1 HG01261.hp1 HG02683.hp2 |
intron_variant | MODIFIER | c.3671+183A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 20/30 | chr22 | 41160905 | |||||||
chr22:41160972 | G | GT | 45 | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 others(42): Show |
45 | HG00099.hp1 HG00408.hp1 HG00544.hp2 others(42): Show |
intron_variant | MODIFIER | c.3671+251dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 20/30 | INFO_REALIGN_3_PRIME | chr22 | 41160972 | ||||||
chr22:41161159 | C | T | 3 | a0001c0001t0001g0219 a0001c0001t0001g0238 a0001c0001t0001g0241 |
3 | HG01106.hp1 HG01516.hp2 HG01517.hp1 |
intron_variant | MODIFIER | c.3671+437C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 20/30 | chr22 | 41161159 | |||||||
chr22:41161188 | C | G | 10 | a0001c0005t0006g0106 a0001c0005t0006g0107 a0001c0005t0006g0108 others(7): Show |
10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.3671+466C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 20/30 | chr22 | 41161188 | |||||||
chr22:41161418 | C | T | 22 | a0001c0005t0006g0106 a0001c0005t0006g0107 a0001c0005t0006g0108 others(19): Show |
22 | HG01109.hp2 HG01884.hp1 HG01891.hp1 others(19): Show |
intron_variant | MODIFIER | c.3671+696C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 20/30 | chr22 | 41161418 | |||||||
chr22:41161425 | G | C | 12 | a0001c0004t0001g0001 a0001c0004t0001g0006 a0001c0004t0001g0008 others(9): Show |
12 | HG01934.hp2 HG02109.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.3671+703G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 20/30 | chr22 | 41161425 | |||||||
chr22:41161442 | C | T | 1 | a0001c0001t0004g0188 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.3671+720C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 20/30 | chr22 | 41161442 | |||||||
chr22:41161478 | A | G | 4 | a0001c0009t0001g0199 a0001c0009t0001g0200 a0001c0010t0001g0201 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.3671+756A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 20/30 | chr22 | 41161478 | |||||||
chr22:41161499 | C | G | 6 | a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 others(3): Show |
6 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.3671+777C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 20/30 | chr22 | 41161499 | |||||||
chr22:41161823 | A | G | 4 | a0001c0009t0001g0199 a0001c0009t0001g0200 a0001c0010t0001g0201 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.3672-900A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 20/30 | chr22 | 41161823 | |||||||
chr22:41161919 | T | G | 1 | a0001c0002t0001g0092 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.3672-804T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 20/30 | chr22 | 41161919 | |||||||
chr22:41162228 | A | G | 131 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0056 others(128): Show |
131 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(128): Show |
intron_variant | MODIFIER | c.3672-495A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 20/30 | chr22 | 41162228 | |||||||
chr22:41162361 | C | G | 12 | a0002c0003t0002g0131 a0002c0003t0002g0146 a0002c0003t0002g0148 others(9): Show |
12 | HG00423.hp2 HG00735.hp2 HG00738.hp1 others(9): Show |
intron_variant | MODIFIER | c.3672-362C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 20/30 | chr22 | 41162361 | |||||||
chr22:41162432 | A | G | 10 | a0001c0005t0006g0106 a0001c0005t0006g0107 a0001c0005t0006g0108 others(7): Show |
10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.3672-291A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 20/30 | chr22 | 41162432 | |||||||
chr22:41162527 | T | C | 8 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(5): Show |
8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.3672-196T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 20/30 | chr22 | 41162527 | |||||||
chr22:41162834 | C | G | 5 | a0001c0002t0002g0141 a0001c0002t0002g0164 a0001c0002t0002g0165 others(2): Show |
5 | HG02280.hp1 HG02965.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.3728+55C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 21/30 | chr22 | 41162834 | |||||||
chr22:41162846 | G | C | 1 | a0001c0002t0015g0117 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.3728+67G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 21/30 | chr22 | 41162846 | |||||||
chr22:41162859 | A | G | 1 | a0001c0002t0002g0166 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.3728+80A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 21/30 | chr22 | 41162859 | |||||||
chr22:41162917 | A | G | 1 | a0001c0004t0001g0029 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.3728+138A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 21/30 | chr22 | 41162917 | |||||||
chr22:41162920 | C | T | 1 | a0001c0030t0004g0041 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.3728+141C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 21/30 | chr22 | 41162920 | |||||||
chr22:41162991 | T | G | 10 | a0001c0005t0006g0106 a0001c0005t0006g0107 a0001c0005t0006g0108 others(7): Show |
10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.3728+212T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 21/30 | chr22 | 41162991 | |||||||
chr22:41163068 | G | A | 1 | a0009c0020t0001g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.3728+289G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 21/30 | chr22 | 41163068 | |||||||
chr22:41163173 | C | A | 1 | a0012c0015t0001g0024 | 1 | NA19090.hp1 | intron_variant | MODIFIER | c.3728+394C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 21/30 | chr22 | 41163173 | |||||||
chr22:41163211 | A | G | 193 | a0001c0001t0001g0238 a0001c0002t0001g0018 a0001c0002t0001g0020 others(190): Show |
193 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(190): Show |
intron_variant | MODIFIER | c.3728+432A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 21/30 | chr22 | 41163211 | |||||||
chr22:41163218 | G | A | 4 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(1): Show |
4 | HG01891.hp1 HG02257.hp2 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.3728+439G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 21/30 | chr22 | 41163218 | |||||||
chr22:41163254 | T | C | 6 | a0002c0003t0002g0155 a0002c0003t0002g0181 a0002c0003t0002g0182 others(3): Show |
6 | HG00597.hp1 HG00609.hp1 HG02027.hp2 others(3): Show |
intron_variant | MODIFIER | c.3728+475T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 21/30 | chr22 | 41163254 | |||||||
chr22:41163297 | T | TAGTGGCG others(5): Show |
1 | a0001c0005t0006g0113 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.3728+519_3728+530d others(14): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 21/30 | INFO_REALIGN_3_PRIME | chr22 | 41163297 | ||||||
chr22:41163422 | G | A | 1 | a0001c0001t0001g0205 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.3729-631G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 21/30 | chr22 | 41163422 | |||||||
chr22:41163434 | C | CA | 47 | a0001c0001t0001g0204 a0001c0001t0001g0211 a0001c0001t0001g0212 others(44): Show |
47 | HG00544.hp1 HG00597.hp2 HG00609.hp2 others(44): Show |
intron_variant | MODIFIER | c.3729-598dupA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 21/30 | INFO_REALIGN_3_PRIME | chr22 | 41163434 | ||||||
chr22:41163434 | C | CAA | 8 | a0001c0004t0001g0019 a0001c0004t0001g0027 a0001c0004t0001g0036 others(5): Show |
8 | HG01109.hp2 HG02027.hp1 HG02486.hp2 others(5): Show |
intron_variant | MODIFIER | c.3729-599_3729-598d others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 21/30 | INFO_REALIGN_3_PRIME | chr22 | 41163434 | ||||||
chr22:41163434 | CA | C | 8 | a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0195 others(5): Show |
8 | HG01070.hp1 HG01934.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.3729-598delA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 21/30 | INFO_REALIGN_3_PRIME | chr22 | 41163434 | ||||||
chr22:41163959 | C | T | 1 | a0001c0002t0018g0089 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.3729-94C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 21/30 | chr22 | 41163959 | |||||||
chr22:41164647 | G | T | 1 | a0003c0008t0001g0203 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.3806+517G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 22/30 | chr22 | 41164647 | |||||||
chr22:41164725 | G | A | 1 | a0001c0004t0001g0016 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.3806+595G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 22/30 | chr22 | 41164725 | |||||||
chr22:41164832 | T | C | 3 | a0001c0006t0001g0045 a0001c0006t0001g0046 a0001c0006t0001g0047 |
3 | HG02486.hp1 HG02630.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.3806+702T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 22/30 | chr22 | 41164832 | |||||||
chr22:41164876 | C | A | 1 | a0001c0001t0001g0265 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.3806+746C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 22/30 | chr22 | 41164876 | |||||||
chr22:41165126 | T | C | 2 | a0001c0002t0008g0061 a0001c0002t0008g0066 |
2 | NA18988.hp2 NA18998.hp2 |
intron_variant | MODIFIER | c.3806+996T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 22/30 | chr22 | 41165126 | |||||||
chr22:41165271 | G | A | 40 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0004t0001g0001 others(37): Show |
40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.3806+1141G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 22/30 | chr22 | 41165271 | |||||||
chr22:41165356 | C | T | 1 | a0001c0002t0005g0121 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.3806+1226C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 22/30 | chr22 | 41165356 | |||||||
chr22:41165391 | A | G | 1 | a0009c0020t0001g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.3807-1208A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 22/30 | chr22 | 41165391 | |||||||
chr22:41165441 | G | A | 1 | a0001c0001t0001g0252 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.3807-1158G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 22/30 | chr22 | 41165441 | |||||||
chr22:41165446 | A | G | 30 | a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0195 others(27): Show |
30 | HG01109.hp2 HG01884.hp1 HG01891.hp1 others(27): Show |
intron_variant | MODIFIER | c.3807-1153A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 22/30 | chr22 | 41165446 | |||||||
chr22:41165511 | C | T | 4 | a0002c0003t0014g0138 a0002c0003t0014g0144 a0002c0003t0014g0145 others(1): Show |
4 | HG01175.hp2 HG03491.hp2 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.3807-1088C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 22/30 | chr22 | 41165511 | |||||||
chr22:41165678 | C | T | 7 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(4): Show |
7 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.3807-921C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 22/30 | chr22 | 41165678 | |||||||
chr22:41165679 | T | C | 4 | a0001c0009t0001g0199 a0001c0009t0001g0200 a0001c0010t0001g0201 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.3807-920T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 22/30 | chr22 | 41165679 | |||||||
chr22:41165683 | G | A | 1 | a0001c0005t0006g0107 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.3807-916G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 22/30 | chr22 | 41165683 | |||||||
chr22:41165781 | A | C | 1 | a0009c0020t0001g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.3807-818A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 22/30 | chr22 | 41165781 | |||||||
chr22:41165832 | T | G | 1 | a0001c0004t0001g0004 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.3807-767T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 22/30 | chr22 | 41165832 | |||||||
chr22:41165909 | C | G | 8 | a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 others(5): Show |
8 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(5): Show |
intron_variant | MODIFIER | c.3807-690C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 22/30 | chr22 | 41165909 | |||||||
chr22:41166173 | A | G | 276 | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 others(273): Show |
276 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(273): Show |
intron_variant | MODIFIER | c.3807-426A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 22/30 | chr22 | 41166173 | |||||||
chr22:41166292 | C | T | 1 | a0001c0002t0005g0074 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.3807-307C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 22/30 | chr22 | 41166292 | |||||||
chr22:41166735 | G | C | 1 | a0001c0001t0001g0285 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.3874+69G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41166735 | |||||||
chr22:41167019 | A | G | 1 | a0001c0001t0001g0245 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3874+353A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167019 | |||||||
chr22:41167020 | G | A | 1 | a0001c0002t0005g0079 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.3874+354G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167020 | |||||||
chr22:41167193 | T | G | 1 | a0002c0003t0002g0137 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.3874+527T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167193 | |||||||
chr22:41167336 | T | C | 4 | a0001c0007t0001g0198 a0001c0007t0009g0192 a0001c0007t0009g0194 others(1): Show |
4 | HG02258.hp2 HG03139.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.3874+670T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167336 | |||||||
chr22:41167418 | A | G | 1 | a0001c0002t0005g0127 | 1 | NA18985.hp2 | intron_variant | MODIFIER | c.3874+752A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167418 | |||||||
chr22:41167533 | A | G | 1 | a0001c0018t0001g0123 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.3874+867A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167533 | |||||||
chr22:41167560 | T | G | 1 | a0001c0001t0001g0236 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.3875-889T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167560 | |||||||
chr22:41167560 | T | TTG | 4 | a0001c0001t0001g0268 a0002c0003t0002g0147 a0002c0003t0002g0175 others(1): Show |
4 | HG00735.hp1 HG01943.hp1 HG02683.hp1 others(1): Show |
intron_variant | MODIFIER | c.3875-865_3875-864d others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167560 | ||||||
chr22:41167560 | TTG | T | 4 | a0001c0001t0001g0293 a0001c0001t0013g0283 a0001c0005t0006g0106 others(1): Show |
4 | HG01261.hp2 HG01884.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.3875-865_3875-864d others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167560 | ||||||
chr22:41167570 | GTGTGTGT others(15): Show |
G | 2 | a0001c0006t0001g0042 a0001c0006t0001g0044 |
2 | HG01891.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.3875-877_3875-856d others(24): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167570 | ||||||
chr22:41167572 | G | A | 1 | a0001c0006t0001g0048 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.3875-877G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167572 | |||||||
chr22:41167572 | GTGTGTGT others(17): Show |
G | 1 | a0001c0006t0001g0047 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.3875-875_3875-852d others(26): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167572 | ||||||
chr22:41167572 | GTGTGTGT others(19): Show |
G | 1 | a0001c0006t0001g0046 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.3875-875_3875-850d others(28): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167572 | ||||||
chr22:41167572 | GTGTGTGT others(21): Show |
G | 1 | a0001c0006t0001g0045 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.3875-875_3875-848d others(30): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167572 | ||||||
chr22:41167572 | GTGTGTGT others(27): Show |
G | 8 | a0001c0002t0003g0062 a0001c0002t0003g0084 a0001c0002t0003g0299 others(5): Show |
8 | HG00609.hp2 HG02056.hp1 HG02129.hp2 others(5): Show |
intron_variant | MODIFIER | c.3875-875_3875-842d others(36): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167572 | ||||||
chr22:41167572 | GTGTGTGT others(29): Show |
G | 8 | a0001c0002t0001g0120 a0001c0002t0003g0082 a0001c0002t0005g0127 others(5): Show |
8 | HG00140.hp1 HG00323.hp2 HG03017.hp1 others(5): Show |
intron_variant | MODIFIER | c.3875-875_3875-840d others(38): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167572 | ||||||
chr22:41167572 | GTGTGTGT others(31): Show |
G | 56 | a0001c0001t0001g0252 a0001c0002t0001g0056 a0001c0002t0001g0057 others(53): Show |
56 | HG00408.hp2 HG00423.hp1 HG00558.hp1 others(53): Show |
intron_variant | MODIFIER | c.3875-875_3875-838d others(40): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167572 | ||||||
chr22:41167572 | GTGTGTGT others(58): Show |
G | 5 | a0001c0009t0001g0199 a0001c0009t0001g0200 a0001c0010t0001g0201 others(2): Show |
5 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.3875-873_3875-809d others(67): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167572 | ||||||
chr22:41167574 | G | A | 2 | a0001c0002t0016g0116 a0001c0006t0001g0048 |
2 | HG03209.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.3875-875G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167574 | |||||||
chr22:41167576 | G | A | 1 | a0001c0006t0001g0048 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.3875-873G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167576 | |||||||
chr22:41167576 | GTGTGTGT others(5): Show |
G | 1 | a0001c0001t0001g0286 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.3875-871_3875-860d others(14): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167576 | ||||||
chr22:41167576 | GTGTGTGT others(9): Show |
G | 1 | a0001c0001t0001g0288 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.3875-871_3875-856d others(18): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167576 | ||||||
chr22:41167576 | GTGTGTGT others(11): Show |
G | 2 | a0001c0001t0001g0287 a0001c0005t0034g0134 |
2 | HG02976.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.3875-871_3875-854d others(20): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167576 | ||||||
chr22:41167576 | GTGTGTGT others(27): Show |
G | 1 | a0002c0003t0002g0142 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.3875-871_3875-838d others(36): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167576 | ||||||
chr22:41167576 | GTGTGTGT others(31): Show |
G | 2 | a0001c0005t0006g0109 a0001c0005t0006g0111 |
2 | HG02717.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.3875-871_3875-834d others(40): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167576 | ||||||
chr22:41167578 | G | A | 2 | a0001c0005t0006g0113 a0001c0006t0001g0048 |
2 | HG01884.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.3875-871G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167578 | |||||||
chr22:41167578 | GTGTGTGT others(5): Show |
G | 2 | a0001c0001t0001g0206 a0001c0001t0001g0209 |
2 | HG01433.hp1 HG02735.hp2 |
intron_variant | MODIFIER | c.3875-869_3875-858d others(14): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167578 | ||||||
chr22:41167578 | GTGTGTGT others(7): Show |
G | 3 | a0001c0001t0001g0210 a0001c0001t0001g0237 a0001c0005t0006g0135 |
3 | HG00099.hp1 HG02738.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.3875-869_3875-856d others(16): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167578 | ||||||
chr22:41167578 | GTGTGTGT others(9): Show |
G | 1 | a0001c0005t0006g0110 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.3875-869_3875-854d others(18): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167578 | ||||||
chr22:41167578 | GTGTGTGT others(25): Show |
G | 1 | a0001c0001t0001g0285 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.3875-869_3875-838d others(34): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167578 | ||||||
chr22:41167578 | GTGTGTGT others(29): Show |
G | 1 | a0009c0020t0001g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.3875-869_3875-834d others(38): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167578 | ||||||
chr22:41167578 | GTGTGTGT others(31): Show |
G | 1 | a0001c0002t0016g0116 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.3875-869_3875-832d others(40): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167578 | ||||||
chr22:41167580 | G | A | 6 | a0001c0005t0006g0106 a0001c0005t0006g0107 a0001c0005t0006g0108 others(3): Show |
6 | HG01884.hp1 HG02257.hp2 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.3875-869G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167580 | |||||||
chr22:41167580 | G | GTATATAT others(9): Show |
1 | a0001c0001t0001g0290 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.3875-868_3875-867i others(18): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167580 | ||||||
chr22:41167580 | GTGTGTAT others(3): Show |
G | 1 | a0001c0007t0009g0192 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.3875-867_3875-858d others(12): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167580 | ||||||
chr22:41167580 | GTGTGTAT others(5): Show |
G | 2 | a0001c0002t0019g0101 a0001c0002t0019g0102 |
2 | HG02572.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.3875-867_3875-856d others(14): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167580 | ||||||
chr22:41167580 | GTGTGTAT others(13): Show |
G | 5 | a0001c0004t0001g0005 a0001c0004t0001g0009 a0001c0004t0001g0012 others(2): Show |
5 | HG02723.hp2 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.3875-867_3875-848d others(22): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167580 | ||||||
chr22:41167580 | GTGTGTAT others(15): Show |
G | 8 | a0001c0004t0001g0003 a0001c0004t0001g0004 a0001c0004t0001g0006 others(5): Show |
8 | HG02109.hp2 HG02145.hp1 HG02615.hp2 others(5): Show |
intron_variant | MODIFIER | c.3875-867_3875-846d others(24): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167580 | ||||||
chr22:41167580 | GTGTGTAT others(17): Show |
G | 11 | a0001c0002t0001g0018 a0001c0004t0001g0014 a0001c0004t0001g0021 others(8): Show |
11 | HG02056.hp2 HG02083.hp2 NA18955.hp1 others(8): Show |
intron_variant | MODIFIER | c.3875-867_3875-844d others(26): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167580 | ||||||
chr22:41167580 | GTGTGTAT others(19): Show |
G | 11 | a0001c0004t0001g0019 a0001c0004t0001g0026 a0001c0004t0001g0029 others(8): Show |
11 | HG00597.hp2 HG02027.hp1 HG02132.hp1 others(8): Show |
intron_variant | MODIFIER | c.3875-867_3875-842d others(28): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167580 | ||||||
chr22:41167581 | TGTGTATA others(30): Show |
T | 1 | a0001c0004t0001g0001 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.3875-867_3875-831d others(39): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167581 | |||||||
chr22:41167582 | G | A | 11 | a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 others(8): Show |
11 | HG01433.hp2 HG01884.hp1 HG02257.hp2 others(8): Show |
intron_variant | MODIFIER | c.3875-867G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167582 | |||||||
chr22:41167582 | G | GTATATAT others(5): Show |
1 | a0001c0001t0004g0275 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.3875-866_3875-865i others(14): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167582 | ||||||
chr22:41167582 | GTGTATAT others(3): Show |
G | 2 | a0001c0002t0002g0166 a0001c0002t0002g0167 |
2 | HG02630.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.3875-865_3875-856d others(12): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167582 | ||||||
chr22:41167582 | GTGTATAT others(5): Show |
G | 4 | a0001c0002t0002g0141 a0001c0002t0002g0164 a0001c0002t0002g0165 others(1): Show |
4 | HG02280.hp1 HG03130.hp2 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.3875-865_3875-854d others(14): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167582 | ||||||
chr22:41167582 | GTGTATAT others(7): Show |
G | 2 | a0001c0001t0001g0271 a0001c0001t0001g0276 |
2 | HG01496.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.3875-865_3875-852d others(16): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167582 | ||||||
chr22:41167582 | GTGTATAT others(9): Show |
G | 9 | a0001c0001t0001g0273 a0002c0003t0002g0131 a0002c0003t0002g0148 others(6): Show |
9 | HG00735.hp2 HG00738.hp1 HG01106.hp2 others(6): Show |
intron_variant | MODIFIER | c.3875-865_3875-850d others(18): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167582 | ||||||
chr22:41167582 | GTGTATAT others(15): Show |
G | 1 | a0001c0004t0001g0010 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.3875-865_3875-844d others(24): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167582 | ||||||
chr22:41167582 | GTGTATAT others(17): Show |
G | 2 | a0001c0004t0001g0022 a0001c0004t0001g0032 |
2 | HG00544.hp1 NA18968.hp1 |
intron_variant | MODIFIER | c.3875-865_3875-842d others(26): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167582 | ||||||
chr22:41167582 | GTGTATAT others(21): Show |
G | 2 | a0001c0011t0009g0190 a0001c0011t0009g0191 |
2 | NA18980.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.3875-865_3875-838d others(30): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167582 | ||||||
chr22:41167584 | G | A | 15 | a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 others(12): Show |
15 | HG01433.hp2 HG01884.hp1 HG01891.hp2 others(12): Show |
intron_variant | MODIFIER | c.3875-865G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167584 | |||||||
chr22:41167584 | G | GTA | 5 | a0001c0001t0001g0227 a0001c0001t0001g0253 a0001c0001t0001g0256 others(2): Show |
5 | HG00140.hp2 HG02698.hp1 HG03491.hp1 others(2): Show |
intron_variant | MODIFIER | c.3875-814_3875-813d others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | ||||||
chr22:41167584 | G | GTATATAT others(1): Show |
4 | a0001c0001t0001g0274 a0001c0001t0013g0277 a0002c0003t0002g0155 others(1): Show |
4 | HG01070.hp2 HG02071.hp2 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.3875-820_3875-813d others(10): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | ||||||
chr22:41167584 | G | GTATATAT others(3): Show |
2 | a0001c0001t0001g0278 a0001c0001t0001g0282 |
2 | HG00639.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.3875-822_3875-813d others(12): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | ||||||
chr22:41167584 | G | GTATATAT others(5): Show |
1 | a0002c0003t0002g0172 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.3875-824_3875-813d others(14): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | ||||||
chr22:41167584 | G | GTGTATA | 3 | a0001c0001t0001g0266 a0002c0003t0002g0171 a0006c0031t0001g0247 |
3 | HG01069.hp1 HG01081.hp1 HG01496.hp2 |
intron_variant | MODIFIER | c.3875-864_3875-863i others(8): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | ||||||
chr22:41167584 | G | GTGTATAT others(1): Show |
3 | a0001c0001t0001g0258 a0001c0001t0001g0264 a0002c0003t0002g0170 |
3 | HG00280.hp2 HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.3875-864_3875-863i others(10): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | ||||||
chr22:41167584 | G | GTGTATAT others(7): Show |
2 | a0001c0001t0001g0269 a0002c0003t0002g0140 |
2 | HG02698.hp2 HG03834.hp2 |
intron_variant | MODIFIER | c.3875-864_3875-863i others(16): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | ||||||
chr22:41167584 | G | GTGTATAT others(11): Show |
1 | a0002c0003t0002g0160 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.3875-864_3875-863i others(20): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | ||||||
chr22:41167584 | G | GTGTGTAT others(11): Show |
1 | a0002c0003t0002g0173 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.3875-864_3875-863i others(20): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | ||||||
chr22:41167584 | GTA | G | 10 | a0001c0001t0001g0214 a0001c0001t0001g0230 a0001c0001t0001g0245 others(7): Show |
10 | HG00733.hp1 HG01346.hp2 HG02109.hp1 others(7): Show |
intron_variant | MODIFIER | c.3875-814_3875-813d others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | ||||||
chr22:41167584 | GTATA | G | 11 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0228 others(8): Show |
11 | HG01261.hp1 HG01981.hp2 HG03130.hp1 others(8): Show |
intron_variant | MODIFIER | c.3875-816_3875-813d others(6): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | ||||||
chr22:41167584 | GTATATA | G | 12 | a0001c0001t0001g0205 a0001c0001t0001g0211 a0001c0001t0001g0215 others(9): Show |
12 | HG00558.hp2 HG02129.hp1 HG02165.hp2 others(9): Show |
intron_variant | MODIFIER | c.3875-818_3875-813d others(8): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | ||||||
chr22:41167584 | GTATATAT others(1): Show |
G | 8 | a0001c0001t0001g0217 a0001c0001t0001g0224 a0001c0001t0001g0244 others(5): Show |
8 | HG00544.hp2 HG02970.hp2 HG02976.hp2 others(5): Show |
intron_variant | MODIFIER | c.3875-820_3875-813d others(10): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | ||||||
chr22:41167584 | GTATATAT others(3): Show |
G | 3 | a0001c0001t0001g0222 a0001c0001t0001g0257 a0002c0003t0014g0138 |
3 | NA18992.hp2 NA18993.hp2 NA20805.hp2 |
intron_variant | MODIFIER | c.3875-822_3875-813d others(12): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | ||||||
chr22:41167584 | GTATATAT others(7): Show |
G | 1 | a0001c0001t0001g0249 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.3875-826_3875-813d others(16): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | ||||||
chr22:41167584 | GTATATAT others(9): Show |
G | 2 | a0001c0001t0004g0187 a0002c0003t0002g0137 |
2 | HG01167.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.3875-828_3875-813d others(18): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | ||||||
chr22:41167584 | GTATATAT others(11): Show |
G | 6 | a0001c0001t0001g0255 a0001c0022t0001g0296 a0002c0003t0002g0149 others(3): Show |
6 | HG00642.hp2 HG01070.hp1 HG01257.hp1 others(3): Show |
intron_variant | MODIFIER | c.3875-830_3875-813d others(20): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | ||||||
chr22:41167584 | GTATATAT others(13): Show |
G | 3 | a0002c0003t0002g0136 a0002c0003t0002g0174 a0002c0027t0002g0179 |
3 | HG00323.hp1 HG00733.hp2 HG02735.hp1 |
intron_variant | MODIFIER | c.3875-832_3875-813d others(22): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | ||||||
chr22:41167584 | GTATATAT others(15): Show |
G | 6 | a0002c0003t0002g0104 a0002c0003t0002g0181 a0002c0003t0002g0182 others(3): Show |
6 | HG00597.hp1 HG00609.hp1 HG02027.hp2 others(3): Show |
intron_variant | MODIFIER | c.3875-834_3875-813d others(24): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | ||||||
chr22:41167584 | GTATATAT others(23): Show |
G | 5 | a0001c0001t0001g0219 a0001c0001t0001g0238 a0001c0001t0001g0241 others(2): Show |
5 | HG01106.hp1 HG01109.hp1 HG01516.hp2 others(2): Show |
intron_variant | MODIFIER | c.3875-842_3875-813d others(32): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | ||||||
chr22:41167584 | GTATATAT others(25): Show |
G | 1 | a0001c0001t0001g0254 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.3875-844_3875-813d others(34): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | ||||||
chr22:41167584 | GTATATAT others(31): Show |
G | 1 | a0001c0001t0001g0279 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.3875-850_3875-813d others(40): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | ||||||
chr22:41167584 | GTATATAT others(33): Show |
G | 3 | a0002c0003t0002g0049 a0002c0003t0002g0050 a0002c0003t0002g0133 |
3 | HG03017.hp2 HG03490.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.3875-852_3875-813d others(42): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | ||||||
chr22:41167586 | A | G | 10 | a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0229 others(7): Show |
10 | HG00280.hp1 HG01175.hp2 HG01943.hp1 others(7): Show |
intron_variant | MODIFIER | c.3875-863A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167586 | |||||||
chr22:41167586 | A | T | 1 | a0001c0001t0001g0239 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.3875-863A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167586 | |||||||
chr22:41167588 | A | G | 8 | a0001c0001t0001g0230 a0001c0001t0001g0245 a0001c0001t0001g0246 others(5): Show |
8 | HG00280.hp1 HG01346.hp2 HG01943.hp1 others(5): Show |
intron_variant | MODIFIER | c.3875-861A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167588 | |||||||
chr22:41167590 | A | G | 5 | a0001c0001t0001g0212 a0001c0001t0001g0245 a0001c0001t0004g0196 others(2): Show |
5 | HG01981.hp2 HG02109.hp1 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.3875-859A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167590 | |||||||
chr22:41167592 | A | G | 8 | a0001c0001t0001g0218 a0001c0001t0004g0195 a0001c0001t0004g0196 others(5): Show |
8 | HG02109.hp1 HG02129.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.3875-857A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167592 | |||||||
chr22:41167594 | A | G | 9 | a0001c0001t0001g0244 a0001c0001t0001g0270 a0001c0001t0004g0188 others(6): Show |
9 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(6): Show |
intron_variant | MODIFIER | c.3875-855A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167594 | |||||||
chr22:41167596 | A | G | 5 | a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0195 others(2): Show |
5 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.3875-853A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167596 | |||||||
chr22:41167598 | A | G | 4 | a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0196 others(1): Show |
4 | HG02109.hp1 HG02970.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.3875-851A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167598 | |||||||
chr22:41167600 | A | G | 3 | a0001c0001t0004g0189 a0001c0001t0004g0195 a0001c0001t0004g0196 |
3 | HG02886.hp2 HG03486.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.3875-849A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167600 | |||||||
chr22:41167602 | A | G | 2 | a0001c0001t0004g0187 a0002c0003t0002g0137 |
2 | HG01167.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.3875-847A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167602 | |||||||
chr22:41167604 | A | G | 3 | a0001c0001t0004g0187 a0001c0022t0001g0296 a0002c0003t0002g0180 |
3 | HG02559.hp2 HG03688.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.3875-845A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167604 | |||||||
chr22:41167606 | A | G | 1 | a0001c0001t0004g0187 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.3875-843A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167606 | |||||||
chr22:41167608 | A | G | 2 | a0002c0003t0002g0104 a0002c0003t0002g0184 |
2 | HG04115.hp1 NA18747.hp2 |
intron_variant | MODIFIER | c.3875-841A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167608 | |||||||
chr22:41167610 | A | G | 8 | a0001c0002t0003g0062 a0001c0002t0003g0084 a0001c0002t0003g0299 others(5): Show |
8 | HG00609.hp2 HG02056.hp1 HG02129.hp2 others(5): Show |
intron_variant | MODIFIER | c.3875-839A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167610 | |||||||
chr22:41167612 | A | G | 8 | a0001c0002t0001g0120 a0001c0002t0003g0082 a0001c0002t0005g0127 others(5): Show |
8 | HG00140.hp1 HG00323.hp2 HG03017.hp1 others(5): Show |
intron_variant | MODIFIER | c.3875-837A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167612 | |||||||
chr22:41167614 | A | G | 56 | a0001c0001t0001g0252 a0001c0002t0001g0056 a0001c0002t0001g0057 others(53): Show |
56 | HG00408.hp2 HG00423.hp1 HG00558.hp1 others(53): Show |
intron_variant | MODIFIER | c.3875-835A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167614 | |||||||
chr22:41167615 | T | A | 1 | a0001c0022t0001g0296 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.3875-834T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167615 | |||||||
chr22:41167618 | A | G | 1 | a0001c0001t0001g0254 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.3875-831A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167618 | |||||||
chr22:41167626 | A | G | 3 | a0002c0003t0002g0049 a0002c0003t0002g0050 a0002c0003t0002g0133 |
3 | HG03017.hp2 HG03490.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.3875-823A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167626 | |||||||
chr22:41167813 | T | TG | 4 | a0001c0001t0001g0286 a0002c0003t0002g0049 a0002c0003t0002g0147 others(1): Show |
4 | HG02965.hp2 HG03490.hp1 HG03710.hp1 others(1): Show |
intron_variant | MODIFIER | c.3875-635dupG | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167813 | ||||||
chr22:41167814 | G | GGT | 18 | a0001c0001t0004g0187 a0001c0002t0002g0164 a0001c0002t0002g0168 others(15): Show |
18 | HG00323.hp1 HG00597.hp1 HG00609.hp1 others(15): Show |
intron_variant | MODIFIER | c.3875-635_3875-634i others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167814 | |||||||
chr22:41167814 | G | GGTT | 16 | a0001c0002t0002g0141 a0001c0002t0002g0166 a0001c0002t0019g0102 others(13): Show |
16 | HG00099.hp2 HG00280.hp2 HG00733.hp2 others(13): Show |
intron_variant | MODIFIER | c.3875-635_3875-634i others(5): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167814 | |||||||
chr22:41167814 | G | GGTTT | 12 | a0002c0003t0002g0146 a0002c0003t0002g0148 a0002c0003t0002g0151 others(9): Show |
12 | HG00423.hp2 HG00738.hp1 HG01069.hp2 others(9): Show |
intron_variant | MODIFIER | c.3875-635_3875-634i others(6): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167814 | |||||||
chr22:41167814 | G | GGTTTGTT others(3): Show |
2 | a0001c0011t0009g0190 a0001c0011t0009g0191 |
2 | NA18980.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.3875-635_3875-634i others(12): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167814 | |||||||
chr22:41167814 | G | GGTTTT | 9 | a0001c0007t0009g0194 a0002c0003t0002g0137 a0002c0003t0002g0149 others(6): Show |
9 | HG00642.hp2 HG01106.hp2 HG01167.hp2 others(6): Show |
intron_variant | MODIFIER | c.3875-635_3875-634i others(7): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167814 | |||||||
chr22:41167814 | G | GGTTTTT | 6 | a0001c0001t0004g0188 a0001c0001t0004g0195 a0001c0002t0002g0165 others(3): Show |
6 | HG01943.hp1 HG02886.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.3875-635_3875-634i others(8): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167814 | |||||||
chr22:41167814 | G | GGTTTTTT others(4): Show |
1 | a0001c0001t0004g0196 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.3875-635_3875-634i others(13): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167814 | |||||||
chr22:41167814 | G | GGTTTTTT others(5): Show |
1 | a0002c0003t0002g0140 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.3875-635_3875-634i others(14): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167814 | |||||||
chr22:41167814 | G | GGTTTTTT others(9): Show |
1 | a0001c0001t0001g0285 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.3875-635_3875-634i others(18): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167814 | |||||||
chr22:41167814 | G | GGTTTTTT others(15): Show |
1 | a0001c0028t0004g0197 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.3875-635_3875-634i others(24): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167814 | |||||||
chr22:41167814 | GTTTTTTT others(4): Show |
G | 1 | a0002c0003t0002g0150 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.3875-634_3875-624d others(13): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167814 | |||||||
chr22:41167814 | GTTTTTTT others(6): Show |
G | 1 | a0001c0002t0002g0167 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.3875-623_3875-611d others(15): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167814 | ||||||
chr22:41167814 | GTTTTTTT others(13): Show |
G | 1 | a0001c0002t0029g0083 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.3875-623_3875-604d others(22): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167814 | ||||||
chr22:41167814 | GTTTTTTT others(15): Show |
G | 1 | a0001c0030t0004g0041 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.3875-623_3875-602d others(24): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167814 | ||||||
chr22:41167815 | T | G | 138 | a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 others(135): Show |
138 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(135): Show |
intron_variant | MODIFIER | c.3875-634T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167815 | |||||||
chr22:41167816 | T | G | 1 | a0001c0002t0003g0062 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.3875-633T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167816 | |||||||
chr22:41167818 | T | G | 2 | a0001c0006t0001g0046 a0001c0006t0001g0048 |
2 | HG02630.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.3875-631T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167818 | |||||||
chr22:41167818 | TTTTTTTT others(1): Show |
T | 18 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0024g0053 others(15): Show |
18 | HG00597.hp2 HG01934.hp2 HG02083.hp2 others(15): Show |
intron_variant | MODIFIER | c.3875-623_3875-616d others(10): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167818 | ||||||
chr22:41167819 | T | G | 4 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(1): Show |
4 | HG01891.hp1 HG02257.hp2 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.3875-630T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167819 | |||||||
chr22:41167819 | TTTTTTTG | T | 23 | a0001c0004t0001g0005 a0001c0004t0001g0006 a0001c0004t0001g0012 others(20): Show |
23 | HG00544.hp1 HG01884.hp1 HG02132.hp1 others(20): Show |
intron_variant | MODIFIER | c.3875-623_3875-617d others(9): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167819 | ||||||
chr22:41167820 | T | G | 2 | a0001c0001t0001g0294 a0001c0006t0001g0045 |
2 | HG02280.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.3875-629T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167820 | |||||||
chr22:41167820 | TTTTTTG | T | 40 | a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0120 others(37): Show |
40 | HG00140.hp1 HG00323.hp2 HG00423.hp1 others(37): Show |
intron_variant | MODIFIER | c.3875-623_3875-618d others(8): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167820 | ||||||
chr22:41167821 | TTTTTG | T | 28 | a0001c0002t0001g0087 a0001c0002t0001g0092 a0001c0002t0001g0097 others(25): Show |
28 | HG00408.hp2 HG00673.hp2 HG01169.hp1 others(25): Show |
intron_variant | MODIFIER | c.3875-623_3875-619d others(7): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167821 | ||||||
chr22:41167822 | TTTTG | T | 8 | a0001c0001t0001g0252 a0001c0002t0005g0121 a0001c0002t0015g0099 others(5): Show |
8 | HG01175.hp1 HG02258.hp2 HG02572.hp2 others(5): Show |
intron_variant | MODIFIER | c.3875-623_3875-620d others(6): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167822 | ||||||
chr22:41167825 | TG | T | 3 | a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0005t0006g0135 |
3 | HG02976.hp1 HG03225.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.3875-623delG | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167825 | |||||||
chr22:41167826 | G | GT | 24 | a0001c0001t0001g0205 a0001c0001t0001g0211 a0001c0001t0001g0213 others(21): Show |
24 | HG00140.hp2 HG00558.hp2 HG00735.hp1 others(21): Show |
intron_variant | MODIFIER | c.3875-598dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167826 | ||||||
chr22:41167826 | G | GTT | 7 | a0001c0001t0001g0235 a0001c0001t0001g0251 a0001c0001t0001g0269 others(4): Show |
7 | HG00735.hp2 HG01069.hp1 HG03139.hp2 others(4): Show |
intron_variant | MODIFIER | c.3875-599_3875-598d others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167826 | ||||||
chr22:41167826 | G | T | 72 | a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0004g0187 others(69): Show |
72 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(69): Show |
intron_variant | MODIFIER | c.3875-623G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167826 | |||||||
chr22:41167827 | T | G | 4 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(1): Show |
4 | HG01891.hp1 HG02257.hp2 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.3875-622T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167827 | |||||||
chr22:41167828 | T | G | 1 | a0001c0002t0002g0167 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.3875-621T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167828 | |||||||
chr22:41167834 | T | G | 1 | a0001c0006t0001g0045 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.3875-615T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167834 | |||||||
chr22:41167835 | T | G | 2 | a0001c0001t0001g0239 a0001c0002t0029g0083 |
2 | HG00639.hp2 HG00642.hp1 |
intron_variant | MODIFIER | c.3875-614T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167835 | |||||||
chr22:41167837 | T | G | 1 | a0001c0030t0004g0041 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.3875-612T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167837 | |||||||
chr22:41167838 | T | G | 2 | a0001c0001t0001g0257 a0001c0001t0001g0271 |
2 | HG01496.hp1 NA18992.hp2 |
intron_variant | MODIFIER | c.3875-611T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167838 | |||||||
chr22:41167841 | T | G | 1 | a0001c0001t0001g0265 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.3875-608T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167841 | |||||||
chr22:41167857 | A | G | 1 | a0001c0004t0001g0031 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.3875-592A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167857 | |||||||
chr22:41167865 | G | A | 6 | a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 others(3): Show |
6 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.3875-584G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167865 | |||||||
chr22:41167914 | C | T | 73 | a0001c0001t0001g0252 a0001c0002t0001g0056 a0001c0002t0001g0057 others(70): Show |
73 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(70): Show |
intron_variant | MODIFIER | c.3875-535C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167914 | |||||||
chr22:41167924 | C | A | 2 | a0001c0004t0001g0027 a0001c0004t0020g0017 |
2 | NA19054.hp1 NA19084.hp2 |
intron_variant | MODIFIER | c.3875-525C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167924 | |||||||
chr22:41167932 | G | T | 1 | a0001c0022t0001g0296 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.3875-517G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167932 | |||||||
chr22:41168168 | A | G | 2 | a0001c0001t0004g0272 a0001c0001t0004g0275 |
2 | HG02615.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.3875-281A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41168168 | |||||||
chr22:41168234 | G | A | 1 | a0009c0020t0001g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.3875-215G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41168234 | |||||||
chr22:41168283 | T | C | 57 | a0001c0002t0002g0141 a0001c0002t0002g0164 a0001c0002t0002g0165 others(54): Show |
57 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(54): Show |
intron_variant | MODIFIER | c.3875-166T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41168283 | |||||||
chr22:41168350 | G | A | 1 | a0001c0001t0001g0257 | 1 | NA18992.hp2 | intron_variant | MODIFIER | c.3875-99G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41168350 | |||||||
chr22:41168704 | C | A | 45 | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 others(42): Show |
45 | HG00099.hp1 HG00408.hp1 HG00544.hp2 others(42): Show |
intron_variant | MODIFIER | c.4026-17C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 24/30 | chr22 | 41168704 | |||||||
chr22:41168896 | G | A | 2 | a0001c0002t0001g0120 a0001c0002t0005g0127 |
2 | NA18947.hp1 NA18985.hp2 |
intron_variant | MODIFIER | c.4172+29G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 25/30 | chr22 | 41168896 | |||||||
chr22:41169047 | C | T | 9 | a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0195 others(6): Show |
9 | HG01175.hp2 HG02109.hp1 HG02886.hp2 others(6): Show |
intron_variant | MODIFIER | c.4172+180C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 25/30 | chr22 | 41169047 | |||||||
chr22:41169048 | G | A | 1 | a0009c0020t0001g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.4172+181G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 25/30 | chr22 | 41169048 | |||||||
chr22:41169168 | ATGTGAAA others(45): Show |
A | 1 | a0002c0003t0002g0171 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.4172+303_4173-282d others(54): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 25/30 | INFO_REALIGN_3_PRIME | chr22 | 41169168 | ||||||
chr22:41169242 | G | A | 2 | a0001c0001t0001g0209 a0001c0001t0001g0210 |
2 | HG00099.hp1 HG01433.hp1 |
intron_variant | MODIFIER | c.4173-261G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 25/30 | chr22 | 41169242 | |||||||
chr22:41169281 | A | G | 75 | a0001c0001t0001g0252 a0001c0002t0001g0018 a0001c0002t0001g0020 others(72): Show |
75 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(72): Show |
intron_variant | MODIFIER | c.4173-222A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 25/30 | chr22 | 41169281 | |||||||
chr22:41169427 | T | C | 1 | a0001c0021t0001g0298 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.4173-76T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 25/30 | chr22 | 41169427 | |||||||
chr22:41169434 | C | A | 1 | a0001c0004t0001g0022 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.4173-69C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 25/30 | chr22 | 41169434 | |||||||
chr22:41169649 | T | C | 7 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(4): Show |
7 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.4286+33T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 26/30 | chr22 | 41169649 | |||||||
chr22:41169774 | A | G | 2 | a0002c0003t0002g0049 a0002c0003t0002g0050 |
2 | HG03490.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.4286+158A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 26/30 | chr22 | 41169774 | |||||||
chr22:41169823 | A | G | 57 | a0001c0002t0002g0141 a0001c0002t0002g0164 a0001c0002t0002g0165 others(54): Show |
57 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(54): Show |
intron_variant | MODIFIER | c.4286+207A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 26/30 | chr22 | 41169823 | |||||||
chr22:41170310 | T | C | 1 | a0001c0010t0001g0201 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.4287-96T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 26/30 | chr22 | 41170310 | |||||||
chr22:41170591 | C | T | 57 | a0001c0002t0002g0141 a0001c0002t0002g0164 a0001c0002t0002g0165 others(54): Show |
57 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(54): Show |
intron_variant | MODIFIER | c.4452+20C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41170591 | |||||||
chr22:41170653 | C | CT | 66 | a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 others(63): Show |
66 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(63): Show |
intron_variant | MODIFIER | c.4452+108dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | INFO_REALIGN_3_PRIME | chr22 | 41170653 | ||||||
chr22:41170653 | C | CTT | 23 | a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 others(20): Show |
23 | HG01106.hp1 HG01109.hp2 HG01346.hp2 others(20): Show |
intron_variant | MODIFIER | c.4452+107_4452+108d others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | INFO_REALIGN_3_PRIME | chr22 | 41170653 | ||||||
chr22:41170653 | C | CTTT | 12 | a0001c0001t0001g0245 a0001c0002t0008g0124 a0001c0005t0006g0106 others(9): Show |
12 | HG02056.hp1 HG02145.hp2 HG02647.hp1 others(9): Show |
intron_variant | MODIFIER | c.4452+106_4452+108d others(5): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | INFO_REALIGN_3_PRIME | chr22 | 41170653 | ||||||
chr22:41170653 | CT | C | 53 | a0001c0002t0001g0097 a0001c0002t0002g0103 a0001c0002t0002g0141 others(50): Show |
53 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(50): Show |
intron_variant | MODIFIER | c.4452+108delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | INFO_REALIGN_3_PRIME | chr22 | 41170653 | ||||||
chr22:41170653 | CTTTT | C | 7 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(4): Show |
7 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.4452+105_4452+108d others(6): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | INFO_REALIGN_3_PRIME | chr22 | 41170653 | ||||||
chr22:41170653 | CTTTTTTT | C | 34 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0004t0001g0001 others(31): Show |
34 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(31): Show |
intron_variant | MODIFIER | c.4452+102_4452+108d others(9): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | INFO_REALIGN_3_PRIME | chr22 | 41170653 | ||||||
chr22:41170698 | G | C | 1 | a0001c0001t0001g0225 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.4452+127G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41170698 | |||||||
chr22:41170724 | C | T | 73 | a0001c0001t0001g0252 a0001c0002t0001g0056 a0001c0002t0001g0057 others(70): Show |
73 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(70): Show |
intron_variant | MODIFIER | c.4452+153C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41170724 | |||||||
chr22:41170819 | A | G | 184 | a0001c0001t0001g0234 a0001c0001t0001g0252 a0001c0002t0001g0018 others(181): Show |
184 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(181): Show |
intron_variant | MODIFIER | c.4452+248A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41170819 | |||||||
chr22:41170853 | C | T | 3 | a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 |
3 | HG02965.hp2 HG02976.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.4452+282C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41170853 | |||||||
chr22:41170864 | C | T | 297 | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 others(294): Show |
297 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(294): Show |
intron_variant | MODIFIER | c.4452+293C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41170864 | |||||||
chr22:41170865 | G | A | 1 | a0001c0001t0001g0276 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.4452+294G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41170865 | |||||||
chr22:41170870 | A | G | 3 | a0001c0006t0001g0045 a0001c0006t0001g0046 a0001c0006t0001g0047 |
3 | HG02486.hp1 HG02630.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.4452+299A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41170870 | |||||||
chr22:41170888 | C | G | 1 | a0002c0003t0002g0177 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.4452+317C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41170888 | |||||||
chr22:41170943 | A | G | 4 | a0001c0001t0001g0252 a0001c0001t0001g0271 a0001c0001t0001g0276 others(1): Show |
4 | HG01496.hp1 HG01934.hp1 HG02572.hp2 others(1): Show |
intron_variant | MODIFIER | c.4452+372A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41170943 | |||||||
chr22:41170954 | T | C | 1 | a0001c0001t0001g0237 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.4452+383T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41170954 | |||||||
chr22:41170962 | C | CT | 82 | a0001c0001t0001g0229 a0001c0001t0001g0252 a0001c0001t0001g0286 others(79): Show |
82 | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(79): Show |
intron_variant | MODIFIER | c.4452+407dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | INFO_REALIGN_3_PRIME | chr22 | 41170962 | ||||||
chr22:41170962 | CT | C | 12 | a0001c0001t0001g0260 a0001c0005t0006g0106 a0001c0005t0006g0107 others(9): Show |
12 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(9): Show |
intron_variant | MODIFIER | c.4452+407delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | INFO_REALIGN_3_PRIME | chr22 | 41170962 | ||||||
chr22:41171160 | G | A | 3 | a0002c0003t0002g0149 a0002c0003t0002g0157 a0002c0029t0002g0154 |
3 | HG00642.hp2 HG01070.hp1 HG01257.hp1 |
intron_variant | MODIFIER | c.4452+589G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41171160 | |||||||
chr22:41171269 | G | A | 1 | a0009c0020t0001g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.4452+698G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41171269 | |||||||
chr22:41171387 | G | A | 9 | a0001c0005t0006g0106 a0001c0005t0006g0107 a0001c0005t0006g0108 others(6): Show |
9 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.4452+816G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41171387 | |||||||
chr22:41171407 | G | T | 2 | a0001c0002t0003g0063 a0001c0002t0015g0117 |
2 | HG02602.hp1 HG04115.hp2 |
intron_variant | MODIFIER | c.4452+836G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41171407 | |||||||
chr22:41171509 | A | G | 5 | a0001c0009t0001g0199 a0001c0009t0001g0200 a0001c0010t0001g0201 others(2): Show |
5 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.4452+938A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41171509 | |||||||
chr22:41171531 | G | T | 276 | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 others(273): Show |
276 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(273): Show |
intron_variant | MODIFIER | c.4452+960G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41171531 | |||||||
chr22:41171633 | A | T | 8 | a0001c0002t0007g0072 a0001c0002t0011g0069 a0001c0002t0011g0098 others(5): Show |
8 | HG02083.hp1 NA18960.hp2 NA18986.hp1 others(5): Show |
intron_variant | MODIFIER | c.4453-866A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41171633 | |||||||
chr22:41171652 | C | CT | 6 | a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 others(3): Show |
6 | HG01099.hp1 HG02559.hp2 HG02965.hp2 others(3): Show |
intron_variant | MODIFIER | c.4453-835dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | INFO_REALIGN_3_PRIME | chr22 | 41171652 | ||||||
chr22:41171652 | CT | C | 11 | a0001c0002t0007g0072 a0001c0005t0006g0106 a0001c0005t0006g0107 others(8): Show |
11 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(8): Show |
intron_variant | MODIFIER | c.4453-835delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | INFO_REALIGN_3_PRIME | chr22 | 41171652 | ||||||
chr22:41171667 | A | G | 3 | a0002c0003t0002g0104 a0002c0003t0002g0160 a0002c0003t0002g0180 |
3 | HG01346.hp1 HG03688.hp2 HG04115.hp1 |
intron_variant | MODIFIER | c.4453-832A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41171667 | |||||||
chr22:41171669 | G | A | 1 | a0001c0002t0011g0086 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.4453-830G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41171669 | |||||||
chr22:41171718 | G | T | 197 | a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 others(194): Show |
197 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(194): Show |
intron_variant | MODIFIER | c.4453-781G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41171718 | |||||||
chr22:41171796 | A | G | 2 | a0001c0001t0001g0285 a0001c0022t0001g0296 |
2 | HG01099.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.4453-703A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41171796 | |||||||
chr22:41172138 | A | C | 1 | a0001c0005t0006g0106 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.4453-361A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41172138 | |||||||
chr22:41172181 | G | A | 4 | a0001c0001t0001g0219 a0001c0001t0001g0238 a0001c0001t0001g0241 others(1): Show |
4 | HG01106.hp1 HG01516.hp2 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.4453-318G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41172181 | |||||||
chr22:41172264 | A | T | 1 | a0007c0012t0014g0143 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.4453-235A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41172264 | |||||||
chr22:41172308 | T | C | 4 | a0001c0009t0001g0199 a0001c0009t0001g0200 a0001c0010t0001g0201 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.4453-191T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41172308 | |||||||
chr22:41172334 | A | G | 6 | a0001c0009t0001g0199 a0001c0009t0001g0200 a0001c0010t0001g0201 others(3): Show |
6 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.4453-165A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41172334 | |||||||
chr22:41172433 | T | G | 1 | a0001c0001t0004g0188 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.4453-66T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41172433 | |||||||
chr22:41172476 | T | C | 130 | a0001c0001t0001g0252 a0001c0002t0001g0056 a0001c0002t0001g0057 others(127): Show |
130 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(127): Show |
intron_variant | MODIFIER | c.4453-23T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41172476 | |||||||
chr22:41173000 | A | G | 4 | a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0259 others(1): Show |
4 | HG00140.hp2 HG01070.hp2 HG03490.hp2 others(1): Show |
intron_variant | MODIFIER | c.4617+337A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 28/30 | chr22 | 41173000 | |||||||
chr22:41173021 | C | A | 1 | a0002c0003t0002g0142 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.4617+358C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 28/30 | chr22 | 41173021 | |||||||
chr22:41173039 | A | G | 45 | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 others(42): Show |
45 | HG00099.hp1 HG00408.hp1 HG00544.hp2 others(42): Show |
intron_variant | MODIFIER | c.4617+376A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 28/30 | chr22 | 41173039 | |||||||
chr22:41173120 | T | C | 58 | a0001c0002t0002g0103 a0001c0002t0002g0141 a0001c0002t0002g0164 others(55): Show |
58 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(55): Show |
intron_variant | MODIFIER | c.4617+457T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 28/30 | chr22 | 41173120 | |||||||
chr22:41173138 | C | T | 1 | a0001c0005t0006g0110 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.4617+475C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 28/30 | chr22 | 41173138 | |||||||
chr22:41173297 | C | T | 1 | a0002c0003t0002g0169 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.4618-326C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 28/30 | chr22 | 41173297 | |||||||
chr22:41173314 | A | G | 5 | a0001c0002t0002g0141 a0001c0002t0002g0164 a0001c0002t0002g0165 others(2): Show |
5 | HG02280.hp1 HG02965.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.4618-309A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 28/30 | chr22 | 41173314 | |||||||
chr22:41173412 | A | G | 1 | a0002c0003t0002g0171 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.4618-211A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 28/30 | chr22 | 41173412 | |||||||
chr22:41173442 | G | A | 3 | a0001c0004t0001g0011 a0001c0004t0001g0015 a0001c0013t0001g0007 |
3 | HG02109.hp2 HG02145.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.4618-181G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 28/30 | chr22 | 41173442 | |||||||
chr22:41173492 | G | C | 1 | a0007c0012t0014g0143 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.4618-131G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 28/30 | chr22 | 41173492 | |||||||
chr22:41173496 | A | G | 1 | a0007c0012t0014g0143 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.4618-127A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 28/30 | chr22 | 41173496 | |||||||
chr22:41173572 | A | G | 1 | a0001c0022t0001g0296 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.4618-51A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 28/30 | chr22 | 41173572 | |||||||
chr22:41173605 | C | T | 66 | a0001c0002t0001g0070 a0001c0002t0001g0075 a0001c0002t0001g0115 others(63): Show |
66 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(63): Show |
intron_variant | MODIFIER | c.4618-18C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 28/30 | chr22 | 41173605 | |||||||
chr22:41173818 | G | A | 8 | a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 others(5): Show |
8 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(5): Show |
intron_variant | MODIFIER | c.4779+34G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41173818 | |||||||
chr22:41173882 | C | A | 8 | a0002c0003t0002g0136 a0002c0003t0002g0149 a0002c0003t0002g0150 others(5): Show |
8 | HG00323.hp1 HG00642.hp2 HG00733.hp2 others(5): Show |
intron_variant | MODIFIER | c.4779+98C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41173882 | |||||||
chr22:41173883 | G | A | 66 | a0001c0002t0001g0070 a0001c0002t0001g0075 a0001c0002t0001g0115 others(63): Show |
66 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(63): Show |
intron_variant | MODIFIER | c.4779+99G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41173883 | |||||||
chr22:41174067 | T | C | 180 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0070 others(177): Show |
180 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(177): Show |
intron_variant | MODIFIER | c.4779+283T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41174067 | |||||||
chr22:41174141 | C | CT | 58 | a0001c0002t0002g0103 a0001c0002t0002g0141 a0001c0002t0002g0164 others(55): Show |
58 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(55): Show |
intron_variant | MODIFIER | c.4779+358dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | INFO_REALIGN_3_PRIME | chr22 | 41174141 | ||||||
chr22:41174152 | C | T | 1 | a0011c0017t0003g0067 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.4779+368C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41174152 | |||||||
chr22:41174257 | G | A | 40 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0004t0001g0001 others(37): Show |
40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.4779+473G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41174257 | |||||||
chr22:41174274 | A | C | 1 | a0007c0012t0014g0143 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.4779+490A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41174274 | |||||||
chr22:41174563 | G | A | 2 | a0002c0003t0002g0171 a0002c0003t0032g0132 |
2 | HG01069.hp2 HG01496.hp2 |
intron_variant | MODIFIER | c.4779+779G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41174563 | |||||||
chr22:41174627 | A | G | 45 | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 others(42): Show |
45 | HG00099.hp1 HG00408.hp1 HG00544.hp2 others(42): Show |
intron_variant | MODIFIER | c.4779+843A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41174627 | |||||||
chr22:41174665 | A | G | 1 | a0001c0001t0001g0227 | 1 | NA18953.hp2 | intron_variant | MODIFIER | c.4779+881A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41174665 | |||||||
chr22:41174741 | T | C | 71 | a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0070 others(68): Show |
71 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(68): Show |
intron_variant | MODIFIER | c.4779+957T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41174741 | |||||||
chr22:41174799 | G | A | 2 | a0002c0003t0002g0156 a0002c0003t0002g0177 |
2 | HG00099.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.4779+1015G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41174799 | |||||||
chr22:41174953 | C | CAAGCAGA others(45): Show |
1 | a0002c0003t0002g0171 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.4779+1169_4779+117 others(56): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41174953 | |||||||
chr22:41175044 | G | A | 1 | a0001c0007t0001g0198 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.4780-1203G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41175044 | |||||||
chr22:41175055 | C | T | 1 | a0001c0004t0001g0027 | 1 | NA19054.hp1 | intron_variant | MODIFIER | c.4780-1192C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41175055 | |||||||
chr22:41175272 | G | GAC | 205 | a0001c0001t0001g0252 a0001c0001t0001g0285 a0001c0001t0001g0286 others(202): Show |
205 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(202): Show |
intron_variant | MODIFIER | c.4780-974_4780-973d others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | INFO_REALIGN_3_PRIME | chr22 | 41175272 | ||||||
chr22:41175275 | T | A | 7 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(4): Show |
7 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.4780-972T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41175275 | |||||||
chr22:41175276 | G | C | 7 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(4): Show |
7 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.4780-971G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41175276 | |||||||
chr22:41175279 | A | C | 1 | a0009c0020t0001g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.4780-968A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41175279 | |||||||
chr22:41175388 | G | T | 1 | a0002c0003t0014g0145 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.4780-859G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41175388 | |||||||
chr22:41175407 | T | G | 1 | a0002c0003t0002g0169 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.4780-840T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41175407 | |||||||
chr22:41175497 | A | C | 1 | a0001c0030t0004g0041 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.4780-750A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41175497 | |||||||
chr22:41175501 | T | G | 13 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0044 others(10): Show |
13 | HG01109.hp2 HG01891.hp1 HG02257.hp2 others(10): Show |
intron_variant | MODIFIER | c.4780-746T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41175501 | |||||||
chr22:41175764 | C | T | 1 | a0001c0002t0005g0121 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.4780-483C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41175764 | |||||||
chr22:41175855 | G | C | 1 | a0001c0002t0012g0129 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.4780-392G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41175855 | |||||||
chr22:41176118 | G | T | 6 | a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 others(3): Show |
6 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.4780-129G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41176118 | |||||||
chr22:41176537 | C | T | 8 | a0002c0003t0002g0136 a0002c0003t0002g0149 a0002c0003t0002g0150 others(5): Show |
8 | HG00323.hp1 HG00642.hp2 HG00733.hp2 others(5): Show |
intron_variant | MODIFIER | c.5061+9C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 30/30 | chr22 | 41176537 | |||||||
chr22:41176565 | C | T | 1 | a0001c0001t0001g0282 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.5061+37C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 30/30 | chr22 | 41176565 | |||||||
chr22:41176578 | T | C | 1 | a0001c0023t0001g0250 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.5061+50T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 30/30 | chr22 | 41176578 | |||||||
chr22:41176597 | G | A | 3 | a0001c0002t0005g0065 a0001c0002t0005g0093 a0001c0002t0005g0094 |
3 | NA18968.hp2 NA18998.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.5061+69G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 30/30 | chr22 | 41176597 | |||||||
chr22:41176597 | G | T | 1 | a0009c0020t0001g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.5061+69G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 30/30 | chr22 | 41176597 | |||||||
chr22:41176659 | A | AG | 3 | a0001c0007t0009g0192 a0001c0007t0009g0194 a0010c0014t0009g0193 |
3 | HG03139.hp1 HG03209.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.5062-113dupG | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 30/30 | INFO_REALIGN_3_PRIME | chr22 | 41176659 |