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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   ABCA7_chr19_1035107_1070572  ABCA7_chr19_1035107_1070572 (clean+top1000)

Multiple Alignments (by translate haplotype frequency)Multiple Alignments (by aa haplotype frequency) Multiple Alignments (by translate haplotype similarity)Multiple Alignments (by aa haplotype similarity)

Item Value
geneid 10347
ensemblid ENSG00000064687.13
hgncid 37
symbol ABCA7
name ATP binding cassette subfamily A member 7
refseq_nuc NM_019112.4
refseq_prot NP_061985.2
ensembl_nuc ENST00000263094.11
ensembl_prot ENSP00000263094.6
mane_status MANE Select
chr chr19
start 1040107
end 1065572
strand +
ver v1.2
region chr19:1040107-1065572
region5000 chr19:1035107-1070572
regionname0 ABCA7_chr19_1040107_1065572
regionname5000 ABCA7_chr19_1035107_1070572

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 1/0 2146 7 0 1 5 0 0 3 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0002 0/1 2146 4 0 0 0 2 1 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0003 0/0 2146 2 2 0 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0004 0/0 2146 2 1 0 1 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0005 0/0 2146 1 1 0 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0006 0/0 2146 1 1 0 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0007 0/0 2146 1 1 0 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0008 0/0 2146 1 0 0 1 0 0 1 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0009 0/0 2146 1 0 0 1 0 0 1 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0010 0/0 2146 1 1 0 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0011 0/0 2146 1 1 0 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0012 0/0 2146 1 0 0 1 0 0 1 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0013 0/0 2146 1 0 0 0 0 1 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0014 0/0 2146 1 0 0 1 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0015 0/0 2146 1 0 0 0 0 1 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0016 0/0 2146 1 0 0 1 0 0 1 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0017 0/0 2146 1 0 1 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0018 0/0 2146 1 0 0 1 0 0 1 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0019 0/0 2146 1 0 0 0 0 1 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 0/0 6441 5 0 1 4 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
c0002 1/0 6441 2 0 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
c0003 0/0 6441 2 0 0 0 1 1 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
c0004 0/0 6441 2 1 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
c0005 0/0 6441 2 2 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
c0006 0/0 6441 1 0 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
c0007 0/0 6441 1 0 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
c0008 0/0 6441 1 1 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
c0009 0/0 6441 1 0 0 0 1 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
c0010 0/0 6441 1 1 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
c0011 0/1 6441 1 0 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
c0012 0/0 6441 1 0 0 0 0 1 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
c0013 0/0 6441 1 0 0 0 0 1 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
c0014 0/0 6441 1 0 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
c0015 0/0 6441 1 0 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
c0016 0/0 6441 1 0 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
c0017 0/0 6441 1 0 1 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
c0018 0/0 6441 1 0 0 0 0 1 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
c0019 0/0 6441 1 0 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
c0020 0/0 6441 1 1 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
c0021 0/0 6441 1 1 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
c0022 0/0 6441 1 1 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 0/1 375 14 4 1 3 2 3 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
t0002 1/0 375 11 4 0 5 0 1 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
t0003 0/0 375 5 0 1 4 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 1 1 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
g0002 0/0 1 1 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
g0003 0/0 1 1 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
g0004 0/0 1 1 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
g0005 0/0 1 0 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
g0006 0/0 1 0 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
g0007 0/0 1 0 0 0 0 1 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
g0008 0/0 1 0 0 0 1 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
g0009 0/0 1 0 0 0 1 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
g0010 1/0 1 0 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
g0011 0/0 1 0 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
g0012 0/1 1 0 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
g0013 0/0 1 1 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
g0014 0/0 1 1 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
g0015 0/0 1 0 1 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
g0016 0/0 1 0 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
g0017 0/0 1 0 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
g0018 0/0 1 0 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
g0019 0/0 1 0 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
g0020 0/0 1 1 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
g0021 0/0 1 1 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
g0022 0/0 1 0 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
g0023 0/0 1 0 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
g0024 0/0 1 0 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
g0025 0/0 1 0 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
g0026 0/0 1 0 0 0 0 1 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
g0027 0/0 1 0 1 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
g0028 0/0 1 0 0 0 0 1 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
g0029 0/0 1 0 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
g0030 0/0 1 0 0 0 0 1 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 0/0 6441 5 0 1 4 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0001c0002 1/0 6441 2 0 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0002c0003 0/0 6441 2 0 0 0 1 1 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0002c0009 0/0 6441 1 0 0 0 1 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0002c0011 0/1 6441 1 0 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0003c0005 0/0 6441 2 2 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0004c0004 0/0 6441 2 1 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0005c0022 0/0 6441 1 1 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0006c0020 0/0 6441 1 1 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0007c0021 0/0 6441 1 1 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0008c0006 0/0 6441 1 0 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0009c0007 0/0 6441 1 0 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0010c0010 0/0 6441 1 1 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0011c0008 0/0 6441 1 1 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0012c0016 0/0 6441 1 0 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0013c0013 0/0 6441 1 0 0 0 0 1 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0014c0019 0/0 6441 1 0 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0015c0018 0/0 6441 1 0 0 0 0 1 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0016c0014 0/0 6441 1 0 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0017c0017 0/0 6441 1 0 1 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0018c0015 0/0 6441 1 0 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0019c0012 0/0 6441 1 0 0 0 0 1 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0003 0/0 6815 5 0 1 4 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0001c0002t0002 1/0 6815 2 0 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0002c0003t0001 0/0 6815 2 0 0 0 1 1 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0002c0009t0001 0/0 6815 1 0 0 0 1 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0002c0011t0001 0/1 6815 1 0 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0003c0005t0002 0/0 6815 2 2 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0004c0004t0001 0/0 6815 2 1 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0005c0022t0001 0/0 6815 1 1 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0006c0020t0002 0/0 6815 1 1 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0007c0021t0001 0/0 6815 1 1 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0008c0006t0002 0/0 6815 1 0 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0009c0007t0002 0/0 6815 1 0 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0010c0010t0001 0/0 6815 1 1 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0011c0008t0002 0/0 6815 1 1 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0012c0016t0001 0/0 6815 1 0 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0013c0013t0002 0/0 6815 1 0 0 0 0 1 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0014c0019t0002 0/0 6815 1 0 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0015c0018t0001 0/0 6815 1 0 0 0 0 1 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0016c0014t0002 0/0 6815 1 0 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0017c0017t0001 0/0 6815 1 0 1 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0018c0015t0001 0/0 6815 1 0 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572
a0019c0012t0001 0/0 6815 1 0 0 0 0 1 ABCA7_chr19_1035107_1070572 ABCA7 copy fasta chr19 1035107 1070572

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0003g0015 0/0 1 0 1 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
a0001c0001t0003g0016 0/0 1 0 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
a0001c0001t0003g0017 0/0 1 0 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
a0001c0001t0003g0018 0/0 1 0 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
a0001c0001t0003g0019 0/0 1 0 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
a0001c0002t0002g0010 1/0 1 0 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
a0001c0002t0002g0011 0/0 1 0 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
a0002c0003t0001g0007 0/0 1 0 0 0 0 1 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
a0002c0003t0001g0009 0/0 1 0 0 0 1 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
a0002c0009t0001g0008 0/0 1 0 0 0 1 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
a0002c0011t0001g0012 0/1 1 0 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
a0003c0005t0002g0002 0/0 1 1 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
a0003c0005t0002g0003 0/0 1 1 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
a0004c0004t0001g0021 0/0 1 1 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
a0004c0004t0001g0023 0/0 1 0 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
a0005c0022t0001g0004 0/0 1 1 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
a0006c0020t0002g0020 0/0 1 1 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
a0007c0021t0001g0001 0/0 1 1 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
a0008c0006t0002g0006 0/0 1 0 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
a0009c0007t0002g0005 0/0 1 0 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
a0010c0010t0001g0013 0/0 1 1 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
a0011c0008t0002g0014 0/0 1 1 0 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
a0012c0016t0001g0024 0/0 1 0 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
a0013c0013t0002g0030 0/0 1 0 0 0 0 1 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
a0014c0019t0002g0029 0/0 1 0 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
a0015c0018t0001g0028 0/0 1 0 0 0 0 1 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
a0016c0014t0002g0025 0/0 1 0 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
a0017c0017t0001g0027 0/0 1 0 1 0 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
a0018c0015t0001g0022 0/0 1 0 0 1 0 0 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
a0019c0012t0001g0026 0/0 1 0 0 0 0 1 ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00673 hp1 a0004 c0004 t0001 g0023 EAS CHS ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
HG00673 hp2 a0001 c0001 t0003 g0016 EAS CHS ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
HG01071 hp1 a0001 c0001 t0003 g0015 AMR PUR ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
HG01071 hp2 a0017 c0017 t0001 g0027 AMR PUR ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
HG02071 hp1 a0014 c0019 t0002 g0029 EAS KHV ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
HG02071 hp2 a0001 c0001 t0003 g0017 EAS KHV ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
HG02145 hp1 a0004 c0004 t0001 g0021 AFR ACB ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
HG02145 hp2 a0003 c0005 t0002 g0002 AFR ACB ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
HG02451 hp1 a0007 c0021 t0001 g0001 AFR ACB ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
HG02451 hp2 a0005 c0022 t0001 g0004 AFR ACB ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
HG02723 hp1 a0010 c0010 t0001 g0013 AFR GWD ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
HG02723 hp2 a0011 c0008 t0002 g0014 AFR GWD ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
HG02970 hp1 a0003 c0005 t0002 g0003 AFR ESN ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
HG02970 hp2 a0006 c0020 t0002 g0020 AFR ESN ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
HG03688 hp1 a0015 c0018 t0001 g0028 SAS STU ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
HG03688 hp2 a0019 c0012 t0001 g0026 SAS STU ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
NA18970 hp1 a0018 c0015 t0001 g0022 EAS JPT ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
NA18970 hp2 a0001 c0002 t0002 g0011 EAS JPT ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
NA18983 hp1 a0012 c0016 t0001 g0024 EAS JPT ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
NA18983 hp2 a0008 c0006 t0002 g0006 EAS JPT ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
NA19066 hp1 a0016 c0014 t0002 g0025 EAS JPT ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
NA19066 hp2 a0001 c0001 t0003 g0019 EAS JPT ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
NA19079 hp1 a0001 c0001 t0003 g0018 EAS JPT ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
NA19079 hp2 a0009 c0007 t0002 g0005 EAS JPT ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
NA20805 hp1 a0002 c0009 t0001 g0008 EUR TSI ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
NA20805 hp2 a0002 c0003 t0001 g0009 EUR TSI ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
NA20905 hp1 a0002 c0003 t0001 g0007 SAS GIH ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
NA20905 hp2 a0013 c0013 t0002 g0030 SAS GIH ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
homoSapiens_chm13v2 hp1 a0002 c0011 t0001 g0012 REF REF ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572
homoSapiens_grch38 hp1 a0001 c0002 t0002 g0010 REF REF ABCA7_chr19_1035107_1070572 ABCA7 chr19 1035107 1070572

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
chr19:1042810 A
A
 G
G
 9 a0004
a0012
a0013
others(6): Show 
a0004
a0012
a0013
a0014
a0015
a0016
a0017
a0018
a0019
 10 HG00673.hp1
HG01071.hp2
HG02071.hp1
others(7): Show 
HG00673.hp1
HG01071.hp2
HG02071.hp1
HG02145.hp1
HG03688.hp1
HG03688.hp2
NA18970.hp1
NA18983.hp1
NA19066.hp1
NA20905.hp2
 missense_variant MODERATE c.563A>G
c.563A>G
 p.Glu188Gly
p.Glu188Gly
 ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 7/47 790/6815 563/6441 188/2146 chr19 1042810
chr19:1043104 G
G
 A
A
 1 a0019
a0019
 1 HG03688.hp2
HG03688.hp2
 missense_variant MODERATE c.643G>A
c.643G>A
 p.Gly215Ser
p.Gly215Ser
 ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 8/47 870/6815 643/6441 215/2146 chr19 1043104
chr19:1043749 A
A
 G
G
 4 a0003
a0005
a0006
others(1): Show 
a0003
a0005
a0006
a0007
 5 HG02145.hp2
HG02451.hp1
HG02451.hp2
others(2): Show 
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02970.hp1
HG02970.hp2
 missense_variant MODERATE c.955A>G
c.955A>G
 p.Thr319Ala
p.Thr319Ala
 ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 10/47 1182/6815 955/6441 319/2146 chr19 1043749
chr19:1044713 A
A
 G
G
 4 a0003
a0005
a0006
others(1): Show 
a0003
a0005
a0006
a0007
 5 HG02145.hp2
HG02451.hp1
HG02451.hp2
others(2): Show 
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02970.hp1
HG02970.hp2
 missense_variant MODERATE c.1184A>G
c.1184A>G
 p.His395Arg
p.His395Arg
 ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 11/47 1411/6815 1184/6441 395/2146 chr19 1044713
chr19:1045027 C
C
 G
G
 2 a0003
a0007
a0003
a0007
 3 HG02145.hp2
HG02451.hp1
HG02970.hp1
HG02145.hp2
HG02451.hp1
HG02970.hp1
 missense_variant MODERATE c.1241C>G
c.1241C>G
 p.Ala414Gly
p.Ala414Gly
 ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 12/47 1468/6815 1241/6441 414/2146 chr19 1045027
chr19:1045174 G
G
 A
A
 2 a0008
a0009
a0008
a0009
 2 NA18983.hp2
NA19079.hp2
NA18983.hp2
NA19079.hp2
 missense_variant MODERATE c.1388G>A
c.1388G>A
 p.Arg463His
p.Arg463His
 ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 12/47 1615/6815 1388/6441 463/2146 chr19 1045174
chr19:1046405 G
G
 A
A
 1 a0005
a0005
 1 HG02451.hp2
HG02451.hp2
 missense_variant&splice_region_variant MODERATE c.1621G>A
c.1621G>A
 p.Val541Met
p.Val541Met
 ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 13/47 1848/6815 1621/6441 541/2146 chr19 1046405
chr19:1047538 A
A
 C
C
 2 a0008
a0009
a0008
a0009
 2 NA18983.hp2
NA19079.hp2
NA18983.hp2
NA19079.hp2
 missense_variant MODERATE c.2153A>C
c.2153A>C
 p.Asn718Thr
p.Asn718Thr
 ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 16/47 2380/6815 2153/6441 718/2146 chr19 1047538
chr19:1049394 A
A
 C
C
 1 a0012
a0012
 1 NA18983.hp1
NA18983.hp1
 missense_variant MODERATE c.2509A>C
c.2509A>C
 p.Thr837Pro
p.Thr837Pro
 ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/47 2736/6815 2509/6441 837/2146 chr19 1049394
chr19:1049397 G
G
 A
A
 1 a0018
a0018
 1 NA18970.hp1
NA18970.hp1
 missense_variant MODERATE c.2512G>A
c.2512G>A
 p.Ala838Thr
p.Ala838Thr
 ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/47 2739/6815 2512/6441 838/2146 chr19 1049397
chr19:1050997 G
G
 A
A
 1 a0017
a0017
 1 HG01071.hp2
HG01071.hp2
 missense_variant MODERATE c.2629G>A
c.2629G>A
 p.Ala877Thr
p.Ala877Thr
 ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 19/47 2856/6815 2629/6441 877/2146 chr19 1050997
chr19:1051487 G
G
 T
T
 1 a0010
a0010
 1 HG02723.hp1
HG02723.hp1
 missense_variant MODERATE c.2863G>T
c.2863G>T
 p.Val955Leu
p.Val955Leu
 ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 21/47 3090/6815 2863/6441 955/2146 chr19 1051487
chr19:1051488 T
T
 G
G
 1 a0010
a0010
 1 HG02723.hp1
HG02723.hp1
 missense_variant MODERATE c.2864T>G
c.2864T>G
 p.Val955Gly
p.Val955Gly
 ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 21/47 3091/6815 2864/6441 955/2146 chr19 1051488
chr19:1055192 G
G
 A
A
 6 a0002
a0004
a0007
others(3): Show 
a0002
a0004
a0007
a0012
a0013
a0018
 10 HG00673.hp1
HG02145.hp1
HG02451.hp1
others(7): Show 
HG00673.hp1
HG02145.hp1
HG02451.hp1
NA18970.hp1
NA18983.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.4046G>A
c.4046G>A
 p.Arg1349Gln
p.Arg1349Gln
 ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 30/47 4273/6815 4046/6441 1349/2146 chr19 1055192
chr19:1056493 G
G
 C
C
 17 a0002
a0003
a0004
others(14): Show 
a0002
a0003
a0004
a0005
a0006
a0007
a0008
a0010
a0011
a0012
a0013
a0014
a0015
a0016
a0017
a0018
a0019
 22 HG00673.hp1
HG01071.hp2
HG02071.hp1
others(19): Show 
HG00673.hp1
HG01071.hp2
HG02071.hp1
HG02145.hp1
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02723.hp1
HG02723.hp2
HG02970.hp1
HG02970.hp2
HG03688.hp1
HG03688.hp2
NA18970.hp1
NA18983.hp1
NA18983.hp2
NA19066.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.4580G>C
c.4580G>C
 p.Gly1527Ala
p.Gly1527Ala
 ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 33/47 4807/6815 4580/6441 1527/2146 chr19 1056493
chr19:1058177 A
A
 G
G
 2 a0008
a0016
a0008
a0016
 2 NA18983.hp2
NA19066.hp1
NA18983.hp2
NA19066.hp1
 missense_variant MODERATE c.5057A>G
c.5057A>G
 p.Gln1686Arg
p.Gln1686Arg
 ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 37/47 5284/6815 5057/6441 1686/2146 chr19 1058177
chr19:1058860 G
G
 A
A
 1 a0009
a0009
 1 NA19079.hp2
NA19079.hp2
 missense_variant MODERATE c.5320G>A
c.5320G>A
 p.Glu1774Lys
p.Glu1774Lys
 ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 39/47 5547/6815 5320/6441 1774/2146 chr19 1058860
chr19:1065019 G
G
 T
T
 10 a0002
a0004
a0005
others(7): Show 
a0002
a0004
a0005
a0007
a0010
a0012
a0015
a0017
a0018
a0019
 14 HG00673.hp1
HG01071.hp2
HG02145.hp1
others(11): Show 
HG00673.hp1
HG01071.hp2
HG02145.hp1
HG02451.hp1
HG02451.hp2
HG02723.hp1
HG03688.hp1
HG03688.hp2
NA18970.hp1
NA18983.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.6133G>T
c.6133G>T
 p.Ala2045Ser
p.Ala2045Ser
 ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 46/47 6360/6815 6133/6441 2045/2146 chr19 1065019

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
chr19:1041853 G
G
 T
T
 4 a0003c0005
a0005c0022
a0006c0020
others(1): Show 
a0003c0005
a0005c0022
a0006c0020
a0007c0021
 5 HG02145.hp2
HG02451.hp1
HG02451.hp2
others(2): Show 
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02970.hp1
HG02970.hp2
 synonymous_variant LOW c.183G>T
c.183G>T
 p.Leu61Leu
p.Leu61Leu
 ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 4/47 410/6815 183/6441 61/2146 chr19 1041853
chr19:1043184 C
C
 T
T
 1 a0005c0022
a0005c0022
 1 HG02451.hp2
HG02451.hp2
 synonymous_variant LOW c.723C>T
c.723C>T
 p.Tyr241Tyr
p.Tyr241Tyr
 ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 8/47 950/6815 723/6441 241/2146 chr19 1043184
chr19:1047003 A
A
 G
G
 14 a0001c0001
a0002c0011
a0003c0005
others(11): Show 
a0001c0001
a0002c0011
a0003c0005
a0004c0004
a0005c0022
a0006c0020
a0007c0021
a0012c0016
a0014c0019
a0015c0018
a0016c0014
a0017c0017
a0018c0015
a0019c0012
 20 HG00673.hp1
HG00673.hp2
HG01071.hp1
others(17): Show 
HG00673.hp1
HG00673.hp2
HG01071.hp1
HG01071.hp2
HG02071.hp1
HG02071.hp2
HG02145.hp1
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02970.hp1
HG02970.hp2
HG03688.hp1
HG03688.hp2
NA18970.hp1
NA18983.hp1
NA19066.hp1
NA19066.hp2
NA19079.hp1
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.1824A>G
c.1824A>G
 p.Ala608Ala
p.Ala608Ala
 ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 14/47 2051/6815 1824/6441 608/2146 chr19 1047003
chr19:1047162 A
A
 G
G
 15 a0001c0001
a0002c0011
a0003c0005
others(12): Show 
a0001c0001
a0002c0011
a0003c0005
a0004c0004
a0005c0022
a0006c0020
a0007c0021
a0012c0016
a0013c0013
a0014c0019
a0015c0018
a0016c0014
a0017c0017
a0018c0015
a0019c0012
 21 HG00673.hp1
HG00673.hp2
HG01071.hp1
others(18): Show 
HG00673.hp1
HG00673.hp2
HG01071.hp1
HG01071.hp2
HG02071.hp1
HG02071.hp2
HG02145.hp1
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02970.hp1
HG02970.hp2
HG03688.hp1
HG03688.hp2
NA18970.hp1
NA18983.hp1
NA19066.hp1
NA19066.hp2
NA19079.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.1851A>G
c.1851A>G
 p.Gly617Gly
p.Gly617Gly
 ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 15/47 2078/6815 1851/6441 617/2146 chr19 1047162
chr19:1047318 G
G
 A
A
 1 a0008c0006
a0008c0006
 1 NA18983.hp2
NA18983.hp2
 synonymous_variant LOW c.2007G>A
c.2007G>A
 p.Leu669Leu
p.Leu669Leu
 ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 15/47 2234/6815 2007/6441 669/2146 chr19 1047318
chr19:1049270 G
G
 A
A
 6 a0001c0001
a0003c0005
a0005c0022
others(3): Show 
a0001c0001
a0003c0005
a0005c0022
a0007c0021
a0013c0013
a0016c0014
 11 HG00673.hp2
HG01071.hp1
HG02071.hp2
others(8): Show 
HG00673.hp2
HG01071.hp1
HG02071.hp2
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02970.hp1
NA19066.hp1
NA19066.hp2
NA19079.hp1
NA20905.hp2
 synonymous_variant LOW c.2385G>A
c.2385G>A
 p.Leu795Leu
p.Leu795Leu
 ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/47 2612/6815 2385/6441 795/2146 chr19 1049270
chr19:1049306 C
C
 A
A
 3 a0004c0004
a0012c0016
a0018c0015
a0004c0004
a0012c0016
a0018c0015
 4 HG00673.hp1
HG02145.hp1
NA18970.hp1
others(1): Show 
HG00673.hp1
HG02145.hp1
NA18970.hp1
NA18983.hp1
 synonymous_variant LOW c.2421C>A
c.2421C>A
 p.Val807Val
p.Val807Val
 ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/47 2648/6815 2421/6441 807/2146 chr19 1049306
chr19:1051191 G
G
 C
C
 1 a0016c0014
a0016c0014
 1 NA19066.hp1
NA19066.hp1
 synonymous_variant LOW c.2721G>C
c.2721G>C
 p.Arg907Arg
p.Arg907Arg
 ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 20/47 2948/6815 2721/6441 907/2146 chr19 1051191
chr19:1051215 A
A
 G
G
 9 a0003c0005
a0005c0022
a0006c0020
others(6): Show 
a0003c0005
a0005c0022
a0006c0020
a0007c0021
a0010c0010
a0014c0019
a0015c0018
a0017c0017
a0019c0012
 10 HG01071.hp2
HG02071.hp1
HG02145.hp2
others(7): Show 
HG01071.hp2
HG02071.hp1
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02723.hp1
HG02970.hp1
HG02970.hp2
HG03688.hp1
HG03688.hp2
 synonymous_variant LOW c.2745A>G
c.2745A>G
 p.Val915Val
p.Val915Val
 ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 20/47 2972/6815 2745/6441 915/2146 chr19 1051215
chr19:1051489 G
G
 T
T
 1 a0010c0010
a0010c0010
 1 HG02723.hp1
HG02723.hp1
 synonymous_variant LOW c.2865G>T
c.2865G>T
 p.Val955Val
p.Val955Val
 ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 21/47 3092/6815 2865/6441 955/2146 chr19 1051489
chr19:1052006 C
C
 T
T
 7 a0002c0003
a0002c0009
a0002c0011
others(4): Show 
a0002c0003
a0002c0009
a0002c0011
a0004c0004
a0012c0016
a0013c0013
a0018c0015
 9 HG00673.hp1
HG02145.hp1
NA18970.hp1
others(6): Show 
HG00673.hp1
HG02145.hp1
NA18970.hp1
NA18983.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.3027C>T
c.3027C>T
 p.Ala1009Ala
p.Ala1009Ala
 ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 22/47 3254/6815 3027/6441 1009/2146 chr19 1052006
chr19:1052087 G
G
 A
A
 2 a0010c0010
a0011c0008
a0010c0010
a0011c0008
 2 HG02723.hp1
HG02723.hp2
HG02723.hp1
HG02723.hp2
 synonymous_variant LOW c.3108G>A
c.3108G>A
 p.Thr1036Thr
p.Thr1036Thr
 ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 22/47 3335/6815 3108/6441 1036/2146 chr19 1052087
chr19:1053525 C
C
 G
G
 5 a0002c0003
a0008c0006
a0009c0007
others(2): Show 
a0002c0003
a0008c0006
a0009c0007
a0013c0013
a0016c0014
 6 NA18983.hp2
NA19066.hp1
NA19079.hp2
others(3): Show 
NA18983.hp2
NA19066.hp1
NA19079.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
 synonymous_variant LOW c.3417C>G
c.3417C>G
 p.Leu1139Leu
p.Leu1139Leu
 ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 24/47 3644/6815 3417/6441 1139/2146 chr19 1053525
chr19:1054061 A
A
 G
G
 12 a0002c0003
a0002c0009
a0002c0011
others(9): Show 
a0002c0003
a0002c0009
a0002c0011
a0003c0005
a0004c0004
a0005c0022
a0007c0021
a0010c0010
a0011c0008
a0012c0016
a0013c0013
a0018c0015
 15 HG00673.hp1
HG02145.hp1
HG02145.hp2
others(12): Show 
HG00673.hp1
HG02145.hp1
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02723.hp1
HG02723.hp2
HG02970.hp1
NA18970.hp1
NA18983.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.3528A>G
c.3528A>G
 p.Leu1176Leu
p.Leu1176Leu
 ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 26/47 3755/6815 3528/6441 1176/2146 chr19 1054061
chr19:1056066 A
A
 G
G
 11 a0002c0003
a0002c0009
a0002c0011
others(8): Show 
a0002c0003
a0002c0009
a0002c0011
a0003c0005
a0004c0004
a0005c0022
a0007c0021
a0010c0010
a0012c0016
a0013c0013
a0018c0015
 14 HG00673.hp1
HG02145.hp1
HG02145.hp2
others(11): Show 
HG00673.hp1
HG02145.hp1
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02723.hp1
HG02970.hp1
NA18970.hp1
NA18983.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 splice_region_variant&synonymous_variant LOW c.4239A>G
c.4239A>G
 p.Arg1413Arg
p.Arg1413Arg
 ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 32/47 4466/6815 4239/6441 1413/2146 chr19 1056066
chr19:1056228 T
T
 C
C
 2 a0005c0022
a0010c0010
a0005c0022
a0010c0010
 2 HG02451.hp2
HG02723.hp1
HG02451.hp2
HG02723.hp1
 synonymous_variant LOW c.4401T>C
c.4401T>C
 p.Ala1467Ala
p.Ala1467Ala
 ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 32/47 4628/6815 4401/6441 1467/2146 chr19 1056228
chr19:1056422 G
G
 A
A
 2 a0005c0022
a0010c0010
a0005c0022
a0010c0010
 2 HG02451.hp2
HG02723.hp1
HG02451.hp2
HG02723.hp1
 synonymous_variant LOW c.4509G>A
c.4509G>A
 p.Pro1503Pro
p.Pro1503Pro
 ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 33/47 4736/6815 4509/6441 1503/2146 chr19 1056422
chr19:1061805 T
T
 C
C
 1 a0013c0013
a0013c0013
 1 NA20905.hp2
NA20905.hp2
 synonymous_variant LOW c.5487T>C
c.5487T>C
 p.Asn1829Asn
p.Asn1829Asn
 ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 41/47 5714/6815 5487/6441 1829/2146 chr19 1061805
chr19:1061874 G
G
 A
A
 1 a0015c0018
a0015c0018
 1 HG03688.hp1
HG03688.hp1
 synonymous_variant LOW c.5556G>A
c.5556G>A
 p.Val1852Val
p.Val1852Val
 ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 41/47 5783/6815 5556/6441 1852/2146 chr19 1061874
chr19:1062193 T
T
 C
C
 2 a0008c0006
a0016c0014
a0008c0006
a0016c0014
 2 NA18983.hp2
NA19066.hp1
NA18983.hp2
NA19066.hp1
 synonymous_variant LOW c.5592T>C
c.5592T>C
 p.Ala1864Ala
p.Ala1864Ala
 ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 42/47 5819/6815 5592/6441 1864/2146 chr19 1062193
chr19:1064194 G
G
 A
A
 13 a0002c0003
a0002c0009
a0002c0011
others(10): Show 
a0002c0003
a0002c0009
a0002c0011
a0004c0004
a0005c0022
a0007c0021
a0010c0010
a0012c0016
a0014c0019
a0015c0018
a0017c0017
a0018c0015
a0019c0012
 15 HG00673.hp1
HG01071.hp2
HG02071.hp1
others(12): Show 
HG00673.hp1
HG01071.hp2
HG02071.hp1
HG02145.hp1
HG02451.hp1
HG02451.hp2
HG02723.hp1
HG03688.hp1
HG03688.hp2
NA18970.hp1
NA18983.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.5985G>A
c.5985G>A
 p.Leu1995Leu
p.Leu1995Leu
 ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 45/47 6212/6815 5985/6441 1995/2146 chr19 1064194
chr19:1065045 C
C
 T
T
 3 a0015c0018
a0017c0017
a0019c0012
a0015c0018
a0017c0017
a0019c0012
 3 HG01071.hp2
HG03688.hp1
HG03688.hp2
HG01071.hp2
HG03688.hp1
HG03688.hp2
 synonymous_variant LOW c.6159C>T
c.6159C>T
 p.Gly2053Gly
p.Gly2053Gly
 ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 46/47 6386/6815 6159/6441 2053/2146 chr19 1065045

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
chr19:1041353 A
A
 G
G
 1 a0001c0001t0003
a0001c0001t0003
 5 HG00673.hp2
HG01071.hp1
HG02071.hp2
others(2): Show 
HG00673.hp2
HG01071.hp1
HG02071.hp2
NA19066.hp2
NA19079.hp1
 5_prime_UTR_variant MODIFIER c.-9A>G
c.-9A>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 2/47 9 chr19 1041353
chr19:1065564 G
G
 C
C
 12 a0002c0003t0001
a0002c0009t0001
a0002c0011t0001
others(9): Show 
a0002c0003t0001
a0002c0009t0001
a0002c0011t0001
a0004c0004t0001
a0005c0022t0001
a0007c0021t0001
a0010c0010t0001
a0012c0016t0001
a0015c0018t0001
a0017c0017t0001
a0018c0015t0001
a0019c0012t0001
 14 HG00673.hp1
HG01071.hp2
HG02145.hp1
others(11): Show 
HG00673.hp1
HG01071.hp2
HG02145.hp1
HG02451.hp1
HG02451.hp2
HG02723.hp1
HG03688.hp1
HG03688.hp2
NA18970.hp1
NA18983.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*139G>C
c.*139G>C
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 47/47 139 chr19 1065564

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
chr19:1040383 G
G
 A
A
 4 a0003c0005t0002g0002
a0003c0005t0002g0003
a0005c0022t0001g0004
others(1): Show 
a0003c0005t0002g0002
a0003c0005t0002g0003
a0005c0022t0001g0004
a0007c0021t0001g0001
 4 HG02145.hp2
HG02451.hp1
HG02451.hp2
others(1): Show 
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02970.hp1
 intron_variant MODIFIER c.-138+187G>A
c.-138+187G>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 1/46 chr19 1040383
chr19:1040721 G
G
 T
T
 1 a0005c0022t0001g0004
a0005c0022t0001g0004
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.-137-504G>T
c.-137-504G>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 1/46 chr19 1040721
chr19:1040745 C
C
 G
G
 3 a0003c0005t0002g0002
a0003c0005t0002g0003
a0007c0021t0001g0001
a0003c0005t0002g0002
a0003c0005t0002g0003
a0007c0021t0001g0001
 3 HG02145.hp2
HG02451.hp1
HG02970.hp1
HG02145.hp2
HG02451.hp1
HG02970.hp1
 intron_variant MODIFIER c.-137-480C>G
c.-137-480C>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 1/46 chr19 1040745
chr19:1040766 A
A
 G
G
 10 a0004c0004t0001g0021
a0004c0004t0001g0023
a0012c0016t0001g0024
others(7): Show 
a0004c0004t0001g0021
a0004c0004t0001g0023
a0012c0016t0001g0024
a0013c0013t0002g0030
a0014c0019t0002g0029
a0015c0018t0001g0028
a0016c0014t0002g0025
a0017c0017t0001g0027
a0018c0015t0001g0022
a0019c0012t0001g0026
 10 HG00673.hp1
HG01071.hp2
HG02071.hp1
others(7): Show 
HG00673.hp1
HG01071.hp2
HG02071.hp1
HG02145.hp1
HG03688.hp1
HG03688.hp2
NA18970.hp1
NA18983.hp1
NA19066.hp1
NA20905.hp2
 intron_variant MODIFIER c.-137-459A>G
c.-137-459A>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 1/46 chr19 1040766
chr19:1040774 A
A
 G
G
 5 a0003c0005t0002g0002
a0003c0005t0002g0003
a0005c0022t0001g0004
others(2): Show 
a0003c0005t0002g0002
a0003c0005t0002g0003
a0005c0022t0001g0004
a0006c0020t0002g0020
a0007c0021t0001g0001
 5 HG02145.hp2
HG02451.hp1
HG02451.hp2
others(2): Show 
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02970.hp1
HG02970.hp2
 intron_variant MODIFIER c.-137-451A>G
c.-137-451A>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 1/46 chr19 1040774
chr19:1040965 TG
TG
 T
T
 5 a0003c0005t0002g0002
a0003c0005t0002g0003
a0005c0022t0001g0004
others(2): Show 
a0003c0005t0002g0002
a0003c0005t0002g0003
a0005c0022t0001g0004
a0006c0020t0002g0020
a0007c0021t0001g0001
 5 HG02145.hp2
HG02451.hp1
HG02451.hp2
others(2): Show 
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02970.hp1
HG02970.hp2
 intron_variant MODIFIER c.-137-255delG
c.-137-255delG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 1/46 INFO_REALIGN_3_PRIME chr19 1040965
chr19:1041165 C
C
 T
T
 5 a0003c0005t0002g0002
a0003c0005t0002g0003
a0005c0022t0001g0004
others(2): Show 
a0003c0005t0002g0002
a0003c0005t0002g0003
a0005c0022t0001g0004
a0006c0020t0002g0020
a0007c0021t0001g0001
 5 HG02145.hp2
HG02451.hp1
HG02451.hp2
others(2): Show 
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02970.hp1
HG02970.hp2
 intron_variant MODIFIER c.-137-60C>T
c.-137-60C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 1/46 chr19 1041165
chr19:1042416 A
A
 AC
AC
 2 a0004c0004t0001g0021
a0009c0007t0002g0005
a0004c0004t0001g0021
a0009c0007t0002g0005
 2 HG02145.hp1
NA19079.hp2
HG02145.hp1
NA19079.hp2
 intron_variant MODIFIER c.498+21dupC
c.498+21dupC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 6/46 INFO_REALIGN_3_PRIME chr19 1042416
chr19:1042555 G
G
 T
T
 3 a0003c0005t0002g0002
a0003c0005t0002g0003
a0007c0021t0001g0001
a0003c0005t0002g0002
a0003c0005t0002g0003
a0007c0021t0001g0001
 3 HG02145.hp2
HG02451.hp1
HG02970.hp1
HG02145.hp2
HG02451.hp1
HG02970.hp1
 intron_variant MODIFIER c.498+158G>T
c.498+158G>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 6/46 chr19 1042555
chr19:1042660 G
G
 A
A
 1 a0005c0022t0001g0004
a0005c0022t0001g0004
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.499-86G>A
c.499-86G>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 6/46 chr19 1042660
chr19:1042851 C
C
 T
T
 5 a0003c0005t0002g0002
a0003c0005t0002g0003
a0005c0022t0001g0004
others(2): Show 
a0003c0005t0002g0002
a0003c0005t0002g0003
a0005c0022t0001g0004
a0006c0020t0002g0020
a0007c0021t0001g0001
 5 HG02145.hp2
HG02451.hp1
HG02451.hp2
others(2): Show 
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02970.hp1
HG02970.hp2
 intron_variant MODIFIER c.579+25C>T
c.579+25C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 7/46 chr19 1042851
chr19:1043639 C
C
 T
T
 10 a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0017
others(7): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0017
a0001c0001t0003g0018
a0001c0001t0003g0019
a0003c0005t0002g0002
a0003c0005t0002g0003
a0005c0022t0001g0004
a0006c0020t0002g0020
a0007c0021t0001g0001
 10 HG00673.hp2
HG01071.hp1
HG02071.hp2
others(7): Show 
HG00673.hp2
HG01071.hp1
HG02071.hp2
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02970.hp1
HG02970.hp2
NA19066.hp2
NA19079.hp1
 intron_variant MODIFIER c.931-86C>T
c.931-86C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 9/46 chr19 1043639
chr19:1043865 G
G
 C
C
 9 a0004c0004t0001g0021
a0004c0004t0001g0023
a0012c0016t0001g0024
others(6): Show 
a0004c0004t0001g0021
a0004c0004t0001g0023
a0012c0016t0001g0024
a0014c0019t0002g0029
a0015c0018t0001g0028
a0016c0014t0002g0025
a0017c0017t0001g0027
a0018c0015t0001g0022
a0019c0012t0001g0026
 9 HG00673.hp1
HG01071.hp2
HG02071.hp1
others(6): Show 
HG00673.hp1
HG01071.hp2
HG02071.hp1
HG02145.hp1
HG03688.hp1
HG03688.hp2
NA18970.hp1
NA18983.hp1
NA19066.hp1
 intron_variant MODIFIER c.1047+24G>C
c.1047+24G>C
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 10/46 chr19 1043865
chr19:1043932 C
C
 T
T
 1 a0006c0020t0002g0020
a0006c0020t0002g0020
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.1047+91C>T
c.1047+91C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 10/46 chr19 1043932
chr19:1043937 C
C
 CT
CT
 6 a0001c0001t0003g0019
a0003c0005t0002g0002
a0003c0005t0002g0003
others(3): Show 
a0001c0001t0003g0019
a0003c0005t0002g0002
a0003c0005t0002g0003
a0006c0020t0002g0020
a0007c0021t0001g0001
a0013c0013t0002g0030
 6 HG02145.hp2
HG02451.hp1
HG02970.hp1
others(3): Show 
HG02145.hp2
HG02451.hp1
HG02970.hp1
HG02970.hp2
NA19066.hp2
NA20905.hp2
 intron_variant MODIFIER c.1047+114dupT
c.1047+114dupT
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 10/46 INFO_REALIGN_3_PRIME chr19 1043937
chr19:1043979 C
C
 G
G
 1 a0006c0020t0002g0020
a0006c0020t0002g0020
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.1047+138C>G
c.1047+138C>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 10/46 chr19 1043979
chr19:1044097 C
C
 T
T
 4 a0003c0005t0002g0002
a0003c0005t0002g0003
a0005c0022t0001g0004
others(1): Show 
a0003c0005t0002g0002
a0003c0005t0002g0003
a0005c0022t0001g0004
a0007c0021t0001g0001
 4 HG02145.hp2
HG02451.hp1
HG02451.hp2
others(1): Show 
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02970.hp1
 intron_variant MODIFIER c.1047+256C>T
c.1047+256C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 10/46 chr19 1044097
chr19:1044238 CT
CT
 C
C
 5 a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
others(2): Show 
a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
a0008c0006t0002g0006
a0013c0013t0002g0030
 5 NA18983.hp2
NA20805.hp1
NA20805.hp2
others(2): Show 
NA18983.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.1048-314delT
c.1048-314delT
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 10/46 INFO_REALIGN_3_PRIME chr19 1044238
chr19:1044262 T
T
 A
A
 3 a0004c0004t0001g0023
a0012c0016t0001g0024
a0018c0015t0001g0022
a0004c0004t0001g0023
a0012c0016t0001g0024
a0018c0015t0001g0022
 3 HG00673.hp1
NA18970.hp1
NA18983.hp1
HG00673.hp1
NA18970.hp1
NA18983.hp1
 intron_variant MODIFIER c.1048-315T>A
c.1048-315T>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 10/46 chr19 1044262
chr19:1044308 C
C
 T
T
 1 a0006c0020t0002g0020
a0006c0020t0002g0020
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.1048-269C>T
c.1048-269C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 10/46 chr19 1044308
chr19:1044329 C
C
 T
T
 5 a0014c0019t0002g0029
a0015c0018t0001g0028
a0016c0014t0002g0025
others(2): Show 
a0014c0019t0002g0029
a0015c0018t0001g0028
a0016c0014t0002g0025
a0017c0017t0001g0027
a0019c0012t0001g0026
 5 HG01071.hp2
HG02071.hp1
HG03688.hp1
others(2): Show 
HG01071.hp2
HG02071.hp1
HG03688.hp1
HG03688.hp2
NA19066.hp1
 intron_variant MODIFIER c.1048-248C>T
c.1048-248C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 10/46 chr19 1044329
chr19:1044754 T
T
 C
C
 18 a0001c0001t0003g0015
a0003c0005t0002g0002
a0003c0005t0002g0003
others(15): Show 
a0001c0001t0003g0015
a0003c0005t0002g0002
a0003c0005t0002g0003
a0004c0004t0001g0021
a0004c0004t0001g0023
a0005c0022t0001g0004
a0006c0020t0002g0020
a0007c0021t0001g0001
a0008c0006t0002g0006
a0009c0007t0002g0005
a0012c0016t0001g0024
a0013c0013t0002g0030
a0014c0019t0002g0029
a0015c0018t0001g0028
a0016c0014t0002g0025
a0017c0017t0001g0027
a0018c0015t0001g0022
a0019c0012t0001g0026
 18 HG00673.hp1
HG01071.hp1
HG01071.hp2
others(15): Show 
HG00673.hp1
HG01071.hp1
HG01071.hp2
HG02071.hp1
HG02145.hp1
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02970.hp1
HG02970.hp2
HG03688.hp1
HG03688.hp2
NA18970.hp1
NA18983.hp1
NA18983.hp2
NA19066.hp1
NA19079.hp2
NA20905.hp2
 intron_variant MODIFIER c.1215+10T>C
c.1215+10T>C
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 11/46 chr19 1044754
chr19:1044923 C
C
 T
T
 1 a0005c0022t0001g0004
a0005c0022t0001g0004
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.1216-79C>T
c.1216-79C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 11/46 chr19 1044923
chr19:1044976 C
C
 G
G
 1 a0013c0013t0002g0030
a0013c0013t0002g0030
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.1216-26C>G
c.1216-26C>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 11/46 chr19 1044976
chr19:1045374 C
C
 T
T
 2 a0010c0010t0001g0013
a0011c0008t0002g0014
a0010c0010t0001g0013
a0011c0008t0002g0014
 2 HG02723.hp1
HG02723.hp2
HG02723.hp1
HG02723.hp2
 intron_variant MODIFIER c.1445+143C>T
c.1445+143C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 12/46 chr19 1045374
chr19:1045569 T
T
 A
A
 4 a0004c0004t0001g0021
a0004c0004t0001g0023
a0012c0016t0001g0024
others(1): Show 
a0004c0004t0001g0021
a0004c0004t0001g0023
a0012c0016t0001g0024
a0018c0015t0001g0022
 4 HG00673.hp1
HG02145.hp1
NA18970.hp1
others(1): Show 
HG00673.hp1
HG02145.hp1
NA18970.hp1
NA18983.hp1
 intron_variant MODIFIER c.1445+338T>A
c.1445+338T>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 12/46 chr19 1045569
chr19:1045666 G
G
 C
C
 1 a0004c0004t0001g0021
a0004c0004t0001g0021
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.1445+435G>C
c.1445+435G>C
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 12/46 chr19 1045666
chr19:1045766 T
T
 C
C
 18 a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0017
others(15): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0017
a0001c0001t0003g0018
a0001c0001t0003g0019
a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
a0003c0005t0002g0002
a0003c0005t0002g0003
a0005c0022t0001g0004
a0006c0020t0002g0020
a0007c0021t0001g0001
a0008c0006t0002g0006
a0009c0007t0002g0005
a0010c0010t0001g0013
a0011c0008t0002g0014
a0013c0013t0002g0030
 18 HG00673.hp2
HG01071.hp1
HG02071.hp2
others(15): Show 
HG00673.hp2
HG01071.hp1
HG02071.hp2
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02723.hp1
HG02723.hp2
HG02970.hp1
HG02970.hp2
NA18983.hp2
NA19066.hp2
NA19079.hp1
NA19079.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.1446-464T>C
c.1446-464T>C
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 12/46 chr19 1045766
chr19:1045817 G
G
 A
A
 2 a0010c0010t0001g0013
a0011c0008t0002g0014
a0010c0010t0001g0013
a0011c0008t0002g0014
 2 HG02723.hp1
HG02723.hp2
HG02723.hp1
HG02723.hp2
 intron_variant MODIFIER c.1446-413G>A
c.1446-413G>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 12/46 chr19 1045817
chr19:1045863 C
C
 T
T
 1 a0006c0020t0002g0020
a0006c0020t0002g0020
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.1446-367C>T
c.1446-367C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 12/46 chr19 1045863
chr19:1045974 TCCAG
TCCAG
 T
T
 5 a0014c0019t0002g0029
a0015c0018t0001g0028
a0016c0014t0002g0025
others(2): Show 
a0014c0019t0002g0029
a0015c0018t0001g0028
a0016c0014t0002g0025
a0017c0017t0001g0027
a0019c0012t0001g0026
 5 HG01071.hp2
HG02071.hp1
HG03688.hp1
others(2): Show 
HG01071.hp2
HG02071.hp1
HG03688.hp1
HG03688.hp2
NA19066.hp1
 intron_variant MODIFIER c.1446-253_1446-250d
others(6): Show 
c.1446-253_1446-250delAGCC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 12/46 INFO_REALIGN_3_PRIME chr19 1045974
chr19:1045986 G
G
 T
T
 1 a0013c0013t0002g0030
a0013c0013t0002g0030
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.1446-244G>T
c.1446-244G>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 12/46 chr19 1045986
chr19:1046040 C
C
 T
T
 5 a0003c0005t0002g0002
a0003c0005t0002g0003
a0005c0022t0001g0004
others(2): Show 
a0003c0005t0002g0002
a0003c0005t0002g0003
a0005c0022t0001g0004
a0006c0020t0002g0020
a0007c0021t0001g0001
 5 HG02145.hp2
HG02451.hp1
HG02451.hp2
others(2): Show 
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02970.hp1
HG02970.hp2
 intron_variant MODIFIER c.1446-190C>T
c.1446-190C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 12/46 chr19 1046040
chr19:1046521 T
T
 G
G
 11 a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0017
others(8): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0017
a0001c0001t0003g0018
a0001c0001t0003g0019
a0003c0005t0002g0002
a0003c0005t0002g0003
a0005c0022t0001g0004
a0006c0020t0002g0020
a0007c0021t0001g0001
a0016c0014t0002g0025
 11 HG00673.hp2
HG01071.hp1
HG02071.hp2
others(8): Show 
HG00673.hp2
HG01071.hp1
HG02071.hp2
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02970.hp1
HG02970.hp2
NA19066.hp1
NA19066.hp2
NA19079.hp1
 intron_variant MODIFIER c.1622+115T>G
c.1622+115T>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 13/46 chr19 1046521
chr19:1046580 TG
TG
 T
T
 7 a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0017
others(4): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0017
a0001c0001t0003g0018
a0001c0001t0003g0019
a0016c0014t0002g0025
a0018c0015t0001g0022
 7 HG00673.hp2
HG01071.hp1
HG02071.hp2
others(4): Show 
HG00673.hp2
HG01071.hp1
HG02071.hp2
NA18970.hp1
NA19066.hp1
NA19066.hp2
NA19079.hp1
 intron_variant MODIFIER c.1622+184delG
c.1622+184delG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 13/46 INFO_REALIGN_3_PRIME chr19 1046580
chr19:1046749 A
A
 AG
AG
 6 a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0017
others(3): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0017
a0001c0001t0003g0019
a0004c0004t0001g0021
a0016c0014t0002g0025
 6 HG00673.hp2
HG01071.hp1
HG02071.hp2
others(3): Show 
HG00673.hp2
HG01071.hp1
HG02071.hp2
HG02145.hp1
NA19066.hp1
NA19066.hp2
 intron_variant MODIFIER c.1623-46dupG
c.1623-46dupG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 13/46 INFO_REALIGN_3_PRIME chr19 1046749
chr19:1047040 C
C
 T
T
 1 a0009c0007t0002g0005
a0009c0007t0002g0005
 1 NA19079.hp2
NA19079.hp2
 intron_variant MODIFIER c.1845+16C>T
c.1845+16C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 14/46 chr19 1047040
chr19:1047079 A
A
 G
G
 11 a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0017
others(8): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0017
a0001c0001t0003g0018
a0001c0001t0003g0019
a0003c0005t0002g0002
a0003c0005t0002g0003
a0005c0022t0001g0004
a0006c0020t0002g0020
a0007c0021t0001g0001
a0016c0014t0002g0025
 11 HG00673.hp2
HG01071.hp1
HG02071.hp2
others(8): Show 
HG00673.hp2
HG01071.hp1
HG02071.hp2
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02970.hp1
HG02970.hp2
NA19066.hp1
NA19066.hp2
NA19079.hp1
 intron_variant MODIFIER c.1845+55A>G
c.1845+55A>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 14/46 chr19 1047079
chr19:1047688 C
C
 G
G
 6 a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0017
others(3): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0017
a0001c0001t0003g0018
a0001c0001t0003g0019
a0016c0014t0002g0025
 6 HG00673.hp2
HG01071.hp1
HG02071.hp2
others(3): Show 
HG00673.hp2
HG01071.hp1
HG02071.hp2
NA19066.hp1
NA19066.hp2
NA19079.hp1
 intron_variant MODIFIER c.2269+34C>G
c.2269+34C>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 16/46 chr19 1047688
chr19:1047716 G
G
 C
C
 1 a0008c0006t0002g0006
a0008c0006t0002g0006
 1 NA18983.hp2
NA18983.hp2
 intron_variant MODIFIER c.2269+62G>C
c.2269+62G>C
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 16/46 chr19 1047716
chr19:1047761 C
C
 A
A
 1 a0005c0022t0001g0004
a0005c0022t0001g0004
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.2269+107C>A
c.2269+107C>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 16/46 chr19 1047761
chr19:1047813 G
G
 T
T
 4 a0003c0005t0002g0002
a0003c0005t0002g0003
a0005c0022t0001g0004
others(1): Show 
a0003c0005t0002g0002
a0003c0005t0002g0003
a0005c0022t0001g0004
a0007c0021t0001g0001
 4 HG02145.hp2
HG02451.hp1
HG02451.hp2
others(1): Show 
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02970.hp1
 intron_variant MODIFIER c.2269+159G>T
c.2269+159G>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 16/46 chr19 1047813
chr19:1047868 C
C
 T
T
 1 a0006c0020t0002g0020
a0006c0020t0002g0020
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.2269+214C>T
c.2269+214C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 16/46 chr19 1047868
chr19:1047873 T
T
 A
A
 1 a0006c0020t0002g0020
a0006c0020t0002g0020
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.2269+219T>A
c.2269+219T>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 16/46 chr19 1047873
chr19:1047995 G
G
 C
C
 1 a0004c0004t0001g0023
a0004c0004t0001g0023
 1 HG00673.hp1
HG00673.hp1
 intron_variant MODIFIER c.2269+341G>C
c.2269+341G>C
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 16/46 chr19 1047995
chr19:1047996 C
C
 G
G
 1 a0004c0004t0001g0023
a0004c0004t0001g0023
 1 HG00673.hp1
HG00673.hp1
 intron_variant MODIFIER c.2269+342C>G
c.2269+342C>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 16/46 chr19 1047996
chr19:1048022 A
A
 G
G
 11 a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0017
others(8): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0017
a0001c0001t0003g0018
a0001c0001t0003g0019
a0003c0005t0002g0002
a0003c0005t0002g0003
a0005c0022t0001g0004
a0006c0020t0002g0020
a0007c0021t0001g0001
a0016c0014t0002g0025
 11 HG00673.hp2
HG01071.hp1
HG02071.hp2
others(8): Show 
HG00673.hp2
HG01071.hp1
HG02071.hp2
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02970.hp1
HG02970.hp2
NA19066.hp1
NA19066.hp2
NA19079.hp1
 intron_variant MODIFIER c.2269+368A>G
c.2269+368A>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 16/46 chr19 1048022
chr19:1048052 G
G
 T
T
 10 a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0017
others(7): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0017
a0001c0001t0003g0018
a0001c0001t0003g0019
a0003c0005t0002g0002
a0003c0005t0002g0003
a0005c0022t0001g0004
a0007c0021t0001g0001
a0016c0014t0002g0025
 10 HG00673.hp2
HG01071.hp1
HG02071.hp2
others(7): Show 
HG00673.hp2
HG01071.hp1
HG02071.hp2
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02970.hp1
NA19066.hp1
NA19066.hp2
NA19079.hp1
 intron_variant MODIFIER c.2269+398G>T
c.2269+398G>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 16/46 chr19 1048052
chr19:1048117 G
G
 A
A
 6 a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0017
others(3): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0017
a0001c0001t0003g0018
a0001c0001t0003g0019
a0016c0014t0002g0025
 6 HG00673.hp2
HG01071.hp1
HG02071.hp2
others(3): Show 
HG00673.hp2
HG01071.hp1
HG02071.hp2
NA19066.hp1
NA19066.hp2
NA19079.hp1
 intron_variant MODIFIER c.2269+463G>A
c.2269+463G>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 16/46 chr19 1048117
chr19:1048191 TA
TA
 T
T
 12 a0001c0001t0003g0015
a0001c0001t0003g0017
a0002c0003t0001g0007
others(9): Show 
a0001c0001t0003g0015
a0001c0001t0003g0017
a0002c0003t0001g0007
a0002c0011t0001g0012
a0004c0004t0001g0023
a0005c0022t0001g0004
a0006c0020t0002g0020
a0012c0016t0001g0024
a0015c0018t0001g0028
a0016c0014t0002g0025
a0017c0017t0001g0027
a0018c0015t0001g0022
 12 HG00673.hp1
HG01071.hp1
HG01071.hp2
others(9): Show 
HG00673.hp1
HG01071.hp1
HG01071.hp2
HG02071.hp2
HG02451.hp2
HG02970.hp2
HG03688.hp1
NA18970.hp1
NA18983.hp1
NA19066.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2269+558delA
c.2269+558delA
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 16/46 INFO_REALIGN_3_PRIME chr19 1048191
chr19:1048191 TAA
TAA
 T
T
 3 a0002c0003t0001g0009
a0002c0009t0001g0008
a0014c0019t0002g0029
a0002c0003t0001g0009
a0002c0009t0001g0008
a0014c0019t0002g0029
 3 HG02071.hp1
NA20805.hp1
NA20805.hp2
HG02071.hp1
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.2269+557_2269+558d
others(4): Show 
c.2269+557_2269+558delAA
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 16/46 INFO_REALIGN_3_PRIME chr19 1048191
chr19:1048193 A
A
 T
T
 1 a0006c0020t0002g0020
a0006c0020t0002g0020
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.2269+539A>T
c.2269+539A>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 16/46 chr19 1048193
chr19:1048264 G
G
 C
C
 2 a0008c0006t0002g0006
a0009c0007t0002g0005
a0008c0006t0002g0006
a0009c0007t0002g0005
 2 NA18983.hp2
NA19079.hp2
NA18983.hp2
NA19079.hp2
 intron_variant MODIFIER c.2269+610G>C
c.2269+610G>C
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 16/46 chr19 1048264
chr19:1048394 G
G
 A
A
 10 a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0017
others(7): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0017
a0001c0001t0003g0018
a0001c0001t0003g0019
a0003c0005t0002g0002
a0003c0005t0002g0003
a0005c0022t0001g0004
a0007c0021t0001g0001
a0016c0014t0002g0025
 10 HG00673.hp2
HG01071.hp1
HG02071.hp2
others(7): Show 
HG00673.hp2
HG01071.hp1
HG02071.hp2
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02970.hp1
NA19066.hp1
NA19066.hp2
NA19079.hp1
 intron_variant MODIFIER c.2270-501G>A
c.2270-501G>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 16/46 chr19 1048394
chr19:1048470 T
T
 G
G
 1 a0005c0022t0001g0004
a0005c0022t0001g0004
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.2270-425T>G
c.2270-425T>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 16/46 chr19 1048470
chr19:1048496 C
C
 CAAAAAAA
others(7): Show 
CAAAAAAAAAAAAAA
 1 a0005c0022t0001g0004
a0005c0022t0001g0004
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.2270-386_2270-385i
others(16): Show 
c.2270-386_2270-385insAAAAAAAAAAAAAA
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 16/46 INFO_REALIGN_3_PRIME chr19 1048496
chr19:1048496 C
C
 CAAAAAAA
others(3): Show 
CAAAAAAAAGA
 2 a0003c0005t0002g0002
a0003c0005t0002g0003
a0003c0005t0002g0002
a0003c0005t0002g0003
 2 HG02145.hp2
HG02970.hp1
HG02145.hp2
HG02970.hp1
 intron_variant MODIFIER c.2270-391_2270-390i
others(12): Show 
c.2270-391_2270-390insGAAAAAAAAA
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 16/46 INFO_REALIGN_3_PRIME chr19 1048496
chr19:1048506 AAAAC
AAAAC
 A
A
 5 a0001c0001t0003g0015
a0001c0001t0003g0017
a0001c0001t0003g0018
others(2): Show 
a0001c0001t0003g0015
a0001c0001t0003g0017
a0001c0001t0003g0018
a0001c0001t0003g0019
a0016c0014t0002g0025
 5 HG01071.hp1
HG02071.hp2
NA19066.hp1
others(2): Show 
HG01071.hp1
HG02071.hp2
NA19066.hp1
NA19066.hp2
NA19079.hp1
 intron_variant MODIFIER c.2270-385_2270-382d
others(6): Show 
c.2270-385_2270-382delCAAA
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 16/46 INFO_REALIGN_3_PRIME chr19 1048506
chr19:1048509 AC
AC
 A
A
 3 a0015c0018t0001g0028
a0017c0017t0001g0027
a0019c0012t0001g0026
a0015c0018t0001g0028
a0017c0017t0001g0027
a0019c0012t0001g0026
 3 HG01071.hp2
HG03688.hp1
HG03688.hp2
HG01071.hp2
HG03688.hp1
HG03688.hp2
 intron_variant MODIFIER c.2270-385delC
c.2270-385delC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 16/46 chr19 1048509
chr19:1048510 C
C
 A
A
 15 a0002c0003t0001g0009
a0002c0009t0001g0008
a0002c0011t0001g0012
others(12): Show 
a0002c0003t0001g0009
a0002c0009t0001g0008
a0002c0011t0001g0012
a0003c0005t0002g0002
a0003c0005t0002g0003
a0004c0004t0001g0021
a0004c0004t0001g0023
a0005c0022t0001g0004
a0007c0021t0001g0001
a0008c0006t0002g0006
a0009c0007t0002g0005
a0012c0016t0001g0024
a0013c0013t0002g0030
a0014c0019t0002g0029
a0018c0015t0001g0022
 15 HG00673.hp1
HG02071.hp1
HG02145.hp1
others(12): Show 
HG00673.hp1
HG02071.hp1
HG02145.hp1
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02970.hp1
NA18970.hp1
NA18983.hp1
NA18983.hp2
NA19079.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2270-385C>A
c.2270-385C>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 16/46 chr19 1048510
chr19:1048663 T
T
 G
G
 24 a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0017
others(21): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0017
a0001c0001t0003g0018
a0001c0001t0003g0019
a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
a0002c0011t0001g0012
a0003c0005t0002g0002
a0003c0005t0002g0003
a0004c0004t0001g0021
a0004c0004t0001g0023
a0005c0022t0001g0004
a0006c0020t0002g0020
a0007c0021t0001g0001
a0012c0016t0001g0024
a0013c0013t0002g0030
a0014c0019t0002g0029
a0015c0018t0001g0028
a0016c0014t0002g0025
a0017c0017t0001g0027
a0018c0015t0001g0022
a0019c0012t0001g0026
 24 HG00673.hp1
HG00673.hp2
HG01071.hp1
others(21): Show 
HG00673.hp1
HG00673.hp2
HG01071.hp1
HG01071.hp2
HG02071.hp1
HG02071.hp2
HG02145.hp1
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02970.hp1
HG02970.hp2
HG03688.hp1
HG03688.hp2
NA18970.hp1
NA18983.hp1
NA19066.hp1
NA19066.hp2
NA19079.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2270-232T>G
c.2270-232T>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 16/46 chr19 1048663
chr19:1048692 C
C
 T
T
 3 a0001c0001t0003g0018
a0001c0001t0003g0019
a0016c0014t0002g0025
a0001c0001t0003g0018
a0001c0001t0003g0019
a0016c0014t0002g0025
 3 NA19066.hp1
NA19066.hp2
NA19079.hp1
NA19066.hp1
NA19066.hp2
NA19079.hp1
 intron_variant MODIFIER c.2270-203C>T
c.2270-203C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 16/46 chr19 1048692
chr19:1048808 C
C
 CA
CA
 7 a0001c0001t0003g0015
a0001c0001t0003g0017
a0001c0001t0003g0018
others(4): Show 
a0001c0001t0003g0015
a0001c0001t0003g0017
a0001c0001t0003g0018
a0004c0004t0001g0021
a0010c0010t0001g0013
a0012c0016t0001g0024
a0019c0012t0001g0026
 7 HG01071.hp1
HG02071.hp2
HG02145.hp1
others(4): Show 
HG01071.hp1
HG02071.hp2
HG02145.hp1
HG02723.hp1
HG03688.hp2
NA18983.hp1
NA19079.hp1
 intron_variant MODIFIER c.2270-72dupA
c.2270-72dupA
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 16/46 INFO_REALIGN_3_PRIME chr19 1048808
chr19:1048823 AC
AC
 A
A
 3 a0003c0005t0002g0002
a0005c0022t0001g0004
a0007c0021t0001g0001
a0003c0005t0002g0002
a0005c0022t0001g0004
a0007c0021t0001g0001
 3 HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02145.hp2
HG02451.hp1
HG02451.hp2
 intron_variant MODIFIER c.2270-71delC
c.2270-71delC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 16/46 chr19 1048823
chr19:1048824 C
C
 A
A
 5 a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0017
others(2): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0017
a0001c0001t0003g0018
a0001c0001t0003g0019
 5 HG00673.hp2
HG01071.hp1
HG02071.hp2
others(2): Show 
HG00673.hp2
HG01071.hp1
HG02071.hp2
NA19066.hp2
NA19079.hp1
 intron_variant MODIFIER c.2270-71C>A
c.2270-71C>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 16/46 chr19 1048824
chr19:1048829 C
C
 A
A
 3 a0003c0005t0002g0002
a0003c0005t0002g0003
a0007c0021t0001g0001
a0003c0005t0002g0002
a0003c0005t0002g0003
a0007c0021t0001g0001
 3 HG02145.hp2
HG02451.hp1
HG02970.hp1
HG02145.hp2
HG02451.hp1
HG02970.hp1
 intron_variant MODIFIER c.2270-66C>A
c.2270-66C>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 16/46 chr19 1048829
chr19:1048833 A
A
 C
C
 1 a0005c0022t0001g0004
a0005c0022t0001g0004
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.2270-62A>C
c.2270-62A>C
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 16/46 chr19 1048833
chr19:1048840 G
G
 A
A
 1 a0009c0007t0002g0005
a0009c0007t0002g0005
 1 NA19079.hp2
NA19079.hp2
 intron_variant MODIFIER c.2270-55G>A
c.2270-55G>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 16/46 chr19 1048840
chr19:1049013 A
A
 C
C
 26 a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0017
others(23): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0017
a0001c0001t0003g0018
a0001c0001t0003g0019
a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
a0002c0011t0001g0012
a0003c0005t0002g0002
a0003c0005t0002g0003
a0004c0004t0001g0021
a0004c0004t0001g0023
a0005c0022t0001g0004
a0006c0020t0002g0020
a0007c0021t0001g0001
a0010c0010t0001g0013
a0011c0008t0002g0014
a0012c0016t0001g0024
a0013c0013t0002g0030
a0014c0019t0002g0029
a0015c0018t0001g0028
a0016c0014t0002g0025
a0017c0017t0001g0027
a0018c0015t0001g0022
a0019c0012t0001g0026
 26 HG00673.hp1
HG00673.hp2
HG01071.hp1
others(23): Show 
HG00673.hp1
HG00673.hp2
HG01071.hp1
HG01071.hp2
HG02071.hp1
HG02071.hp2
HG02145.hp1
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02723.hp1
HG02723.hp2
HG02970.hp1
HG02970.hp2
HG03688.hp1
HG03688.hp2
NA18970.hp1
NA18983.hp1
NA19066.hp1
NA19066.hp2
NA19079.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 splice_region_variant&intron_variant LOW c.2380+8A>C
c.2380+8A>C
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 17/46 chr19 1049013
chr19:1049165 C
C
 T
T
 1 a0006c0020t0002g0020
a0006c0020t0002g0020
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.2381-101C>T
c.2381-101C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 17/46 chr19 1049165
chr19:1049166 C
C
 T
T
 15 a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0017
others(12): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0017
a0001c0001t0003g0018
a0001c0001t0003g0019
a0002c0011t0001g0012
a0003c0005t0002g0002
a0003c0005t0002g0003
a0004c0004t0001g0021
a0004c0004t0001g0023
a0005c0022t0001g0004
a0007c0021t0001g0001
a0012c0016t0001g0024
a0016c0014t0002g0025
a0018c0015t0001g0022
 15 HG00673.hp1
HG00673.hp2
HG01071.hp1
others(12): Show 
HG00673.hp1
HG00673.hp2
HG01071.hp1
HG02071.hp2
HG02145.hp1
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02970.hp1
NA18970.hp1
NA18983.hp1
NA19066.hp1
NA19066.hp2
NA19079.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2381-100C>T
c.2381-100C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 17/46 chr19 1049166
chr19:1049230 A
A
 C
C
 1 a0004c0004t0001g0023
a0004c0004t0001g0023
 1 HG00673.hp1
HG00673.hp1
 intron_variant MODIFIER c.2381-36A>C
c.2381-36A>C
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 17/46 chr19 1049230
chr19:1049231 T
T
 A
A
 1 a0004c0004t0001g0023
a0004c0004t0001g0023
 1 HG00673.hp1
HG00673.hp1
 intron_variant MODIFIER c.2381-35T>A
c.2381-35T>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 17/46 chr19 1049231
chr19:1049467 G
G
 GGCC
GGCC
 2 a0009c0007t0002g0005
a0016c0014t0002g0025
a0009c0007t0002g0005
a0016c0014t0002g0025
 2 NA19066.hp1
NA19079.hp2
NA19066.hp1
NA19079.hp2
 intron_variant MODIFIER c.2552+30_2552+31ins
others(3): Show 
c.2552+30_2552+31insGCC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049467
chr19:1049467 G
G
 GGCCCCCC
others(202): Show 
GGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTG
AACCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGTG
AGCCCCCCGACCGCTCCCTCCCTTTGAGCCCCCCCGGACCACTCCCTCCC
TGTGAGTTCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTCC
CTGTGAGCCC
 1 a0008c0006t0002g0006
a0008c0006t0002g0006
 1 NA18983.hp2
NA18983.hp2
 intron_variant MODIFIER c.2552+30_2552+31ins
others(209): Show 
c.2552+30_2552+31insGCCCCCCACCACTCCCTCCCCGTGAACCCC
CCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCC
CCACCACTCCCTCCCCGTGAGCCCCCCGACCGCTCCCTCCCTTTGAGCCC
CCCCGGACCACTCCCTCCCTGTGAGTTCCCCACCACTCCCTCCCTGTGAG
CCCCCCCACCACTCCCTCCCTGTGAGCCC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049467
chr19:1049472 C
C
 A
A
 3 a0008c0006t0002g0006
a0009c0007t0002g0005
a0016c0014t0002g0025
a0008c0006t0002g0006
a0009c0007t0002g0005
a0016c0014t0002g0025
 3 NA18983.hp2
NA19066.hp1
NA19079.hp2
NA18983.hp2
NA19066.hp1
NA19079.hp2
 intron_variant MODIFIER c.2552+35C>A
c.2552+35C>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049472
chr19:1049472 C
C
 CCA
CCA
 10 a0001c0001t0003g0016
a0001c0001t0003g0017
a0002c0011t0001g0012
others(7): Show 
a0001c0001t0003g0016
a0001c0001t0003g0017
a0002c0011t0001g0012
a0004c0004t0001g0021
a0004c0004t0001g0023
a0014c0019t0002g0029
a0015c0018t0001g0028
a0017c0017t0001g0027
a0018c0015t0001g0022
a0019c0012t0001g0026
 10 HG00673.hp1
HG00673.hp2
HG01071.hp2
others(7): Show 
HG00673.hp1
HG00673.hp2
HG01071.hp2
HG02071.hp1
HG02071.hp2
HG02145.hp1
HG03688.hp1
HG03688.hp2
NA18970.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2552+36_2552+37ins
others(2): Show 
c.2552+36_2552+37insAC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049472
chr19:1049472 C
C
 CCACCACT
others(98): Show 
CCACCACTCCCTCCCCGTGAGGCCCCCACCACTCCCTCCCCGTGAACCCC
CCCACCACTCCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCC
CCCCCA
 1 a0012c0016t0001g0024
a0012c0016t0001g0024
 1 NA18983.hp1
NA18983.hp1
 intron_variant MODIFIER c.2552+36_2552+37ins
others(105): Show 
c.2552+36_2552+37insACCACTCCCTCCCCGTGAGGCCCCCACCAC
TCCCTCCCCGTGAACCCCCCCACCACTCCCCTCCCCGTGAACCCCCCACC
ACTCCCTCCCCGTGAGCCCCCCCAC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049472
chr19:1049476 C
C
 G
G
 1 a0013c0013t0002g0030
a0013c0013t0002g0030
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.2552+39C>G
c.2552+39C>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049476
chr19:1049481 A
A
 ACCCCGTG
others(20): Show 
ACCCCGTGAGCTGCCCCCACCACTCCCT
 3 a0001c0001t0003g0019
a0003c0005t0002g0003
a0007c0021t0001g0001
a0001c0001t0003g0019
a0003c0005t0002g0003
a0007c0021t0001g0001
 3 HG02451.hp1
HG02970.hp1
NA19066.hp2
HG02451.hp1
HG02970.hp1
NA19066.hp2
 intron_variant MODIFIER c.2552+54_2552+55ins
others(27): Show 
c.2552+54_2552+55insTGCCCCCACCACTCCCTCCCCGTGAGC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049481
chr19:1049481 A
A
 T
T
 15 a0001c0001t0003g0016
a0001c0001t0003g0017
a0002c0011t0001g0012
others(12): Show 
a0001c0001t0003g0016
a0001c0001t0003g0017
a0002c0011t0001g0012
a0004c0004t0001g0021
a0004c0004t0001g0023
a0006c0020t0002g0020
a0008c0006t0002g0006
a0009c0007t0002g0005
a0012c0016t0001g0024
a0014c0019t0002g0029
a0015c0018t0001g0028
a0016c0014t0002g0025
a0017c0017t0001g0027
a0018c0015t0001g0022
a0019c0012t0001g0026
 15 HG00673.hp1
HG00673.hp2
HG01071.hp2
others(12): Show 
HG00673.hp1
HG00673.hp2
HG01071.hp2
HG02071.hp1
HG02071.hp2
HG02145.hp1
HG02970.hp2
HG03688.hp1
HG03688.hp2
NA18970.hp1
NA18983.hp1
NA18983.hp2
NA19066.hp1
NA19079.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2552+44A>T
c.2552+44A>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049481
chr19:1049485 C
C
 T
T
 1 a0008c0006t0002g0006
a0008c0006t0002g0006
 1 NA18983.hp2
NA18983.hp2
 intron_variant MODIFIER c.2552+48C>T
c.2552+48C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049485
chr19:1049490 G
G
 GCTGCCCC
others(506): Show 
GCTGCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCG
TGAGCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCC
CATGAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCC
CCATGAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTC
CCCATGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCT
CCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCC
CTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTC
CCTCCCCGTGAACCCCCCACCACTCCCTCCCCATGAACCCCCCACCACTC
CCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACT
CCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCAC
TCCCTCCCCATGAA
 1 a0005c0022t0001g0004
a0005c0022t0001g0004
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.2552+54_2552+55ins
others(513): Show 
c.2552+54_2552+55insTGCCCCCACCACTCCCTCCCCGTGAGCCCC
CCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGGC
CCCCCACCACTCCCTCCCCATGAACCCCCCACCACTCCCTCCCCGTGAGG
CCCCCCACCACTCCCTCCCCATGAACCCCCCACCACTCCCTCCCCGTGAG
GCCCCCCACCACTCCCTCCCCATGAACCCCCCACCACTCCCTCCCCGTGA
GCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGT
GAGGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCG
TGAGCCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCC
ATGAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCC
CGTGAGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCC
CGTGAGGCCCCCCACCACTCCCTCCCCATGAAC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049490
chr19:1049490 G
G
 GCTGCCCC
others(49): Show 
GCTGCCCCCACCACTCCCTCCCTGTGAGCACCCCCCCCACCACTCCCTCC
CCGTGAA
 1 a0011c0008t0002g0014
a0011c0008t0002g0014
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.2552+54_2552+55ins
others(56): Show 
c.2552+54_2552+55insTGCCCCCACCACTCCCTCCCTGTGAGCACC
CCCCCCACCACTCCCTCCCCGTGAAC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049490
chr19:1049490 G
G
 GCTGCCCC
others(380): Show 
GCTGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCC
GTGAGCCCCCCCACCACTCCCTCCCCATGAACCCCCCACCACTCCCTCCC
CGTGAGCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTC
CCCATGAACCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCT
CCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCC
TCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCC
CTCCCCATGAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTC
CCTCCCTGTGAACCCCCCCACCACTCCCTCCCCGTGAA
 1 a0003c0005t0002g0002
a0003c0005t0002g0002
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.2552+54_2552+55ins
others(387): Show 
c.2552+54_2552+55insTGCCCCCCACCACTCCCTCCCCGTGAGCCC
CCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCATGAAC
CCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAG
GCCCCCCACCACTCCCTCCCCATGAACCCCCCCACCACTCCCTCCCCGTG
AACCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTG
AGCCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGT
GAGGCCCCCCACCACTCCCTCCCCATGAACCCCCCACCACTCCCTCCCCG
TGAGGCCCCCCACCACTCCCTCCCTGTGAACCCCCCCACCACTCCCTCCC
CGTGAAC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049490
chr19:1049490 GC
GC
 G
G
 8 a0002c0011t0001g0012
a0004c0004t0001g0021
a0004c0004t0001g0023
others(5): Show 
a0002c0011t0001g0012
a0004c0004t0001g0021
a0004c0004t0001g0023
a0014c0019t0002g0029
a0015c0018t0001g0028
a0017c0017t0001g0027
a0018c0015t0001g0022
a0019c0012t0001g0026
 8 HG00673.hp1
HG01071.hp2
HG02071.hp1
others(5): Show 
HG00673.hp1
HG01071.hp2
HG02071.hp1
HG02145.hp1
HG03688.hp1
HG03688.hp2
NA18970.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2552+60delC
c.2552+60delC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049490
chr19:1049491 C
C
 CCCCCCCA
others(94): Show 
CCCCCCCACTCCCACCCCGTGAGCTGCCCCCACCACTCCCTCCCCGTGAG
CCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCATG
AA
 1 a0001c0001t0003g0016
a0001c0001t0003g0016
 1 HG00673.hp2
HG00673.hp2
 intron_variant MODIFIER c.2552+62_2552+63ins
others(101): Show 
c.2552+62_2552+63insTCCCACCCCGTGAGCTGCCCCCACCACTCC
CTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACT
CCCTCCCCATGAACCCCCCAC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049491
chr19:1049491 C
C
 CT
CT
 4 a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
others(1): Show 
a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
a0013c0013t0002g0030
 4 NA20805.hp1
NA20805.hp2
NA20905.hp1
others(1): Show 
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.2552+54_2552+55ins
others(1): Show 
c.2552+54_2552+55insT
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049491
chr19:1049491 C
C
 CTGCCCCC
others(71): Show 
CTGCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGT
GAGGCCCCCCACCACTCCCTCCCCATGAA
 1 a0001c0001t0003g0018
a0001c0001t0003g0018
 1 NA19079.hp1
NA19079.hp1
 intron_variant MODIFIER c.2552+54_2552+55ins
others(78): Show 
c.2552+54_2552+55insTGCCCCCACCACTCCCTCCCCGTGAGCCCC
CCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCATGAA
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049491
chr19:1049491 C
C
 CTGCCCCC
others(1114): Show 
CTGCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGT
GAGGCCCCCCACCACTCCCTCCCCATGAACCCCCCACCACTCCCTCCCCG
TGAGGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCC
GTGAGCCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCC
TGTGAGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCC
CCATGAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTC
CCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCACTCCC
TCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCC
CTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTC
CCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACT
CCCTCCCTGTGAGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCAC
TCCCTCCCCATGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCA
CTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCGAC
CACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAACCCCCCA
CCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAACCCCCC
ACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGTGAACCCCCC
ACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGTGAGCCCCCC
GACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCC
CCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAACCCC
CCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGTGAACCCC
CCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAACCC
CCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCC
CCCACCACTCCCTCCCCGTGAA
 1 a0001c0001t0003g0015
a0001c0001t0003g0015
 1 HG01071.hp1
HG01071.hp1
 intron_variant MODIFIER c.2552+54_2552+55ins
others(1121): Show 
c.2552+54_2552+55insTGCCCCCACCACTCCCTCCCCGTGAGCCCC
CCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCATGAACC
CCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAAC
CCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAA
CCCCCCACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCCGTGAG
CCCCCCCACCACTCCCTCCCCATGAACCCCCCACCACTCCCTCCCCGTGA
GGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGT
GAGCCCCCCGACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCG
TGAGCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCC
CGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCC
CCGTGAACCCCCCACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCC
CCGTGAGCCCCCCCACCACTCCCTCCCCATGAACCCCCCACCACTCCCTC
CCCGTGAGCCCCCCGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCC
TCCCCGTGAGCCCCCCGACCACTCCCTCCCCGTGAGGCCCCCCACCACTC
CCTCCCTGTGAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACT
CCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACT
CCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACT
CCCTCCCCGTGAGCCCCCCGACCACTCCCTCCCCGTGAACCCCCCACCAC
TCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCA
CTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCA
CTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACC
ACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAACCCCCCACC
ACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGTGAA
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049491
chr19:1049491 C
C
 G
G
 2 a0009c0007t0002g0005
a0016c0014t0002g0025
a0009c0007t0002g0005
a0016c0014t0002g0025
 2 NA19066.hp1
NA19079.hp2
NA19066.hp1
NA19079.hp2
 intron_variant MODIFIER c.2552+54C>G
c.2552+54C>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049491
chr19:1049492 C
C
 G
G
 12 a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
others(9): Show 
a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
a0002c0011t0001g0012
a0004c0004t0001g0021
a0004c0004t0001g0023
a0013c0013t0002g0030
a0014c0019t0002g0029
a0015c0018t0001g0028
a0017c0017t0001g0027
a0018c0015t0001g0022
a0019c0012t0001g0026
 12 HG00673.hp1
HG01071.hp2
HG02071.hp1
others(9): Show 
HG00673.hp1
HG01071.hp2
HG02071.hp1
HG02145.hp1
HG03688.hp1
HG03688.hp2
NA18970.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2552+55C>G
c.2552+55C>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049492
chr19:1049511 C
C
 T
T
 2 a0008c0006t0002g0006
a0013c0013t0002g0030
a0008c0006t0002g0006
a0013c0013t0002g0030
 2 NA18983.hp2
NA20905.hp2
NA18983.hp2
NA20905.hp2
 intron_variant MODIFIER c.2552+74C>T
c.2552+74C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049511
chr19:1049512 G
G
 A
A
 1 a0001c0001t0003g0017
a0001c0001t0003g0017
 1 HG02071.hp2
HG02071.hp2
 intron_variant MODIFIER c.2552+75G>A
c.2552+75G>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049512
chr19:1049515 A
A
 AACCCCCC
others(19): Show 
AACCCCCCACCACTCCCTCCCCGTGAG
 1 a0001c0001t0003g0017
a0001c0001t0003g0017
 1 HG02071.hp2
HG02071.hp2
 intron_variant MODIFIER c.2552+78_2552+79ins
others(26): Show 
c.2552+78_2552+79insACCCCCCACCACTCCCTCCCCGTGAG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049515
chr19:1049515 A
A
 AG
AG
 8 a0001c0001t0003g0016
a0001c0001t0003g0018
a0001c0001t0003g0019
others(5): Show 
a0001c0001t0003g0016
a0001c0001t0003g0018
a0001c0001t0003g0019
a0001c0002t0002g0011
a0003c0005t0002g0002
a0005c0022t0001g0004
a0010c0010t0001g0013
a0011c0008t0002g0014
 8 HG00673.hp2
HG02145.hp2
HG02451.hp2
others(5): Show 
HG00673.hp2
HG02145.hp2
HG02451.hp2
HG02723.hp1
HG02723.hp2
NA18970.hp2
NA19066.hp2
NA19079.hp1
 intron_variant MODIFIER c.2552+79dupG
c.2552+79dupG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049515
chr19:1049516 G
G
 A
A
 10 a0002c0011t0001g0012
a0004c0004t0001g0021
a0009c0007t0002g0005
others(7): Show 
a0002c0011t0001g0012
a0004c0004t0001g0021
a0009c0007t0002g0005
a0012c0016t0001g0024
a0014c0019t0002g0029
a0015c0018t0001g0028
a0016c0014t0002g0025
a0017c0017t0001g0027
a0018c0015t0001g0022
a0019c0012t0001g0026
 10 HG01071.hp2
HG02071.hp1
HG02145.hp1
others(7): Show 
HG01071.hp2
HG02071.hp1
HG02145.hp1
HG03688.hp1
HG03688.hp2
NA18970.hp1
NA18983.hp1
NA19066.hp1
NA19079.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2552+79G>A
c.2552+79G>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049516
chr19:1049517 C
C
 A
A
 1 a0004c0004t0001g0023
a0004c0004t0001g0023
 1 HG00673.hp1
HG00673.hp1
 intron_variant MODIFIER c.2552+80C>A
c.2552+80C>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049517
chr19:1049517 C
C
 G
G
 1 a0006c0020t0002g0020
a0006c0020t0002g0020
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.2552+80C>G
c.2552+80C>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049517
chr19:1049518 CCCCCACC
others(195): Show 
CCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGC
CCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGTGAA
CCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGA
ACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTG
AGG
 C
C
 1 a0002c0003t0001g0007
a0002c0003t0001g0007
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.2552+86_2552+287de
others(1): Show 
c.2552+86_2552+287del
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049518
chr19:1049536 C
C
 CGTGAGCC
others(1171): Show 
CGTGAGCCCCCCGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTC
CCCGTGAGCCCCCCGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCC
TCCCCGTGAACCCCCCACCACTCCCTCCCTGTGAGTTCCCCCACCACTCC
CTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTC
CCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACT
CCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCAC
TCCCTCCCCGTGAACCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACT
CCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCA
CTCCCTCCCCGTGAACCCCCACCACTCCCTCCCCGTGAGCCCCCCACCAC
TCCCTCCCCGTGAGCCCCCCGACCACTCCCTCCCCGTGAGGCCCCCCACC
ACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCA
CCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGGCCCCC
GACCACTCCCTCCCCGTGAGCCCCCACCACTCCCTCCCCGTGAGCCCCCC
ACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCCCC
CCACCACTCCCTCCCCGTGAACCCCCACCACTCCCTCCCCGTGAGCCCCC
CACCACTCCCTCCCCGTGAGCCCCCCGACCACTCCCTCCCCGTGAGGCCC
CCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCC
CCCCACCACTCCCTCCCCGTGAGGCCCCCGACCACTCCCTCCCTGTGAGC
CCCCCGACCACTCCCTCCCTGTGAGCCCCCCCGGACCACTCCCTCCCTGT
GAGCCCCCCACCACTCCCTCCCTGTGAACCCCCCACCACTCCCTCCCCGT
GAGCCCCCCGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCT
GTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCACTCCCTCC
CCGTGAGGCCCCCCACCACTCCCTCCCTGTGAACCCCCCACCACTCCCTC
CCCGTGAGGCCCCCCACCACTCCCTCCCT
 1 a0001c0001t0003g0017
a0001c0001t0003g0017
 1 HG02071.hp2
HG02071.hp2
 intron_variant MODIFIER c.2552+103_2552+104i
others(1180): Show 
c.2552+103_2552+104insGCCCCCCGACCACTCCCTCCCCGTGAGG
CCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCACTCCCTCCCCGTGA
GGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCTGTG
AGTTCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCG
TGAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCC
GTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCC
GTGAGGCCCCCCACCACTCCCTCCCCGTGAACCCCCACCACTCCCTCCCC
GTGAGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCC
CGTGAGCCCCCCCACCACTCCCTCCCCGTGAACCCCCACCACTCCCTCCC
CGTGAGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCACTCCCTCC
CCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCT
CCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCC
CTCCCCGTGAGGCCCCCGACCACTCCCTCCCCGTGAGCCCCCACCACTCC
CTCCCCGTGAGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTC
CCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAACCCCCACCACTC
CCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCACT
CCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCA
CTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCGACC
ACTCCCTCCCTGTGAGCCCCCCGACCACTCCCTCCCTGTGAGCCCCCCCG
GACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCTGTGAACCCCC
CACCACTCCCTCCCCGTGAGCCCCCCGACCACTCCCTCCCCGTGAGGCCC
CCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCC
CCCCGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAA
CCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGA
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049536
chr19:1049536 C
C
 T
T
 2 a0012c0016t0001g0024
a0013c0013t0002g0030
a0012c0016t0001g0024
a0013c0013t0002g0030
 2 NA18983.hp1
NA20905.hp2
NA18983.hp1
NA20905.hp2
 intron_variant MODIFIER c.2552+99C>T
c.2552+99C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049536
chr19:1049537 G
G
 A
A
 3 a0003c0005t0002g0003
a0006c0020t0002g0020
a0007c0021t0001g0001
a0003c0005t0002g0003
a0006c0020t0002g0020
a0007c0021t0001g0001
 3 HG02451.hp1
HG02970.hp1
HG02970.hp2
HG02451.hp1
HG02970.hp1
HG02970.hp2
 intron_variant MODIFIER c.2552+100G>A
c.2552+100G>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049537
chr19:1049541 A
A
 C
C
 1 a0012c0016t0001g0024
a0012c0016t0001g0024
 1 NA18983.hp1
NA18983.hp1
 intron_variant MODIFIER c.2552+104A>C
c.2552+104A>C
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049541
chr19:1049541 A
A
 G
G
 2 a0002c0003t0001g0009
a0002c0009t0001g0008
a0002c0003t0001g0009
a0002c0009t0001g0008
 2 NA20805.hp1
NA20805.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.2552+104A>G
c.2552+104A>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049541
chr19:1049541 A
A
 T
T
 1 a0013c0013t0002g0030
a0013c0013t0002g0030
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.2552+104A>T
c.2552+104A>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049541
chr19:1049542 C
C
 T
T
 1 a0013c0013t0002g0030
a0013c0013t0002g0030
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.2552+105C>T
c.2552+105C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049542
chr19:1049547 C
C
 CACCACTC
others(124): Show 
CACCACTCCCTCCCCGTGAACCCCCCACCACTCTCTCCCCGTGAGCCCCC
CCACCACTCCCTCCCTGTGAGCCCCCCGACCGCTCCCTCCCCGTGAGGCC
CCCCACCACTCCCTCCCTGTGAGCCCCCCCGG
 1 a0018c0015t0001g0022
a0018c0015t0001g0022
 1 NA18970.hp1
NA18970.hp1
 intron_variant MODIFIER c.2552+128_2552+129i
others(133): Show 
c.2552+128_2552+129insACCCCCCACCACTCTCTCCCCGTGAGCC
CCCCCACCACTCCCTCCCTGTGAGCCCCCCGACCGCTCCCTCCCCGTGAG
GCCCCCCACCACTCCCTCCCTGTGAGCCCCCCCGGACCACTCCCTCCCCG
TGA
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049547
chr19:1049551 A
A
 G
G
 1 a0013c0013t0002g0030
a0013c0013t0002g0030
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.2552+114A>G
c.2552+114A>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049551
chr19:1049561 C
C
 T
T
 6 a0008c0006t0002g0006
a0013c0013t0002g0030
a0014c0019t0002g0029
others(3): Show 
a0008c0006t0002g0006
a0013c0013t0002g0030
a0014c0019t0002g0029
a0015c0018t0001g0028
a0017c0017t0001g0027
a0019c0012t0001g0026
 6 HG01071.hp2
HG02071.hp1
HG03688.hp1
others(3): Show 
HG01071.hp2
HG02071.hp1
HG03688.hp1
HG03688.hp2
NA18983.hp2
NA20905.hp2
 intron_variant MODIFIER c.2552+124C>T
c.2552+124C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049561
chr19:1049562 G
G
 A
A
 1 a0001c0001t0003g0019
a0001c0001t0003g0019
 1 NA19066.hp2
NA19066.hp2
 intron_variant MODIFIER c.2552+125G>A
c.2552+125G>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049562
chr19:1049566 G
G
 A
A
 1 a0005c0022t0001g0004
a0005c0022t0001g0004
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.2552+129G>A
c.2552+129G>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049566
chr19:1049567 C
C
 A
A
 1 a0001c0001t0003g0019
a0001c0001t0003g0019
 1 NA19066.hp2
NA19066.hp2
 intron_variant MODIFIER c.2552+130C>A
c.2552+130C>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049567
chr19:1049567 C
C
 CCCCCCCA
others(1713): Show 
CCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCGCTCCCTCCCTGTG
AGCCTCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCG
TGAACCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCC
CGTGAGCCCCCCCACCGCTCCCTCCCTGTGAGCCTCCCCACCACTCCCTC
CCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCC
TCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCC
CTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACT
CCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCAC
TCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCA
CTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACC
ACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACC
ACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAACCCCCCAC
CACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCC
ACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCC
ACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCC
CACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCC
CCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCC
CCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGGC
CCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGC
CCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGA
ACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTG
AACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCTGT
GAGCCCCCCGACCGCTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCG
TGAGCCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCC
GTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCCACCGCTCCCTC
CCTGTGAGCCTCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCC
TCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTC
CCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACT
CCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCAC
TCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCA
CTCCCTCCCCGTGAGCCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCA
CCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCA
CCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCC
ACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCC
CACCACTCCCTCCCCGTGAGG
 1 a0001c0002t0002g0011
a0001c0002t0002g0011
 1 NA18970.hp2
NA18970.hp2
 intron_variant MODIFIER c.2552+161_2552+162i
others(1722): Show 
c.2552+161_2552+162insCACCGCTCCCTCCCTGTGAGCCTCCCCA
CCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAACCCCCC
CACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCC
CCCACCGCTCCCTCCCTGTGAGCCTCCCCACCACTCCCTCCCCGTGAGGC
CCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAG
GCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGA
GCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGT
GAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCG
TGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCC
GTGAGGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCC
CGTGAGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCC
CGTGAGCCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCC
CCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCT
CCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCT
CCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCC
TCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCC
CTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTC
CCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCAC
TCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCA
CTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACC
ACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAACCCCCCAC
CACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCTGTGAGCCCCCCG
ACCGCTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCC
CACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCC
CCACCACTCCCTCCCCGTGAGCCCCCCCCACCGCTCCCTCCCTGTGAGCC
TCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAG
CCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTG
AACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGT
GAGGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCG
TGAGCCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCC
GTGAGCCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTC
CCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTC
CCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCT
CCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCC
TCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCCCCC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049567
chr19:1049567 C
C
 CCCCCCCC
others(362): Show 
CCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTTCCCTCCCCG
TGAACCCCCCACCACTCCCTCCCTGTGAGCCCCCCCCACCACTCCCTCCC
CGTGAGCCCCCCCACCACTCCCCTCCCCGTGAACCCCCCACCACTCCCTC
CCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCT
CCCTGTGAGCCCCCCGACCGCTCCCTCCCCGTGAGGCCCCCCACCACTCC
CTCCCTGTGAACCCCCCGGACCACTCCCTCCCCGTGAGGCCCCCCCACCA
CTCCCTCCCCTGTGAGCCCCCCCGGACCACTCCCTCCCCGTGAGGCCCCC
CACCACTCCCTCCCTGTGAA
 1 a0004c0004t0001g0021
a0004c0004t0001g0021
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.2552+136_2552+137i
others(371): Show 
c.2552+136_2552+137insCACCACTCCCTCCCCGTGAGCCCCCCCA
CCACTTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCTGTGAGCCCCCC
CCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCCTCCCCGTGAACC
CCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCC
CCCCCACCACTCCCTCCCTGTGAGCCCCCCGACCGCTCCCTCCCCGTGAG
GCCCCCCACCACTCCCTCCCTGTGAACCCCCCGGACCACTCCCTCCCCGT
GAGGCCCCCCCACCACTCCCTCCCCTGTGAGCCCCCCCGGACCACTCCCT
CCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAACCCCCC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049567
chr19:1049567 C
C
 G
G
 3 a0003c0005t0002g0002
a0006c0020t0002g0020
a0018c0015t0001g0022
a0003c0005t0002g0002
a0006c0020t0002g0020
a0018c0015t0001g0022
 3 HG02145.hp2
HG02970.hp2
NA18970.hp1
HG02145.hp2
HG02970.hp2
NA18970.hp1
 intron_variant MODIFIER c.2552+130C>G
c.2552+130C>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049567
chr19:1049568 C
C
 G
G
 1 a0002c0003t0001g0009
a0002c0003t0001g0009
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.2552+131C>G
c.2552+131C>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049568
chr19:1049569 C
C
 CCCCACCA
others(71): Show 
CCCCACCACTCCCTCCCCGTGAGCCCCCCGACCGCTCCCTCCCTTTGAGC
CCCCCCGGACCACTCCCTCCCTGTGAGTT
 1 a0016c0014t0002g0025
a0016c0014t0002g0025
 1 NA19066.hp1
NA19066.hp1
 intron_variant MODIFIER c.2552+135_2552+136i
others(80): Show 
c.2552+135_2552+136insACCACTCCCTCCCCGTGAGCCCCCCGAC
CGCTCCCTCCCTTTGAGCCCCCCCGGACCACTCCCTCCCTGTGAGTTCCC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049569
chr19:1049569 C
C
 G
G
 1 a0002c0009t0001g0008
a0002c0009t0001g0008
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.2552+132C>G
c.2552+132C>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049569
chr19:1049573 C
C
 G
G
 1 a0001c0001t0003g0017
a0001c0001t0003g0017
 1 HG02071.hp2
HG02071.hp2
 intron_variant MODIFIER c.2552+136C>G
c.2552+136C>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049573
chr19:1049575 C
C
 CCACTCCC
others(301): Show 
CCACTCCCTCCCCGAGCCCCCCCACCACTCCCTCCCCGTGAACCCCCCCA
CCACTCCCTCCCTGTGACCCCCCCACCACTGCCCTCCCCGTGAGCCCCCC
CACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAACCCCC
CACCACTCCCTCGCCCGTGAGCCCCCCCACCACTCCCTCCCTGTGAGCCC
CCCGACCGCTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCTGTGAGCC
CCCCCGGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCCTCCCCGT
GAACCCCCA
 1 a0004c0004t0001g0023
a0004c0004t0001g0023
 1 HG00673.hp1
HG00673.hp1
 intron_variant MODIFIER c.2552+151_2552+152i
others(310): Show 
c.2552+151_2552+152insAGCCCCCCCACCACTCCCTCCCCGTGAA
CCCCCCCACCACTCCCTCCCTGTGACCCCCCCACCACTGCCCTCCCCGTG
AGCCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGT
GAACCCCCCACCACTCCCTCGCCCGTGAGCCCCCCCACCACTCCCTCCCT
GTGAGCCCCCCGACCGCTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCC
TGTGAGCCCCCCCGGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCC
CTCCCCGTGAACCCCCACACTCCCTCCCCG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049575
chr19:1049587 C
C
 T
T
 2 a0008c0006t0002g0006
a0018c0015t0001g0022
a0008c0006t0002g0006
a0018c0015t0001g0022
 2 NA18970.hp1
NA18983.hp2
NA18970.hp1
NA18983.hp2
 intron_variant MODIFIER c.2552+150C>T
c.2552+150C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049587
chr19:1049587 CGTGAGCC
others(300): Show 
CGTGAGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCC
CGTGAGCCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCC
CCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCT
CCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCC
TCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCC
CTCCCTGTGAGCCCCCCGACCGCTCCCTCCCCGTGAGCCCCCCCACCACT
CCCTCCCT
 C
C
 1 a0013c0013t0002g0030
a0013c0013t0002g0030
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.2552+162_2552+468d
others(2): Show 
c.2552+162_2552+468del
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049587
chr19:1049588 G
G
 A
A
 1 a0003c0005t0002g0002
a0003c0005t0002g0002
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.2552+151G>A
c.2552+151G>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049588
chr19:1049591 A
A
 AACCCCCC
others(675): Show 
AACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGT
GAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCACCACTCCCTCCCCGT
GAGCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCC
ATGAACCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCC
GTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCC
CCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTC
CCCGTGAGCCCCCCACCACTCCCTCCCCGTGAACCCCCACCACTCCCTCC
CCGTGAACCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCC
CGTGAACCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCC
CGTGAGTCCCCCGACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCC
CCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGTCCCCCGACCACTCCCT
CCCTTTGAGCCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCC
TCCCCGTGAGTCCCCCCACCACTCCCTCCCCGTGAACCCACCACTCCCTC
CCCGTGAACCCCCCACCACTCCCTCCCCGTGAG
 1 a0006c0020t0002g0020
a0006c0020t0002g0020
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.2552+154_2552+155i
others(684): Show 
c.2552+154_2552+155insACCCCCCACCACTCCCTCCCCGTGAGCC
CCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGG
CCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAG
GCCCCCCACCACTCCCTCCCCATGAACCCCCCACCACTCCCTCCCCGTGA
ACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTG
AGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCG
TGAGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCG
TGAACCCCCACCACTCCCTCCCCGTGAACCCCCACCACTCCCTCCCCGTG
AACCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTG
AACCCCCCACCACTCCCTCCCCGTGAGTCCCCCGACCACTCCCTCCCCGT
GAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCG
TGAGTCCCCCGACCACTCCCTCCCTTTGAGCCCCCCCACCACTCCCTCCC
CGTGAACCCCCCACCACTCCCTCCCCGTGAGTCCCCCCACCACTCCCTCC
CCGTGAACCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCG
TGAG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049591
chr19:1049591 A
A
 AG
AG
 5 a0001c0001t0003g0017
a0003c0005t0002g0003
a0007c0021t0001g0001
others(2): Show 
a0001c0001t0003g0017
a0003c0005t0002g0003
a0007c0021t0001g0001
a0010c0010t0001g0013
a0011c0008t0002g0014
 5 HG02071.hp2
HG02451.hp1
HG02723.hp1
others(2): Show 
HG02071.hp2
HG02451.hp1
HG02723.hp1
HG02723.hp2
HG02970.hp1
 intron_variant MODIFIER c.2552+155dupG
c.2552+155dupG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049591
chr19:1049591 A
A
 AGCCCCCC
others(1870): Show 
AGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCACCACTCCCTCCCCGTG
AACCCCCCACCACTCCCTCCCCGTGAGGCCCCCACCACTCCCTCCCCGTG
AACCCCCCACCACTCCCTCCCGTGAACCCCCCACCACTCCCTCCCTGTGA
GCCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTG
AACCCCCCACCACTCCCTCCCTGTGAGCCCCCACCACTCCTCCCCGTGAA
CCCCCCGACCGCTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTG
AACCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGT
GAACCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGT
GAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGT
GAGCCCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTCCCT
GTGAGCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCC
CTGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTC
CCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCT
CCCCGTGAGCCCCCGACCGCTCCCTCCCCGTGAGCCCCCCGACCGCTCCC
TCCCTGTGAGCCTCCCCGGACCACTCCCTCCCCGTGAGCCCCCCCACCAC
TCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACC
ACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCCGTGAACCCCCCGAC
CGCTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCG
ACCGCTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCC
CCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCC
CCCCACCACTCCCTCCCCGTGAGGCCCCCACCACTCCCTCCCCGTGAGCC
CCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAG
GCCCCCCACCACTCCCTCCCCGTGAGCCCCCGACCGCTCCCTCCCCGTGA
GGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTG
AGGCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCT
GTGAGTTCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCC
TGTGAGCCCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTC
CCTGTGAGTTCCCCGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCC
TCCCTGTGAGTTCCCCGACCACTCCCTCCCCGTGAGGCCCCCCCACCACT
CCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAGTTCCCCGACCA
CTCCCTCCCTGTGAGCCCCCCCACCACTCCCTCCCTGTGAGTTCCCCGAC
CACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCC
ACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCC
CCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGGCC
CCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGC
CCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAA
CCCCCCACCACTCCCTCCCCGTGAGGCCCCCCCACCACTCCCTCCCCGTG
AGGCCCCCCACCACTCCCTCCCCGTGAG
 1 a0017c0017t0001g0027
a0017c0017t0001g0027
 1 HG01071.hp2
HG01071.hp2
 intron_variant MODIFIER c.2552+179_2552+180i
others(1879): Show 
c.2552+179_2552+180insGGCCCCCACCACTCCCTCCCCGTGAACC
CCCCACCACTCCCTCCCCGTGAGGCCCCCACCACTCCCTCCCCGTGAACC
CCCCACCACTCCCTCCCGTGAACCCCCCACCACTCCCTCCCTGTGAGCCC
CCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAACC
CCCCACCACTCCCTCCCTGTGAGCCCCCACCACTCCTCCCCGTGAACCCC
CCGACCGCTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAACC
CCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAAC
CCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAAC
CCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGTGAGC
CCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTCCCTGTGA
GCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGT
GAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCGT
GAGCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCC
GTGAGCCCCCGACCGCTCCCTCCCCGTGAGCCCCCCGACCGCTCCCTCCC
TGTGAGCCTCCCCGGACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCC
TCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTC
CCTCCCTGTGAGCCCCCCACCACTCCCTCCCCGTGAACCCCCCGACCGCT
CCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCG
CTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCAC
CACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCC
ACCACTCCCTCCCCGTGAGGCCCCCACCACTCCCTCCCCGTGAGCCCCCC
CACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGGCCC
CCCACCACTCCCTCCCCGTGAGCCCCCGACCGCTCCCTCCCCGTGAGGCC
CCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGGC
CCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGA
GTTCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCTGTG
AGCCCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTCCCTG
TGAGTTCCCCGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCC
TGTGAGTTCCCCGACCACTCCCTCCCCGTGAGGCCCCCCCACCACTCCCT
CCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAGTTCCCCGACCACTCC
CTCCCTGTGAGCCCCCCCACCACTCCCTCCCTGTGAGTTCCCCGACCACT
CCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCA
CTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCAC
CACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCC
ACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCCCC
CACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAACCCC
CCACCACTCCCTCCCCGTGAGGCCCCCCCACCACTCCCTCCCCGTGAGGC
CCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGA
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049591
chr19:1049591 A
A
 AGCCCCCC
others(254): Show 
AGCCCCCCGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCG
TGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCC
GTGAGCCCCCCGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCC
CCGTGAGCCCCCCGACCACTCCCTCCCCGTGAGCCCCCCGGACCACTCCC
TCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCACTC
CCTCCCCGTGAG
 1 a0001c0001t0003g0018
a0001c0001t0003g0018
 1 NA19079.hp1
NA19079.hp1
 intron_variant MODIFIER c.2552+161_2552+162i
others(263): Show 
c.2552+161_2552+162insGACCACTCCCTCCCCGTGAGGCCCCCCA
CCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCC
ACCACTCCCTCCCCGTGAGCCCCCCGACCACTCCCTCCCCGTGAGGCCCC
CCACCACTCCCTCCCCGTGAGCCCCCCGACCACTCCCTCCCCGTGAGCCC
CCCGGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAG
CCCCCCGACCACTCCCTCCCCGTGAGGCCCCCC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049591
chr19:1049592 G
G
 A
A
 8 a0001c0001t0003g0015
a0001c0001t0003g0016
a0002c0003t0001g0009
others(5): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0002c0003t0001g0009
a0002c0009t0001g0008
a0003c0005t0002g0002
a0005c0022t0001g0004
a0012c0016t0001g0024
a0018c0015t0001g0022
 8 HG00673.hp2
HG01071.hp1
HG02145.hp2
others(5): Show 
HG00673.hp2
HG01071.hp1
HG02145.hp2
HG02451.hp2
NA18970.hp1
NA18983.hp1
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.2552+155G>A
c.2552+155G>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049592
chr19:1049592 G
G
 GC
GC
 4 a0001c0001t0003g0019
a0015c0018t0001g0028
a0016c0014t0002g0025
others(1): Show 
a0001c0001t0003g0019
a0015c0018t0001g0028
a0016c0014t0002g0025
a0019c0012t0001g0026
 4 HG03688.hp1
HG03688.hp2
NA19066.hp1
others(1): Show 
HG03688.hp1
HG03688.hp2
NA19066.hp1
NA19066.hp2
 intron_variant MODIFIER c.2552+161dupC
c.2552+161dupC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049592
chr19:1049592 G
G
 GCCCCCCC
others(94): Show 
GCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCACCACTCCCTCCCCGTG
AACCCCCCACCACTCCCTCCCCGTGAGGCCCCCACCACTCCCTCCCCGTG
AA
 1 a0014c0019t0002g0029
a0014c0019t0002g0029
 1 HG02071.hp1
HG02071.hp1
 intron_variant MODIFIER c.2552+161_2552+162i
others(103): Show 
c.2552+161_2552+162insCACCACTCCCTCCCCGTGAGGCCCCCAC
CACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCAC
CACTCCCTCCCCGTGAACCCCCC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049592
chr19:1049592 G
G
 GCCCCCCC
others(297): Show 
GCCCCCCCACCACTCCCTCCCGTGAACCCCCCACCACTCCCTCCCCGTGA
GCCCCCCCACCACTCCCTCCCGTGAGCCCCCCCACCACTCCCTCCCCGTG
AACCCCCCACCACTCCCTCCCCGTGAACCCCCACCACTCCCTCCCCGTGA
GCCCCCCCACCACTCCCTCCCTGTGAGCCCCCCGACCGCTCCCTCCCCGT
GAGGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTCCCC
GTGAGCCCCCCACCACTCCCTCCCCGTGAACCCCCACCACTCCCTCCCTG
TGAGC
 1 a0002c0011t0001g0012
a0002c0011t0001g0012
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2552+161_2552+162i
others(306): Show 
c.2552+161_2552+162insCACCACTCCCTCCCGTGAACCCCCCACC
ACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCGTGAGCCCCCCCAC
CACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAACCCCCACC
ACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCTGTGAGCCCCCCGA
CCGCTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAGCCCCCC
CACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGTGAACCCCC
ACCACTCCCTCCCTGTGAGCCCCCCC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049592
chr19:1049592 G
G
 GCCCCCCG
others(230): Show 
GCCCCCCGACCGCTCCCTCCCTTTGAGCCCCCCCGGACCACTCCCTCCCT
GTGAGTTCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTCCC
TGTGAGCCCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTC
CCTGTGAGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCCGGACCACTCC
CTCCCTGTGAGCCCCCCGACCGCTCCCTCCCCGTGAGC
 1 a0009c0007t0002g0005
a0009c0007t0002g0005
 1 NA19079.hp2
NA19079.hp2
 intron_variant MODIFIER c.2552+161_2552+162i
others(239): Show 
c.2552+161_2552+162insGACCGCTCCCTCCCTTTGAGCCCCCCCG
GACCACTCCCTCCCTGTGAGTTCCCCACCACTCCCTCCCTGTGAGCCCCC
CCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTCCCTGTGAGCCC
CCCCACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCTGTGAGCC
CCCCCGGACCACTCCCTCCCTGTGAGCCCCCCGACCGCTCCCTCCCCGTG
AGCCCCCCC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049592
chr19:1049596 C
C
 A
A
 1 a0007c0021t0001g0001
a0007c0021t0001g0001
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.2552+159C>A
c.2552+159C>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049596
chr19:1049598 C
C
 G
G
 1 a0002c0009t0001g0008
a0002c0009t0001g0008
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.2552+161C>G
c.2552+161C>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049598
chr19:1049602 A
A
 G
G
 2 a0002c0003t0001g0009
a0002c0009t0001g0008
a0002c0003t0001g0009
a0002c0009t0001g0008
 2 NA20805.hp1
NA20805.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.2552+165A>G
c.2552+165A>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049602
chr19:1049612 C
C
 T
T
 4 a0001c0001t0003g0016
a0001c0001t0003g0017
a0001c0001t0003g0018
others(1): Show 
a0001c0001t0003g0016
a0001c0001t0003g0017
a0001c0001t0003g0018
a0008c0006t0002g0006
 4 HG00673.hp2
HG02071.hp2
NA18983.hp2
others(1): Show 
HG00673.hp2
HG02071.hp2
NA18983.hp2
NA19079.hp1
 intron_variant MODIFIER c.2552+175C>T
c.2552+175C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049612
chr19:1049613 G
G
 A
A
 2 a0003c0005t0002g0003
a0007c0021t0001g0001
a0003c0005t0002g0003
a0007c0021t0001g0001
 2 HG02451.hp1
HG02970.hp1
HG02451.hp1
HG02970.hp1
 intron_variant MODIFIER c.2552+176G>A
c.2552+176G>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049613
chr19:1049616 A
A
 AG
AG
 7 a0001c0001t0003g0019
a0001c0002t0002g0011
a0002c0003t0001g0009
others(4): Show 
a0001c0001t0003g0019
a0001c0002t0002g0011
a0002c0003t0001g0009
a0002c0009t0001g0008
a0003c0005t0002g0002
a0009c0007t0002g0005
a0016c0014t0002g0025
 7 HG02145.hp2
NA18970.hp2
NA19066.hp1
others(4): Show 
HG02145.hp2
NA18970.hp2
NA19066.hp1
NA19066.hp2
NA19079.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.2552+179_2552+180i
others(3): Show 
c.2552+179_2552+180insG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049616
chr19:1049616 A
A
 AGCCCCCC
others(73): Show 
AGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCCGGACCACTCCCTCCCT
GTGAGCCCCCCGACCGCTCCCTCCCCGTGAG
 1 a0008c0006t0002g0006
a0008c0006t0002g0006
 1 NA18983.hp2
NA18983.hp2
 intron_variant MODIFIER c.2552+179_2552+180i
others(82): Show 
c.2552+179_2552+180insGCCCCCCACCACTCCCTCCCTGTGAGCC
CCCCCGGACCACTCCCTCCCTGTGAGCCCCCCGACCGCTCCCTCCCCGTG
AG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049616
chr19:1049617 A
A
 ACCCCCCA
others(44): Show 
ACCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGA
GC
 1 a0001c0001t0003g0015
a0001c0001t0003g0015
 1 HG01071.hp1
HG01071.hp1
 intron_variant MODIFIER c.2552+204_2552+205i
others(53): Show 
c.2552+204_2552+205insACCCCCCACCACTCCCTCCCCGTGAGCC
CCCCCACCACTCCCTCCCCGTGA
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049617
chr19:1049617 A
A
 C
C
 4 a0001c0002t0002g0011
a0008c0006t0002g0006
a0009c0007t0002g0005
others(1): Show 
a0001c0002t0002g0011
a0008c0006t0002g0006
a0009c0007t0002g0005
a0016c0014t0002g0025
 4 NA18970.hp2
NA18983.hp2
NA19066.hp1
others(1): Show 
NA18970.hp2
NA18983.hp2
NA19066.hp1
NA19079.hp2
 intron_variant MODIFIER c.2552+180A>C
c.2552+180A>C
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049617
chr19:1049617 A
A
 G
G
 7 a0001c0001t0003g0016
a0001c0001t0003g0019
a0003c0005t0002g0002
others(4): Show 
a0001c0001t0003g0016
a0001c0001t0003g0019
a0003c0005t0002g0002
a0005c0022t0001g0004
a0015c0018t0001g0028
a0017c0017t0001g0027
a0019c0012t0001g0026
 7 HG00673.hp2
HG01071.hp2
HG02145.hp2
others(4): Show 
HG00673.hp2
HG01071.hp2
HG02145.hp2
HG02451.hp2
HG03688.hp1
HG03688.hp2
NA19066.hp2
 intron_variant MODIFIER c.2552+180A>G
c.2552+180A>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049617
chr19:1049617 A
A
 T
T
 2 a0002c0003t0001g0009
a0002c0009t0001g0008
a0002c0003t0001g0009
a0002c0009t0001g0008
 2 NA20805.hp1
NA20805.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.2552+180A>T
c.2552+180A>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049617
chr19:1049618 C
C
 G
G
 2 a0015c0018t0001g0028
a0019c0012t0001g0026
a0015c0018t0001g0028
a0019c0012t0001g0026
 2 HG03688.hp1
HG03688.hp2
HG03688.hp1
HG03688.hp2
 intron_variant MODIFIER c.2552+181C>G
c.2552+181C>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049618
chr19:1049623 C
C
 G
G
 2 a0002c0003t0001g0009
a0002c0009t0001g0008
a0002c0003t0001g0009
a0002c0009t0001g0008
 2 NA20805.hp1
NA20805.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.2552+186C>G
c.2552+186C>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049623
chr19:1049637 C
C
 T
T
 6 a0002c0011t0001g0012
a0003c0005t0002g0002
a0004c0004t0001g0021
others(3): Show 
a0002c0011t0001g0012
a0003c0005t0002g0002
a0004c0004t0001g0021
a0004c0004t0001g0023
a0014c0019t0002g0029
a0018c0015t0001g0022
 6 HG00673.hp1
HG02071.hp1
HG02145.hp1
others(3): Show 
HG00673.hp1
HG02071.hp1
HG02145.hp1
HG02145.hp2
NA18970.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2552+200C>T
c.2552+200C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049637
chr19:1049638 G
G
 A
A
 1 a0001c0001t0003g0019
a0001c0001t0003g0019
 1 NA19066.hp2
NA19066.hp2
 intron_variant MODIFIER c.2552+201G>A
c.2552+201G>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049638
chr19:1049641 AG
AG
 A
A
 2 a0001c0001t0003g0019
a0019c0012t0001g0026
a0001c0001t0003g0019
a0019c0012t0001g0026
 2 HG03688.hp2
NA19066.hp2
HG03688.hp2
NA19066.hp2
 intron_variant MODIFIER c.2552+205delG
c.2552+205delG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049641
chr19:1049642 G
G
 A
A
 2 a0003c0005t0002g0002
a0015c0018t0001g0028
a0003c0005t0002g0002
a0015c0018t0001g0028
 2 HG02145.hp2
HG03688.hp1
HG02145.hp2
HG03688.hp1
 intron_variant MODIFIER c.2552+205G>A
c.2552+205G>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049642
chr19:1049643 C
C
 A
A
 2 a0001c0001t0003g0019
a0019c0012t0001g0026
a0001c0001t0003g0019
a0019c0012t0001g0026
 2 HG03688.hp2
NA19066.hp2
HG03688.hp2
NA19066.hp2
 intron_variant MODIFIER c.2552+206C>A
c.2552+206C>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049643
chr19:1049643 C
C
 CCCCCCAC
others(275): Show 
CCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAG
CCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGA
ACCCCCCACCACTCCCTCCCCGTGAACCCCCCGACCGCTCCCTCCCCGTG
AGGCCCCCCACCGCTCCCTCCCTGTGAGCCCCCCCGGACCACTCCCTCCC
CGTGAGGCCCCCCACCACTCCCTCCCTGTGAACCCCCCACCACTCCCTCC
CCGTGAGGCCCCCCACCACTCCCTCCCTGTGAA
 1 a0015c0018t0001g0028
a0015c0018t0001g0028
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.2552+211_2552+212i
others(284): Show 
c.2552+211_2552+212insACCACTCCCTCCCCGTGAACCCCCCACC
ACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAACCCCCCAC
CACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAACCCCCCGA
CCGCTCCCTCCCCGTGAGGCCCCCCACCGCTCCCTCCCTGTGAGCCCCCC
CGGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAACC
CCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAAC
CCCC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049643
chr19:1049643 C
C
 CCCCCCCA
others(45): Show 
CCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTG
AGG
 2 a0010c0010t0001g0013
a0011c0008t0002g0014
a0010c0010t0001g0013
a0011c0008t0002g0014
 2 HG02723.hp1
HG02723.hp2
HG02723.hp1
HG02723.hp2
 intron_variant MODIFIER c.2552+230_2552+231i
others(54): Show 
c.2552+230_2552+231insGCCCCCCCACCACTCCCTCCCCGTGAGG
CCCCCCACCACTCCCTCCCCGTGA
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049643
chr19:1049643 C
C
 G
G
 2 a0001c0001t0003g0017
a0001c0002t0002g0011
a0001c0001t0003g0017
a0001c0002t0002g0011
 2 HG02071.hp2
NA18970.hp2
HG02071.hp2
NA18970.hp2
 intron_variant MODIFIER c.2552+206C>G
c.2552+206C>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049643
chr19:1049663 C
C
 T
T
 2 a0001c0001t0003g0017
a0012c0016t0001g0024
a0001c0001t0003g0017
a0012c0016t0001g0024
 2 HG02071.hp2
NA18983.hp1
HG02071.hp2
NA18983.hp1
 intron_variant MODIFIER c.2552+226C>T
c.2552+226C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049663
chr19:1049664 G
G
 A
A
 1 a0001c0001t0003g0016
a0001c0001t0003g0016
 1 HG00673.hp2
HG00673.hp2
 intron_variant MODIFIER c.2552+227G>A
c.2552+227G>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049664
chr19:1049667 A
A
 AG
AG
 5 a0001c0001t0003g0019
a0002c0003t0001g0009
a0008c0006t0002g0006
others(2): Show 
a0001c0001t0003g0019
a0002c0003t0001g0009
a0008c0006t0002g0006
a0009c0007t0002g0005
a0016c0014t0002g0025
 5 NA18983.hp2
NA19066.hp1
NA19066.hp2
others(2): Show 
NA18983.hp2
NA19066.hp1
NA19066.hp2
NA19079.hp2
NA20805.hp2
 intron_variant MODIFIER c.2552+230_2552+231i
others(3): Show 
c.2552+230_2552+231insG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049667
chr19:1049667 A
A
 AGCCCCCC
others(202): Show 
AGCCCCCCGACCGCTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTG
TGAGCCCCCCCGGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTC
CCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTC
CCCGTGAAACCCCCCACCACTCCCTCCCCTGTGAACCCCCCACCACTCCC
TCCCCGTGAG
 1 a0012c0016t0001g0024
a0012c0016t0001g0024
 1 NA18983.hp1
NA18983.hp1
 intron_variant MODIFIER c.2552+230_2552+231i
others(211): Show 
c.2552+230_2552+231insGCCCCCCGACCGCTCCCTCCCCGTGAGG
CCCCCCACCACTCCCTCCCTGTGAGCCCCCCCGGACCACTCCCTCCCCGT
GAGGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCG
TGAGCCCCCCACCACTCCCTCCCCGTGAAACCCCCCACCACTCCCTCCCC
TGTGAACCCCCCACCACTCCCTCCCCGTGAG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049667
chr19:1049668 A
A
 ACCCCCCA
others(1159): Show 
ACCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCTGTGA
GCCCCCCACCACTCCCTCCCCGTGAACCCCCCGACCGCTCCCTCCCCGTG
AGGCCCCCCCACCACTCCCTCCCTGTGAGCCCCCCCGGACCACTCCCTCC
CCGTGAGGCCCCCACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCC
CCGTGAACCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCC
CTGTGAGCCCCCCACCACTCCCTCCCCGTGAACCCCCCGACCGCTCCCTC
CCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCCGGACCACTC
CCTCCCCGTGAGGCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACT
CCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACT
CCCTCCCTGTGAGCCCCCCACCACTCCCTCCCCGTGAACCCCCCGACCGC
TCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCCGGA
CCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAACCCCCC
ACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAACCCCC
CACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCTGTGAGCCCCC
CCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAACC
CCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGG
CCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCGCTCCCTCCCCGTGA
GCCCCCCGACCGCTCCCTCCCTGTGAGCCTCCCCGGACCACTCCCTCCCC
GTGAGCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCC
CCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCGCTCCCT
CCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCGGACCACT
CCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCA
CTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCACC
ACTCCCTCCCCGTGAGC
 1 a0014c0019t0002g0029
a0014c0019t0002g0029
 1 HG02071.hp1
HG02071.hp1
 intron_variant MODIFIER c.2552+255_2552+256i
others(1168): Show 
c.2552+255_2552+256insACCCCCCACCACTCCCTCCCTGTGAGCC
CCCCACCACTCCCTCCCCGTGAACCCCCCGACCGCTCCCTCCCCGTGAGG
CCCCCCCACCACTCCCTCCCTGTGAGCCCCCCCGGACCACTCCCTCCCCG
TGAGGCCCCCACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCCG
TGAACCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCTG
TGAGCCCCCCACCACTCCCTCCCCGTGAACCCCCCGACCGCTCCCTCCCC
GTGAGGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCCGGACCACTCCCT
CCCCGTGAGGCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCC
TCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCC
TCCCTGTGAGCCCCCCACCACTCCCTCCCCGTGAACCCCCCGACCGCTCC
CTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCCGGACCA
CTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAACCCCCCACC
ACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAACCCCCCAC
CACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCTGTGAGCCCCCCCC
ACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAACCCCC
CACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGGCCC
CCCACCACTCCCTCCCCGTGAGCCCCCCGACCGCTCCCTCCCCGTGAGCC
CCCCGACCGCTCCCTCCCTGTGAGCCTCCCCGGACCACTCCCTCCCCGTG
AGCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCG
TGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCGCTCCCTCCC
CGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCGGACCACTCCC
TCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTC
CCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCACCACT
CCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGA
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049668
chr19:1049668 A
A
 C
C
 5 a0002c0003t0001g0009
a0008c0006t0002g0006
a0009c0007t0002g0005
others(2): Show 
a0002c0003t0001g0009
a0008c0006t0002g0006
a0009c0007t0002g0005
a0012c0016t0001g0024
a0016c0014t0002g0025
 5 NA18983.hp1
NA18983.hp2
NA19066.hp1
others(2): Show 
NA18983.hp1
NA18983.hp2
NA19066.hp1
NA19079.hp2
NA20805.hp2
 intron_variant MODIFIER c.2552+231A>C
c.2552+231A>C
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049668
chr19:1049668 A
A
 G
G
 6 a0001c0001t0003g0019
a0002c0009t0001g0008
a0003c0005t0002g0003
others(3): Show 
a0001c0001t0003g0019
a0002c0009t0001g0008
a0003c0005t0002g0003
a0006c0020t0002g0020
a0007c0021t0001g0001
a0019c0012t0001g0026
 6 HG02451.hp1
HG02970.hp1
HG02970.hp2
others(3): Show 
HG02451.hp1
HG02970.hp1
HG02970.hp2
HG03688.hp2
NA19066.hp2
NA20805.hp1
 intron_variant MODIFIER c.2552+231A>G
c.2552+231A>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049668
chr19:1049669 C
C
 G
G
 1 a0019c0012t0001g0026
a0019c0012t0001g0026
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.2552+232C>G
c.2552+232C>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049669
chr19:1049669 C
C
 T
T
 2 a0003c0005t0002g0003
a0007c0021t0001g0001
a0003c0005t0002g0003
a0007c0021t0001g0001
 2 HG02451.hp1
HG02970.hp1
HG02451.hp1
HG02970.hp1
 intron_variant MODIFIER c.2552+232C>T
c.2552+232C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049669
chr19:1049688 C
C
 T
T
 6 a0002c0011t0001g0012
a0003c0005t0002g0003
a0004c0004t0001g0021
others(3): Show 
a0002c0011t0001g0012
a0003c0005t0002g0003
a0004c0004t0001g0021
a0004c0004t0001g0023
a0007c0021t0001g0001
a0018c0015t0001g0022
 6 HG00673.hp1
HG02145.hp1
HG02451.hp1
others(3): Show 
HG00673.hp1
HG02145.hp1
HG02451.hp1
HG02970.hp1
NA18970.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2552+251C>T
c.2552+251C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049688
chr19:1049694 C
C
 A
A
 1 a0019c0012t0001g0026
a0019c0012t0001g0026
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.2552+257C>A
c.2552+257C>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049694
chr19:1049694 C
C
 CCCCCCCA
others(591): Show 
CCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCCACCACTCCCTCCCTGT
GAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGT
GAGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCCCACCACTCCCTCCCC
GTGAACCCCCCACCACTCCCTCCCTGTGAGCCCCCCCGGACCACTCCCTC
CCCGTGAGGCCCCCCACCACTCCCCTCCCTGTGAACCCCCCACCACTCCC
CTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTC
CCTCCCTGTGAGCCCCCCACCACTCCCTCCCTGTGAACCCCCCACCACTC
CCTCCCCGTGAGCCCCCCCACCACTCCCTCCCGTGAGCCCCCCGACCGCT
CCCCTCCCCGTGAGTCCCCCGACCACTCCCTCCCCGTGAGCCCCCCCGAC
CGCTCCCTCCCCGTGAGTCCCCCGACCACTCCCTCCCTGTGAGCCCCCCC
CGGACCACTCCCTCCCTGTGAGTTCCCCCACCACTCCCTCCCTGTGAGCC
CCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAA
 1 a0004c0004t0001g0023
a0004c0004t0001g0023
 1 HG00673.hp1
HG00673.hp1
 intron_variant MODIFIER c.2552+289_2552+290i
others(600): Show 
c.2552+289_2552+290insCACCACTCCCTCCCTGTGAACCCCCCAC
CACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCAC
CACTCCCTCCCTGTGAGCCCCCCCCACCACTCCCTCCCCGTGAACCCCCC
ACCACTCCCTCCCTGTGAGCCCCCCCGGACCACTCCCTCCCCGTGAGGCC
CCCCACCACTCCCCTCCCTGTGAACCCCCCACCACTCCCCTCCCCGTGAG
GCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCTGTGA
GCCCCCCACCACTCCCTCCCTGTGAACCCCCCACCACTCCCTCCCCGTGA
GCCCCCCCACCACTCCCTCCCGTGAGCCCCCCGACCGCTCCCCTCCCCGT
GAGTCCCCCGACCACTCCCTCCCCGTGAGCCCCCCCGACCGCTCCCTCCC
CGTGAGTCCCCCGACCACTCCCTCCCTGTGAGCCCCCCCCGGACCACTCC
CTCCCTGTGAGTTCCCCCACCACTCCCTCCCTGTGAGCCCCCCACCACTC
CCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAACCCCCCACCACT
CCCTCCCCGTGAGGCCCCCC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049694
chr19:1049694 C
C
 G
G
 3 a0001c0001t0003g0016
a0001c0001t0003g0019
a0017c0017t0001g0027
a0001c0001t0003g0016
a0001c0001t0003g0019
a0017c0017t0001g0027
 3 HG00673.hp2
HG01071.hp2
NA19066.hp2
HG00673.hp2
HG01071.hp2
NA19066.hp2
 intron_variant MODIFIER c.2552+257C>G
c.2552+257C>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049694
chr19:1049700 C
C
 CGG
CGG
 2 a0003c0005t0002g0003
a0007c0021t0001g0001
a0003c0005t0002g0003
a0007c0021t0001g0001
 2 HG02451.hp1
HG02970.hp1
HG02451.hp1
HG02970.hp1
 intron_variant MODIFIER c.2552+263_2552+264i
others(4): Show 
c.2552+263_2552+264insGG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049700
chr19:1049700 C
C
 G
G
 3 a0001c0001t0003g0017
a0002c0003t0001g0009
a0002c0009t0001g0008
a0001c0001t0003g0017
a0002c0003t0001g0009
a0002c0009t0001g0008
 3 HG02071.hp2
NA20805.hp1
NA20805.hp2
HG02071.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.2552+263C>G
c.2552+263C>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049700
chr19:1049704 A
A
 G
G
 2 a0002c0003t0001g0009
a0002c0009t0001g0008
a0002c0003t0001g0009
a0002c0009t0001g0008
 2 NA20805.hp1
NA20805.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.2552+267A>G
c.2552+267A>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049704
chr19:1049714 C
C
 T
T
 3 a0003c0005t0002g0003
a0007c0021t0001g0001
a0012c0016t0001g0024
a0003c0005t0002g0003
a0007c0021t0001g0001
a0012c0016t0001g0024
 3 HG02451.hp1
HG02970.hp1
NA18983.hp1
HG02451.hp1
HG02970.hp1
NA18983.hp1
 intron_variant MODIFIER c.2552+277C>T
c.2552+277C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049714
chr19:1049718 AG
AG
 A
A
 3 a0006c0020t0002g0020
a0007c0021t0001g0001
a0019c0012t0001g0026
a0006c0020t0002g0020
a0007c0021t0001g0001
a0019c0012t0001g0026
 3 HG02451.hp1
HG02970.hp2
HG03688.hp2
HG02451.hp1
HG02970.hp2
HG03688.hp2
 intron_variant MODIFIER c.2552+283delG
c.2552+283delG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049718
chr19:1049719 G
G
 GCCCCCCC
others(95): Show 
GCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCAT
GAACCCCCCACCACTCCCTCCCCGTGAACCCCCCCACCACTCCCTCCCCG
TGA
 1 a0005c0022t0001g0004
a0005c0022t0001g0004
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.2552+282_2552+283i
others(104): Show 
c.2552+282_2552+283insCCCCCCCACCACTCCCTCCCCGTGAGGC
CCCCCACCACTCCCTCCCCATGAACCCCCCACCACTCCCTCCCCGTGAAC
CCCCCCACCACTCCCTCCCCGTGA
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049719
chr19:1049719 G
G
 GCCCCCCG
others(253): Show 
GCCCCCCGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGT
GAGCCCCCCGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCT
GTGAGCCCCCCCACCACTCCCTCCCCCGTGAGCCCCCCCCACCACTCCCT
CCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCC
TCCCCGTGAGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCC
CTCCCCGTGAG
 1 a0001c0001t0003g0016
a0001c0001t0003g0016
 1 HG00673.hp2
HG00673.hp2
 intron_variant MODIFIER c.2552+282_2552+283i
others(262): Show 
c.2552+282_2552+283insCCCCCCGACCACTCCCTCCCCGTGAGGC
CCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCACTCCCTCCCCGTGAG
GCCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTCCCCCGT
GAGCCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCC
CGTGAGCCCCCCCACCACTCCTCCCCGTGAGCCCCCCACCACTCCCTCCC
CGTGAGCCCCCCCACCACTCCCTCCCCGTGAG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049719
chr19:1049720 G
G
 A
A
 3 a0005c0022t0001g0004
a0006c0020t0002g0020
a0019c0012t0001g0026
a0005c0022t0001g0004
a0006c0020t0002g0020
a0019c0012t0001g0026
 3 HG02451.hp2
HG02970.hp2
HG03688.hp2
HG02451.hp2
HG02970.hp2
HG03688.hp2
 intron_variant MODIFIER c.2552+283G>A
c.2552+283G>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049720
chr19:1049720 G
G
 C
C
 6 a0001c0001t0003g0016
a0003c0005t0002g0003
a0008c0006t0002g0006
others(3): Show 
a0001c0001t0003g0016
a0003c0005t0002g0003
a0008c0006t0002g0006
a0009c0007t0002g0005
a0012c0016t0001g0024
a0016c0014t0002g0025
 6 HG00673.hp2
HG02970.hp1
NA18983.hp1
others(3): Show 
HG00673.hp2
HG02970.hp1
NA18983.hp1
NA18983.hp2
NA19066.hp1
NA19079.hp2
 intron_variant MODIFIER c.2552+283G>C
c.2552+283G>C
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049720
chr19:1049720 G
G
 GCCCCCCA
others(666): Show 
GCCCCCCACCACTCCCTCCCTGTGAACCCCCCACCACTCCCTCCCCGTGA
GTCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCTGTGA
GCCCCCCCGGACCACTCCCTCCCTGTGAACCCCCCACCACTCCCTCCCTG
TGAGCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCC
TGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCC
TGTGAACCCCCCACCACTCCCTCCCTGTGAGCCTCCCCACCACTCCCTCC
CTGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTC
CCCGTGAACCCCCCACCACTCCCTCCCTGTGAGCCCCCCCGGACCACTCC
CTCCCCGTGAGCCCCCCCACCACTCCCTCCCTGTGAACCCCCCACCACTC
CCTCCCTGTGAGCCCCCCCGGACCACTCCCTCCCCGTGAGCCCCCCCACC
ACTCCCTCCCTGTGAACCCCCCACCACTCCCTCCCTGTGAGCCCCCCCGG
ACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAACCCCC
CACCACTCCCTCCCTGTGAGCCCCCCCGGACCACTCCCTCCCCGTGAGCC
CCCCACCACTCCCTCCCTGTGAGC
 1 a0002c0011t0001g0012
a0002c0011t0001g0012
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2552+302_2552+303i
others(675): Show 
c.2552+302_2552+303insTGTGAACCCCCCACCACTCCCTCCCCGT
GAGTCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCTGT
GAGCCCCCCCGGACCACTCCCTCCCTGTGAACCCCCCACCACTCCCTCCC
TGTGAGCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTC
CCTGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTC
CCTGTGAACCCCCCACCACTCCCTCCCTGTGAGCCTCCCCACCACTCCCT
CCCTGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCC
TCCCCGTGAACCCCCCACCACTCCCTCCCTGTGAGCCCCCCCGGACCACT
CCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCTGTGAACCCCCCACCAC
TCCCTCCCTGTGAGCCCCCCCGGACCACTCCCTCCCCGTGAGCCCCCCCA
CCACTCCCTCCCTGTGAACCCCCCACCACTCCCTCCCTGTGAGCCCCCCC
GGACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAACCC
CCCACCACTCCCTCCCTGTGAGCCCCCCCGGACCACTCCCTCCCCGTGAG
CCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTCCC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049720
chr19:1049726 C
C
 A
A
 1 a0002c0003t0001g0007
a0002c0003t0001g0007
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.2552+289C>A
c.2552+289C>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049726
chr19:1049726 C
C
 G
G
 2 a0003c0005t0002g0003
a0007c0021t0001g0001
a0003c0005t0002g0003
a0007c0021t0001g0001
 2 HG02451.hp1
HG02970.hp1
HG02451.hp1
HG02970.hp1
 intron_variant MODIFIER c.2552+289C>G
c.2552+289C>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049726
chr19:1049740 C
C
 T
T
 8 a0001c0001t0003g0017
a0002c0003t0001g0009
a0002c0009t0001g0008
others(5): Show 
a0001c0001t0003g0017
a0002c0003t0001g0009
a0002c0009t0001g0008
a0003c0005t0002g0003
a0007c0021t0001g0001
a0015c0018t0001g0028
a0018c0015t0001g0022
a0019c0012t0001g0026
 8 HG02071.hp2
HG02451.hp1
HG02970.hp1
others(5): Show 
HG02071.hp2
HG02451.hp1
HG02970.hp1
HG03688.hp1
HG03688.hp2
NA18970.hp1
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.2552+303C>T
c.2552+303C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049740
chr19:1049744 A
A
 AG
AG
 5 a0008c0006t0002g0006
a0009c0007t0002g0005
a0014c0019t0002g0029
others(2): Show 
a0008c0006t0002g0006
a0009c0007t0002g0005
a0014c0019t0002g0029
a0016c0014t0002g0025
a0019c0012t0001g0026
 5 HG02071.hp1
HG03688.hp2
NA18983.hp2
others(2): Show 
HG02071.hp1
HG03688.hp2
NA18983.hp2
NA19066.hp1
NA19079.hp2
 intron_variant MODIFIER c.2552+307_2552+308i
others(3): Show 
c.2552+307_2552+308insG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049744
chr19:1049745 A
A
 ACCCACCA
others(1864): Show 
ACCCACCACTCCCTCCCCGTGAACCCCCCCACCACTCCCTCCCCGTGAGC
CCCCCCACCACTCCCTCCCTGTGAACCCCCCACCACTCCCTCCCTGTGAA
CCCACCACTCCCTCCCCGTGAACCCCCCCACCACTCCCTCCCCGTGAGCC
CCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCTGTGAAC
CCACCACTCCCTCCCCGTGAACCCCCCCACCACTCCCTCCCCGTGAGCCC
CCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCTGTGAGCC
CCCAACCACTCCCTACCTGTGAACCCCCCGACCACTCCCTCCCTGTGAGC
CCCCCCGGACCACTCCCTCCCTGTGAGTTCCCCCACCGCTCCCTCCCTGT
GAGTCCCCCACCACTCCCTCCCTGTGAGTCCCCCACCACTCCCTCCCTGT
GAGCCCCCCCACCACTCCCTCCCTGTGAGGCCCCCACCACTCCCTCCCCG
TGAGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCC
GTGAGCCCCCCGACCGCTCCCTCCCCGTGAGTCCCCCGACCACTCCCTCC
CCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGTCCCCCACCACTCCCTC
CCTGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCGACCGCTCCCT
CCCCGTGAGTCCCCCGACCACTCCCTCCCCGTGAGCCCCCCCACCACTCC
CTCCCCGTGAGTCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTC
CCTCCCTGTGAGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACT
CCCTCCCTGTGAGCCCCCCCACCACTCCCTCCCTGTGAGCCCCCCACCAC
TCCCTCCCTGTGAGCCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCA
CTCCCTCCCCGTGAACCCCCCCACCACTCCCTCCCCGTGAGCCCCCCGAC
CGCTCCCTCCCTGTGAGCCCCCCCGGACCACTCCCTCCCTGTGAGTTCCC
CCACCACTCCCTCTCTGTGAGTTCCCCCACCGCTCCCTCCCTGTGAGTCC
CCCACCACTCCCTCCCCGTGAGCCCCCCGACCGCTCCCTCCCCGTGAGTC
CCCCGACCGCTCCCTCCCTGTGAGCCCCCCCGGACCACTCCCTCCCTGTG
AGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCTGTG
AGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCTGTG
AGTCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTCCCTGT
GAGTCCCCCACCACTCCCCTCCCTCCCTGTGAGCCCCCCCACCACTCCCT
CCCTGTGAGTCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCC
TCCCTGTGAGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCACCACTCCC
TCCCTGTGAGTCCCCCGACCACTCCCTCCCTGTGAGTCCCCCGACCACTC
CCTCCCTGTGAGCCCCCCCGACCGCTCCCTCCCCGTGAGTCCCCCGACCA
CTCCCTCCCTGTGAGCCCCCCCGGACCACTCCCTCCCTGTGAGCCCCCAA
CCACTCCCTCCCTGTGAGCCCCCAACCACTCCCTACCTGTGAACCCCCCG
ACCACTCCCTCCCTGTGAGCCCCCCCGGACCACTCCCTCCCCGTGAGTCC
CCCACCACTCCCTCCCCGTGAGCCCCCACCACTCCCTCCCTGTGAGTCCC
CCACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCTGTGAGCCCC
CCACCACTCCCTCCCTGTGAGC
 1 a0006c0020t0002g0020
a0006c0020t0002g0020
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.2552+311_2552+312i
others(1873): Show 
c.2552+311_2552+312insACCACTCCCTCCCCGTGAACCCCCCCAC
CACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCTGTGAACCCCCCA
CCACTCCCTCCCTGTGAACCCACCACTCCCTCCCCGTGAACCCCCCCACC
ACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAACCCCCCAC
CACTCCCTCCCTGTGAACCCACCACTCCCTCCCCGTGAACCCCCCCACCA
CTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAACCCCCCACC
ACTCCCTCCCTGTGAGCCCCCAACCACTCCCTACCTGTGAACCCCCCGAC
CACTCCCTCCCTGTGAGCCCCCCCGGACCACTCCCTCCCTGTGAGTTCCC
CCACCGCTCCCTCCCTGTGAGTCCCCCACCACTCCCTCCCTGTGAGTCCC
CCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTCCCTGTGAGGCC
CCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGTGAGCCC
CCCCACCACTCCCTCCCCGTGAGCCCCCCGACCGCTCCCTCCCCGTGAGT
CCCCCGACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGA
GTCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTCCCCGTG
AGCCCCCGACCGCTCCCTCCCCGTGAGTCCCCCGACCACTCCCTCCCCGT
GAGCCCCCCCACCACTCCCTCCCCGTGAGTCCCCCACCACTCCCTCCCTG
TGAGCCCCCCCACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCT
GTGAGCCCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTCC
CTGTGAGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTC
CCCGTGAACCCCCCACCACTCCCTCCCCGTGAACCCCCCCACCACTCCCT
CCCCGTGAGCCCCCCGACCGCTCCCTCCCTGTGAGCCCCCCCGGACCACT
CCCTCCCTGTGAGTTCCCCCACCACTCCCTCTCTGTGAGTTCCCCCACCG
CTCCCTCCCTGTGAGTCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACC
GCTCCCTCCCCGTGAGTCCCCCGACCGCTCCCTCCCTGTGAGCCCCCCCG
GACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCCGTGAGCCCCC
CACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCCGTGAGCCCCC
CACCACTCCCTCCCTGTGAGTCCCCCACCACTCCCTCCCTGTGAGCCCCC
CCACCACTCCCTCCCTGTGAGTCCCCCACCACTCCCCTCCCTCCCTGTGA
GCCCCCCCACCACTCCCTCCCTGTGAGTCCCCCACCACTCCCTCCCTGTG
AGCCCCCCCACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCTGT
GAGCCCCCCACCACTCCCTCCCTGTGAGTCCCCCGACCACTCCCTCCCTG
TGAGTCCCCCGACCACTCCCTCCCTGTGAGCCCCCCCGACCGCTCCCTCC
CCGTGAGTCCCCCGACCACTCCCTCCCTGTGAGCCCCCCCGGACCACTCC
CTCCCTGTGAGCCCCCAACCACTCCCTCCCTGTGAGCCCCCAACCACTCC
CTACCTGTGAACCCCCCGACCACTCCCTCCCTGTGAGCCCCCCCGGACCA
CTCCCTCCCCGTGAGTCCCCCACCACTCCCTCCCCGTGAGCCCCCACCAC
TCCCTCCCTGTGAGTCCCCCACCACTCCCTCCCTGTGAGCCCCCCACCAC
TCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCTGTGAGCCCC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049745
chr19:1049745 A
A
 C
C
 5 a0008c0006t0002g0006
a0009c0007t0002g0005
a0014c0019t0002g0029
others(2): Show 
a0008c0006t0002g0006
a0009c0007t0002g0005
a0014c0019t0002g0029
a0016c0014t0002g0025
a0019c0012t0001g0026
 5 HG02071.hp1
HG03688.hp2
NA18983.hp2
others(2): Show 
HG02071.hp1
HG03688.hp2
NA18983.hp2
NA19066.hp1
NA19079.hp2
 intron_variant MODIFIER c.2552+308A>C
c.2552+308A>C
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049745
chr19:1049745 A
A
 G
G
 8 a0001c0001t0003g0016
a0001c0001t0003g0017
a0002c0003t0001g0007
others(5): Show 
a0001c0001t0003g0016
a0001c0001t0003g0017
a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
a0003c0005t0002g0003
a0007c0021t0001g0001
a0017c0017t0001g0027
 8 HG00673.hp2
HG01071.hp2
HG02071.hp2
others(5): Show 
HG00673.hp2
HG01071.hp2
HG02071.hp2
HG02451.hp1
HG02970.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.2552+308A>G
c.2552+308A>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049745
chr19:1049751 C
C
 CGG
CGG
 2 a0003c0005t0002g0003
a0007c0021t0001g0001
a0003c0005t0002g0003
a0007c0021t0001g0001
 2 HG02451.hp1
HG02970.hp1
HG02451.hp1
HG02970.hp1
 intron_variant MODIFIER c.2552+314_2552+315i
others(4): Show 
c.2552+314_2552+315insGG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049751
chr19:1049765 C
C
 T
T
 6 a0002c0011t0001g0012
a0003c0005t0002g0003
a0004c0004t0001g0023
others(3): Show 
a0002c0011t0001g0012
a0003c0005t0002g0003
a0004c0004t0001g0023
a0007c0021t0001g0001
a0012c0016t0001g0024
a0017c0017t0001g0027
 6 HG00673.hp1
HG01071.hp2
HG02451.hp1
others(3): Show 
HG00673.hp1
HG01071.hp2
HG02451.hp1
HG02970.hp1
NA18983.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2552+328C>T
c.2552+328C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049765
chr19:1049769 AG
AG
 A
A
 3 a0001c0001t0003g0019
a0003c0005t0002g0002
a0019c0012t0001g0026
a0001c0001t0003g0019
a0003c0005t0002g0002
a0019c0012t0001g0026
 3 HG02145.hp2
HG03688.hp2
NA19066.hp2
HG02145.hp2
HG03688.hp2
NA19066.hp2
 intron_variant MODIFIER c.2552+333delG
c.2552+333delG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049769
chr19:1049770 G
G
 A
A
 1 a0017c0017t0001g0027
a0017c0017t0001g0027
 1 HG01071.hp2
HG01071.hp2
 intron_variant MODIFIER c.2552+333G>A
c.2552+333G>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049770
chr19:1049770 G
G
 GCCCCCCG
others(47): Show 
GCCCCCCGACCACTCCCTCCCTGTGAGCCTCCCCGGACCACTCCCTACCT
GTGAA
 1 a0003c0005t0002g0003
a0003c0005t0002g0003
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.2552+339_2552+340i
others(56): Show 
c.2552+339_2552+340insGACCACTCCCTCCCTGTGAGCCTCCCCG
GACCACTCCCTACCTGTGAACCCCCC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049770
chr19:1049771 C
C
 A
A
 3 a0001c0001t0003g0019
a0003c0005t0002g0002
a0019c0012t0001g0026
a0001c0001t0003g0019
a0003c0005t0002g0002
a0019c0012t0001g0026
 3 HG02145.hp2
HG03688.hp2
NA19066.hp2
HG02145.hp2
HG03688.hp2
NA19066.hp2
 intron_variant MODIFIER c.2552+334C>A
c.2552+334C>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049771
chr19:1049771 C
C
 G
G
 4 a0001c0001t0003g0017
a0002c0003t0001g0009
a0002c0009t0001g0008
others(1): Show 
a0001c0001t0003g0017
a0002c0003t0001g0009
a0002c0009t0001g0008
a0005c0022t0001g0004
 4 HG02071.hp2
HG02451.hp2
NA20805.hp1
others(1): Show 
HG02071.hp2
HG02451.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.2552+334C>G
c.2552+334C>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049771
chr19:1049772 C
C
 G
G
 1 a0002c0003t0001g0007
a0002c0003t0001g0007
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.2552+335C>G
c.2552+335C>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049772
chr19:1049777 C
C
 G
G
 2 a0003c0005t0002g0003
a0007c0021t0001g0001
a0003c0005t0002g0003
a0007c0021t0001g0001
 2 HG02451.hp1
HG02970.hp1
HG02451.hp1
HG02970.hp1
 intron_variant MODIFIER c.2552+340C>G
c.2552+340C>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049777
chr19:1049791 C
C
 T
T
 8 a0001c0001t0003g0017
a0002c0003t0001g0009
a0002c0009t0001g0008
others(5): Show 
a0001c0001t0003g0017
a0002c0003t0001g0009
a0002c0009t0001g0008
a0002c0011t0001g0012
a0003c0005t0002g0003
a0004c0004t0001g0023
a0007c0021t0001g0001
a0012c0016t0001g0024
 8 HG00673.hp1
HG02071.hp2
HG02451.hp1
others(5): Show 
HG00673.hp1
HG02071.hp2
HG02451.hp1
HG02970.hp1
NA18983.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2552+354C>T
c.2552+354C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049791
chr19:1049792 G
G
 A
A
 1 a0001c0001t0003g0019
a0001c0001t0003g0019
 1 NA19066.hp2
NA19066.hp2
 intron_variant MODIFIER c.2552+355G>A
c.2552+355G>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049792
chr19:1049795 A
A
 AG
AG
 2 a0008c0006t0002g0006
a0014c0019t0002g0029
a0008c0006t0002g0006
a0014c0019t0002g0029
 2 HG02071.hp1
NA18983.hp2
HG02071.hp1
NA18983.hp2
 intron_variant MODIFIER c.2552+358_2552+359i
others(3): Show 
c.2552+358_2552+359insG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049795
chr19:1049795 A
A
 AGGCCCCC
others(126): Show 
AGGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCGCTCCCTCCCCG
TGAGCCCCCCGACCGCTCCCTCCCTGTGAGCCTCCCCGGACCACTCCCTC
CCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAG
 1 a0015c0018t0001g0028
a0015c0018t0001g0028
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.2552+358_2552+359i
others(135): Show 
c.2552+358_2552+359insGGCCCCCCACCACTCCCTCCCCGTGAGC
CCCCCGACCGCTCCCTCCCCGTGAGCCCCCCGACCGCTCCCTCCCTGTGA
GCCTCCCCGGACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCC
GTGAG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049795
chr19:1049796 A
A
 C
C
 1 a0008c0006t0002g0006
a0008c0006t0002g0006
 1 NA18983.hp2
NA18983.hp2
 intron_variant MODIFIER c.2552+359A>C
c.2552+359A>C
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049796
chr19:1049796 A
A
 G
G
 9 a0001c0001t0003g0016
a0003c0005t0002g0003
a0004c0004t0001g0021
others(6): Show 
a0001c0001t0003g0016
a0003c0005t0002g0003
a0004c0004t0001g0021
a0007c0021t0001g0001
a0009c0007t0002g0005
a0014c0019t0002g0029
a0015c0018t0001g0028
a0016c0014t0002g0025
a0018c0015t0001g0022
 9 HG00673.hp2
HG02071.hp1
HG02145.hp1
others(6): Show 
HG00673.hp2
HG02071.hp1
HG02145.hp1
HG02451.hp1
HG02970.hp1
HG03688.hp1
NA18970.hp1
NA19066.hp1
NA19079.hp2
 intron_variant MODIFIER c.2552+359A>G
c.2552+359A>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049796
chr19:1049799 C
C
 T
T
 1 a0007c0021t0001g0001
a0007c0021t0001g0001
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.2552+362C>T
c.2552+362C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049799
chr19:1049813 C
C
 A
A
 1 a0007c0021t0001g0001
a0007c0021t0001g0001
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.2552+376C>A
c.2552+376C>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049813
chr19:1049816 C
C
 T
T
 7 a0003c0005t0002g0003
a0004c0004t0001g0021
a0007c0021t0001g0001
others(4): Show 
a0003c0005t0002g0003
a0004c0004t0001g0021
a0007c0021t0001g0001
a0009c0007t0002g0005
a0014c0019t0002g0029
a0018c0015t0001g0022
a0019c0012t0001g0026
 7 HG02071.hp1
HG02145.hp1
HG02451.hp1
others(4): Show 
HG02071.hp1
HG02145.hp1
HG02451.hp1
HG02970.hp1
HG03688.hp2
NA18970.hp1
NA19079.hp2
 intron_variant MODIFIER c.2552+379C>T
c.2552+379C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049816
chr19:1049821 G
G
 A
A
 1 a0007c0021t0001g0001
a0007c0021t0001g0001
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.2552+384G>A
c.2552+384G>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049821
chr19:1049822 C
C
 A
A
 1 a0002c0003t0001g0007
a0002c0003t0001g0007
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.2552+385C>A
c.2552+385C>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049822
chr19:1049822 C
C
 CCCCCCCA
others(18): Show 
CCCCCCCACCACTCCCTCCCCGTGAG
 1 a0008c0006t0002g0006
a0008c0006t0002g0006
 1 NA18983.hp2
NA18983.hp2
 intron_variant MODIFIER c.2552+404_2552+405i
others(27): Show 
c.2552+404_2552+405insCGTGAGCCCCCCACCACTCCCTCCC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049822
chr19:1049822 C
C
 CCCCCCGA
others(98): Show 
CCCCCCGACCGCTCCCTCCCTGTGAGTCCCCCGACCACTCCCTCCCTTTG
AGCCCCCCCGGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCC
CATGAA
 1 a0016c0014t0002g0025
a0016c0014t0002g0025
 1 NA19066.hp1
NA19066.hp1
 intron_variant MODIFIER c.2552+390_2552+391i
others(107): Show 
c.2552+390_2552+391insGACCGCTCCCTCCCTGTGAGTCCCCCGA
CCACTCCCTCCCTTTGAGCCCCCCCGGACCACTCCCTCCCCGTGAGGCCC
CCCACCACTCCCTCCCCATGAACCCCC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049822
chr19:1049822 C
C
 G
G
 2 a0001c0001t0003g0017
a0017c0017t0001g0027
a0001c0001t0003g0017
a0017c0017t0001g0027
 2 HG01071.hp2
HG02071.hp2
HG01071.hp2
HG02071.hp2
 intron_variant MODIFIER c.2552+385C>G
c.2552+385C>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049822
chr19:1049822 C
C
 T
T
 1 a0012c0016t0001g0024
a0012c0016t0001g0024
 1 NA18983.hp1
NA18983.hp1
 intron_variant MODIFIER c.2552+385C>T
c.2552+385C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049822
chr19:1049823 C
C
 CCCCCACC
others(1845): Show 
CCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGC
CCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGA
ACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCAGCACTCCCTCCCCGTG
AACCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGTG
AGCCCCCCCACCACTCCCTCCCCATGAACCCCCCACCACTCCCTCCCCGT
GAGCCCCCCGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCT
GTGAGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCC
GTGAGCCCCCCGACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCC
TGTGAGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCC
CGTGAGCCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCC
CTGTGAGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTC
CCTGTGAACCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCT
CCCCGTGAACCCCCCACCACTCCCTCCCTGTGAACCCCCCGACCACTCCC
TCCCCGTGAACCCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCACTC
CCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCGACCAC
TCCCTCCCTTTGAGCCCCCCCGGACCACTCCCTCCCTGTGAGTTCCCCCA
CCGCTCCCTCCCTGTGAGTCCCCCACCACTCCCTCCCTGTGAGCCCCCCC
ACCACTCCCTCCCCGTGAACCCCCCCACCACTCCCTCCCTGTGAACCCCC
CGACCACTCCCTCCCCGTGAACCCCCCCACCACTCCCTCCCCGTGAGGCC
CCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGTGAGCCC
CCCGACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGC
CCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGA
GCCCCCCGACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGT
GAGCCCCCCGACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCC
GTGAGCCCCCCGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCC
CTGTGAGCCCCCCGACCACTCCCTCCCTGTGAGCCCCCCCGGACCACTCC
CTCCCTGTGAGTTCCCCCACCGCTCCCTCCCTGTGAGTCCCCCACCACTC
CCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCAC
TCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCA
CTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCAC
CACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCTGTGAGTCCCCCA
CCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAACCCCCC
ACCACTCCCTCCCCGTGAGCCCCCCGACCACTCCCTCCCCGTGAGGCCCC
CCACCACTCCCTCCCTGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCC
CCCCACCACTCCCTCCCTGTGAACCCCCCACCACTCCCTCCCCGTGAGCC
CCCCGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAG
CCCCCCACCGCTCCCTCCCTGTGAGTCCCCCCACCACTCCCTCCCCGTGA
GTT
 1 a0001c0001t0003g0015
a0001c0001t0003g0015
 1 HG01071.hp1
HG01071.hp1
 intron_variant MODIFIER c.2552+390_2552+391i
others(1854): Show 
c.2552+390_2552+391insACCACTCCCTCCCCGTGAACCCCCCACC
ACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCA
CCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCC
AGCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCC
ACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCATGAACCCCC
CACCACTCCCTCCCCGTGAGCCCCCCGACCACTCCCTCCCCGTGAGGCCC
CCCACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCCGTGAGCCC
CCCACCACTCCCTCCCCGTGAGCCCCCCGACCACTCCCTCCCCGTGAACC
CCCCACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCCGTGAACC
CCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAAC
CCCCCACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCCGTGAGC
CCCCCCACCACTCCCTCCCTGTGAACCCCCCACCACTCCCTCCCTGTGAG
CCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCTGTGA
ACCCCCCGACCACTCCCTCCCCGTGAACCCCCCCACCACTCCCTCCCCGT
GAGCCCCCCGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCT
GTGAGCCCCCCGACCACTCCCTCCCTTTGAGCCCCCCCGGACCACTCCCT
CCCTGTGAGTTCCCCCACCGCTCCCTCCCTGTGAGTCCCCCACCACTCCC
TCCCTGTGAGCCCCCCCACCACTCCCTCCCCGTGAACCCCCCCACCACTC
CCTCCCTGTGAACCCCCCGACCACTCCCTCCCCGTGAACCCCCCCACCAC
TCCCTCCCCGTGAGGCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCAC
TCCCTCCCCGTGAGCCCCCCGACCACTCCCTCCCCGTGAGCCCCCCCACC
ACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCA
CCACTCCCTCCCCGTGAGCCCCCCGACCACTCCCTCCCCGTGAGCCCCCC
CACCACTCCCTCCCCGTGAGCCCCCCGACCACTCCCTCCCCGTGAGCCCC
CCCACCACTCCCTCCCCGTGAGCCCCCCGACCACTCCCTCCCCGTGAGGC
CCCCCACCACTCCCTCCCTGTGAGCCCCCCGACCACTCCCTCCCTGTGAG
CCCCCCCGGACCACTCCCTCCCTGTGAGTTCCCCCACCGCTCCCTCCCTG
TGAGTCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCC
GTGAGGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCC
CGTGAGCCCCCCGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTC
CCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCC
TCCCTGTGAGTCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCC
CTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCACTC
CCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAGGCCCCCCACCAC
TCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCTGTGAACCCCCCACCA
CTCCCTCCCCGTGAGCCCCCCGACCACTCCCTCCCCGTGAGGCCCCCCAC
CACTCCCTCCCTGTGAGCCCCCCACCGCTCCCTCCCTGTGAGTCCCCCCA
CCACTCCCTCCCCGTGAGTTCCCC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049823
chr19:1049823 C
C
 T
T
 1 a0003c0005t0002g0003
a0003c0005t0002g0003
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.2552+386C>T
c.2552+386C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049823
chr19:1049828 C
C
 CACCACTC
others(276): Show 
CACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCTGTGAGCCCCC
CCGGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAAC
CCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGTGAAC
CCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTCCCTGTGAA
CCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGA
GCCCCCCGACCGCTCCCTCCCCGTGAGTCCCCCG
 1 a0018c0015t0001g0022
a0018c0015t0001g0022
 1 NA18970.hp1
NA18970.hp1
 intron_variant MODIFIER c.2552+404_2552+405i
others(285): Show 
c.2552+404_2552+405insCGTGAACCCCCCACCACTCCCTCCCTGT
GAGCCCCCCCGGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCC
CTGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCC
CCGTGAACCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTC
CCTGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCT
CCCCGTGAGCCCCCCGACCGCTCCCTCCCCGTGAGTCCCCCGACCACTCC
CTCCC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049828
chr19:1049828 C
C
 CACCACTC
others(1082): Show 
CACCACTCCCTCCCCGTGAACCCCCCCACCACTCCCTCCCTGTGAGCCCC
CCCGGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAA
CCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGTGAG
CCCCCCCGGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCCTCCCC
TGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCC
CGTGAACCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTCC
CCGTGAGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTC
CCCGTGAGCCCCCCACCACTCCCTCCCTGTGAGTCCCCCACCACTCCCTC
CCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAACCCCCCACCACTCCCC
TCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCC
CTCCCTGTGAACCCCCCACCACTCCCCTCCCCGTGAGCCCCCCCACCACT
CCCTCCCCGTGAACCCCCCCACCACTCCCCTCCCTGTGAGCCCCCCCACC
ACTCCCTCCCCGTGAACCCCCCCACCACTCCCTCCCTGTGAGCCCCCCCC
ACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAACCCCC
CACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCC
CCACCACTCCCTCCCCTGTGAGCCCCCCCCACCACTCCCTCCCCGTGAAC
CCCCCACCACTCCCTCCCTGTGAGCCCCCCCGGACCACTCCCTCCCCGTG
AGGCCCCCCACCACTCCCTCCCTGTGAACCCCCCCACCTCCCTCCCCGTG
AGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCTGTG
AGCCCCCCCCACCACTCCCTCCCTGTGAACCCCCCACCACTCCCTCCCTG
TGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCC
GTGAGCCCCCCGACCGCTCCCCTCCCCGTGAGTCCCCCCG
 1 a0004c0004t0001g0021
a0004c0004t0001g0021
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.2552+404_2552+405i
others(1091): Show 
c.2552+404_2552+405insCGTGAACCCCCCCACCACTCCCTCCCTG
TGAGCCCCCCCGGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTC
CCTGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTC
CCCGTGAGCCCCCCCGGACCACTCCCTCCCCGTGAGGCCCCCCACCACTC
CCCTCCCCTGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCAC
TCCCTCCCCGTGAACCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCA
CTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACC
ACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCTGTGAGTCCCCCACC
ACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAACCCCCCAC
CACTCCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAACCCCCC
ACCACTCCCTCCCTGTGAACCCCCCACCACTCCCCTCCCCGTGAGCCCCC
CCACCACTCCCTCCCCGTGAACCCCCCCACCACTCCCCTCCCTGTGAGCC
CCCCCACCACTCCCTCCCCGTGAACCCCCCCACCACTCCCTCCCTGTGAG
CCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGT
GAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCG
TGAGCCCCCCACCACTCCCTCCCCTGTGAGCCCCCCCCACCACTCCCTCC
CCGTGAACCCCCCACCACTCCCTCCCTGTGAGCCCCCCCGGACCACTCCC
TCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAACCCCCCCACCTCCC
TCCCCGTGAGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCC
TCCCTGTGAGCCCCCCCCACCACTCCCTCCCTGTGAACCCCCCACCACTC
CCTCCCTGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACT
CCCTCCCCGTGAGCCCCCCGACCGCTCCCCTCCCCGTGAGTCCCCCCGAC
CACTCCCTCCC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049828
chr19:1049828 C
C
 G
G
 3 a0007c0021t0001g0001
a0009c0007t0002g0005
a0012c0016t0001g0024
a0007c0021t0001g0001
a0009c0007t0002g0005
a0012c0016t0001g0024
 3 HG02451.hp1
NA18983.hp1
NA19079.hp2
HG02451.hp1
NA18983.hp1
NA19079.hp2
 intron_variant MODIFIER c.2552+391C>G
c.2552+391C>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049828
chr19:1049838 T
T
 TC
TC
 2 a0001c0001t0003g0016
a0004c0004t0001g0023
a0001c0001t0003g0016
a0004c0004t0001g0023
 2 HG00673.hp1
HG00673.hp2
HG00673.hp1
HG00673.hp2
 intron_variant MODIFIER c.2552+404dupC
c.2552+404dupC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049838
chr19:1049842 T
T
 C
C
 15 a0001c0001t0003g0016
a0001c0001t0003g0018
a0001c0001t0003g0019
others(12): Show 
a0001c0001t0003g0016
a0001c0001t0003g0018
a0001c0001t0003g0019
a0002c0003t0001g0009
a0002c0009t0001g0008
a0002c0011t0001g0012
a0003c0005t0002g0002
a0004c0004t0001g0023
a0005c0022t0001g0004
a0006c0020t0002g0020
a0012c0016t0001g0024
a0014c0019t0002g0029
a0015c0018t0001g0028
a0017c0017t0001g0027
a0019c0012t0001g0026
 15 HG00673.hp1
HG00673.hp2
HG01071.hp2
others(12): Show 
HG00673.hp1
HG00673.hp2
HG01071.hp2
HG02071.hp1
HG02145.hp2
HG02451.hp2
HG02970.hp2
HG03688.hp1
HG03688.hp2
NA18983.hp1
NA19066.hp2
NA19079.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2552+405T>C
c.2552+405T>C
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049842
chr19:1049847 G
G
 A
A
 2 a0001c0001t0003g0017
a0019c0012t0001g0026
a0001c0001t0003g0017
a0019c0012t0001g0026
 2 HG02071.hp2
HG03688.hp2
HG02071.hp2
HG03688.hp2
 intron_variant MODIFIER c.2552+410G>A
c.2552+410G>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049847
chr19:1049848 C
C
 CCCCCCCA
others(1460): Show 
CCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGA
GGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCACCACTCCCTCCCCGTG
AACCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGT
GAGCCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCTG
TGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCC
GTGAGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCC
TGTGAGCCCCCCCGGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCC
TCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCC
TCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTC
CCTCCCCGTGAACCCCCCACCACTCCCTCCCTGTGAGCCCCCCCGGACCA
CTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACC
ACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCA
CCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCC
ACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAACCCCC
CACCACTCCCTCCCTGTGAGCCCCCCCGGACCACTCCCTCCCCGTGAGGC
CCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGG
CCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGA
ACCCCCCACCACTCCCTCCCTGTGAGCCCCCCCGGACCACTCCCTCCCCG
TGAGGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCC
GTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCC
GTGAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCC
CGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCC
CCGTGAACCCCCCGACCGCTCCCTCCCCGTGAGTCCCCCACCACTCCCTC
CCTGTGAACCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCT
CCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCC
TCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAACCCCCCGACCGCTC
CCTCCCCGTGAGTCCCCCGACCACTCCCTCCCCGTGAGCCCCCCGACCGC
TCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACC
ACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCA
CCACTCCCTCCCCGTGAA
 1 a0017c0017t0001g0027
a0017c0017t0001g0027
 1 HG01071.hp2
HG01071.hp2
 intron_variant MODIFIER c.2552+416_2552+417i
others(1469): Show 
c.2552+416_2552+417insCACCACTCCCTCCCCGTGAACCCCCCAC
CACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCA
CCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCC
ACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAACCCCC
CACCACTCCCTCCCTGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCC
CCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGTGAGGCCC
CCCACCACTCCCTCCCTGTGAGCCCCCCCGGACCACTCCCTCCCCGTGAG
GCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGA
ACCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTG
AGGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCTGT
GAGCCCCCCCGGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCC
CCGTGAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTC
CCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCT
CCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCC
CTCCCCGTGAACCCCCCACCACTCCCTCCCTGTGAGCCCCCCCGGACCAC
TCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCA
CTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCAC
CACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCTGTGAGCCCCCCCG
GACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAACCCC
CCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCC
CCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGGCCC
CCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCC
CCCCACCACTCCCTCCCCGTGAACCCCCCGACCGCTCCCTCCCCGTGAGT
CCCCCACCACTCCCTCCCTGTGAACCCCCCCACCACTCCCTCCCCGTGAA
CCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGA
ACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTG
AACCCCCCGACCGCTCCCTCCCCGTGAGTCCCCCGACCACTCCCTCCCCG
TGAGCCCCCCGACCGCTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCC
CGTGAGCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTC
CCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAACCCCC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049848
chr19:1049848 C
C
 T
T
 1 a0003c0005t0002g0003
a0003c0005t0002g0003
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.2552+411C>T
c.2552+411C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049848
chr19:1049853 CG
CG
 C
C
 5 a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0017
others(2): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0017
a0001c0001t0003g0019
a0003c0005t0002g0003
 5 HG00673.hp2
HG01071.hp1
HG02071.hp2
others(2): Show 
HG00673.hp2
HG01071.hp1
HG02071.hp2
HG02970.hp1
NA19066.hp2
 intron_variant MODIFIER c.2552+417delG
c.2552+417delG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049853
chr19:1049854 G
G
 C
C
 4 a0003c0005t0002g0002
a0005c0022t0001g0004
a0009c0007t0002g0005
others(1): Show 
a0003c0005t0002g0002
a0005c0022t0001g0004
a0009c0007t0002g0005
a0017c0017t0001g0027
 4 HG01071.hp2
HG02145.hp2
HG02451.hp2
others(1): Show 
HG01071.hp2
HG02145.hp2
HG02451.hp2
NA19079.hp2
 intron_variant MODIFIER c.2552+417G>C
c.2552+417G>C
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049854
chr19:1049858 G
G
 A
A
 10 a0001c0001t0003g0016
a0001c0001t0003g0017
a0001c0001t0003g0018
others(7): Show 
a0001c0001t0003g0016
a0001c0001t0003g0017
a0001c0001t0003g0018
a0001c0001t0003g0019
a0003c0005t0002g0002
a0003c0005t0002g0003
a0005c0022t0001g0004
a0007c0021t0001g0001
a0009c0007t0002g0005
a0017c0017t0001g0027
 10 HG00673.hp2
HG01071.hp2
HG02071.hp2
others(7): Show 
HG00673.hp2
HG01071.hp2
HG02071.hp2
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02970.hp1
NA19066.hp2
NA19079.hp1
NA19079.hp2
 intron_variant MODIFIER c.2552+421G>A
c.2552+421G>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049858
chr19:1049868 C
C
 T
T
 5 a0001c0001t0003g0015
a0003c0005t0002g0003
a0007c0021t0001g0001
others(2): Show 
a0001c0001t0003g0015
a0003c0005t0002g0003
a0007c0021t0001g0001
a0008c0006t0002g0006
a0009c0007t0002g0005
 5 HG01071.hp1
HG02451.hp1
HG02970.hp1
others(2): Show 
HG01071.hp1
HG02451.hp1
HG02970.hp1
NA18983.hp2
NA19079.hp2
 intron_variant MODIFIER c.2552+431C>T
c.2552+431C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049868
chr19:1049873 G
G
 GGCCCCCC
others(2026): Show 
GGCCCCCCACCACTCCCTCCCCATGAACCCCCCACCACTCCCTCCCCGTG
AGCCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCAT
GAACCCCCCACCACTCCCTCCCCGTGAACCCCCCCACCACTCCCTCCCCG
TGAGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCG
TGAGGCCCCCCACCACTCCCTCCCCATGAACCCCCCACCACTCCCTCCCC
GTGAGCCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCC
CATGAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCC
CCGTGAGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCC
CCGTGAGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCC
CCGTGAGGCCCCCCACCACTCCCTCCCCATGAACCCCCCCACCACTCCCT
CCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCC
CTCCCCGTGAACCCCCCCCCACTCCCTCCCCGTGAGGCCCCCACCACTCC
CTCCCCGTGAGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTC
CCTCCCCATGAACCCCCCACCACTCCCTCCCCATGAACCCCCCCACCACT
CCCTCCCCATGAACCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCAC
TCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCACCAC
TCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCA
CTCCCTCCCCATGAACCCCCCACCACTCCCTCCCCGTGAACCCCCCACCA
CTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACC
ACTCCCTCCCCATGAACCCCCCACCACTCCCTCCCCATGAACCCCCCCAC
CACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAACCCCCCC
ACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGGCCCCC
CACCACTCCCTCCCCATGAACCCCCCACCACTCCCTCCCCGTGAACCCCC
CACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCATGAGCCCCC
CACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAACCCC
CCACCACTCCCTCCCCGTGAGGCCCCCACCACTCCCTCCCCGTGAACCCC
CCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAACCC
CCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGGCC
CCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAACC
CCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAAC
CCCCCACCACTCCCTCCCCATGAACCCCCCACCACTCCCTCCCCGTGAGG
CCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAA
CCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGA
GCCCCCCGACCGCTCCCTCCCCGTGAGTCCCCCACCACTCCCTCCCCGTG
AGCCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCAT
GAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCG
TGAACCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCG
TGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCGCTCCCTCCC
CGTGAGTCCCCCACCACTCCCTCCCTTTGAGCCCCCCCGGACCACTCCCT
CCCTGTGAGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCT
CCCCGTGAGCCCCCCCACCACTCCCTCCCTGTGA
 1 a0005c0022t0001g0004
a0005c0022t0001g0004
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.2552+436_2552+437i
others(2035): Show 
c.2552+436_2552+437insGCCCCCCACCACTCCCTCCCCATGAACC
CCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAAC
CCCCCACCACTCCCTCCCCATGAACCCCCCACCACTCCCTCCCCGTGAAC
CCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGTGAG
CCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCATGA
ACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTG
AACCCCCCACCACTCCCTCCCCATGAACCCCCCACCACTCCCTCCCCGTG
AGGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGT
GAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGT
GAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCA
TGAACCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCC
CGTGAGGCCCCCCACCACTCCCTCCCCGTGAACCCCCCCCCACTCCCTCC
CCGTGAGGCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCC
CCGTGAGGCCCCCCACCACTCCCTCCCCATGAACCCCCCACCACTCCCTC
CCCATGAACCCCCCCACCACTCCCTCCCCATGAACCCCCCCACCACTCCC
TCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCC
TCCCCGTGAGGCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCC
TCCCCGTGAGGCCCCCCACCACTCCCTCCCCATGAACCCCCCACCACTCC
CTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCC
CTCCCCGTGAGGCCCCCCACCACTCCCTCCCCATGAACCCCCCACCACTC
CCTCCCCATGAACCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCAC
TCCCTCCCCGTGAACCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCA
CTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCATGAACCCCCCACC
ACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCACC
ACTCCCTCCCCATGAGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCAC
CACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCAC
CACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCCA
CCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAACCCCCCA
CCACTCCCTCCCCGTGAGGCCCCCACCACTCCCTCCCCGTGAGGCCCCCC
ACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCC
CACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCATGAACCCCC
CACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAACCCC
CCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCC
CCCACCACTCCCTCCCCGTGAGCCCCCCGACCGCTCCCTCCCCGTGAGTC
CCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAAC
CCCCCACCACTCCCTCCCCATGAACCCCCCACCACTCCCTCCCCGTGAGG
CCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAA
CCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGA
GCCCCCCGACCGCTCCCTCCCCGTGAGTCCCCCACCACTCCCTCCCTTTG
AGCCCCCCCGGACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCT
GTGAGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCC
TGTGA
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049873
chr19:1049873 G
G
 GTCCCCCG
others(104): Show 
GTCCCCCGGACCACTCCCTCCCTGTGAGCCCCCCCCGGACCACTCCCTCC
CTGTGAGCCCCCCGGACCACTCCCTCCCTGTGAGCCTCCCCGGACCACTC
CCTACCTGTGAA
 1 a0003c0005t0002g0002
a0003c0005t0002g0002
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.2552+436_2552+437i
others(113): Show 
c.2552+436_2552+437insTCCCCCGGACCACTCCCTCCCTGTGAGC
CCCCCCCGGACCACTCCCTCCCTGTGAGCCCCCCGGACCACTCCCTCCCT
GTGAGCCTCCCCGGACCACTCCCTACCTGTGAA
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049873
chr19:1049874 C
C
 G
G
 5 a0001c0001t0003g0017
a0001c0001t0003g0018
a0005c0022t0001g0004
others(2): Show 
a0001c0001t0003g0017
a0001c0001t0003g0018
a0005c0022t0001g0004
a0014c0019t0002g0029
a0019c0012t0001g0026
 5 HG02071.hp1
HG02071.hp2
HG02451.hp2
others(2): Show 
HG02071.hp1
HG02071.hp2
HG02451.hp2
HG03688.hp2
NA19079.hp1
 intron_variant MODIFIER c.2552+437C>G
c.2552+437C>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049874
chr19:1049874 C
C
 T
T
 10 a0002c0003t0001g0009
a0002c0009t0001g0008
a0002c0011t0001g0012
others(7): Show 
a0002c0003t0001g0009
a0002c0009t0001g0008
a0002c0011t0001g0012
a0004c0004t0001g0021
a0004c0004t0001g0023
a0006c0020t0002g0020
a0008c0006t0002g0006
a0012c0016t0001g0024
a0016c0014t0002g0025
a0018c0015t0001g0022
 10 HG00673.hp1
HG02145.hp1
HG02970.hp2
others(7): Show 
HG00673.hp1
HG02145.hp1
HG02970.hp2
NA18970.hp1
NA18983.hp1
NA18983.hp2
NA19066.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2552+437C>T
c.2552+437C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049874
chr19:1049875 C
C
 CCCCCCGG
others(725): Show 
CCCCCCGGACCACTCCCTCCCTGTGAGTTCCCCCACCACTCCCTCCCTGT
GAACCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCC
GTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCC
CGTGAGCCCCCCCGGACCACTCCCTCCCTGTGAGTTCCCCCACCACTCCC
TCCCTGTGAACCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTC
CCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTTTGAGCCCCCCCACCAC
TCCCTCCCTGTGAGACCCCCCGGACCACTCCCTCCCTGTGAGTTCCCCCA
CCACTCCCTCCCTGTGAGTTCCCCCACCACTCCCTCCCTGTGAACCCCCC
ACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTCCCCGTGAGGCCCC
CCACCACTCCCTCCCCGTGAGCCCCCCGACCACTCCCTCCCCGTGAGGCC
CCCCACCACTCCCTCCCTGTGAGCCCCCCGACCACTCCCTCCCTTTGAGC
CCCCCCACCACTCCCTCCCTGTGAGCCCCCCCGGACCACTCCCTCCCTGT
GAGTTCCCCCACCACTCCCTCCCTGTGAGTTCCCCCACCACTCCCTCCCT
GTGAACCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTCCC
CGTGAGGCCCCCCACCACTCCCTCCCTGTGAGT
 1 a0001c0001t0003g0019
a0001c0001t0003g0019
 1 NA19066.hp2
NA19066.hp2
 intron_variant MODIFIER c.2552+443_2552+444i
others(734): Show 
c.2552+443_2552+444insGGACCACTCCCTCCCTGTGAGTTCCCCC
ACCACTCCCTCCCTGTGAACCCCCCCACCACTCCCTCCCCGTGAGGCCCC
CCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCC
CCCACCACTCCCTCCCCGTGAGCCCCCCCGGACCACTCCCTCCCTGTGAG
TTCCCCCACCACTCCCTCCCTGTGAACCCCCCCACCACTCCCTCCCCGTG
AGGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTT
TGAGCCCCCCCACCACTCCCTCCCTGTGAGACCCCCCGGACCACTCCCTC
CCTGTGAGTTCCCCCACCACTCCCTCCCTGTGAGTTCCCCCACCACTCCC
TCCCTGTGAACCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCC
CTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCACT
CCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCGACCA
CTCCCTCCCTTTGAGCCCCCCCACCACTCCCTCCCTGTGAGCCCCCCCGG
ACCACTCCCTCCCTGTGAGTTCCCCCACCACTCCCTCCCTGTGAGTTCCC
CCACCACTCCCTCCCTGTGAACCCCCCACCACTCCCTCCCTGTGAGCCCC
CCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAGTC
CCCC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049875
chr19:1049875 C
C
 T
T
 2 a0001c0001t0003g0015
a0007c0021t0001g0001
a0001c0001t0003g0015
a0007c0021t0001g0001
 2 HG01071.hp1
HG02451.hp1
HG01071.hp1
HG02451.hp1
 intron_variant MODIFIER c.2552+438C>T
c.2552+438C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049875
chr19:1049880 C
C
 CGACCACT
others(22): Show 
CGACCACTCCCTCCCTGTGAGCCTCCCCGG
 1 a0004c0004t0001g0021
a0004c0004t0001g0021
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.2552+443_2552+444i
others(31): Show 
c.2552+443_2552+444insGACCACTCCCTCCCTGTGAGCCTCCCCG
G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049880
chr19:1049880 C
C
 G
G
 11 a0001c0001t0003g0016
a0002c0003t0001g0007
a0002c0003t0001g0009
others(8): Show 
a0001c0001t0003g0016
a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
a0002c0011t0001g0012
a0003c0005t0002g0002
a0004c0004t0001g0023
a0006c0020t0002g0020
a0008c0006t0002g0006
a0012c0016t0001g0024
a0016c0014t0002g0025
 11 HG00673.hp1
HG00673.hp2
HG02145.hp2
others(8): Show 
HG00673.hp1
HG00673.hp2
HG02145.hp2
HG02970.hp2
NA18983.hp1
NA18983.hp2
NA19066.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2552+443C>G
c.2552+443C>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049880
chr19:1049894 T
T
 C
C
 7 a0001c0001t0003g0016
a0001c0001t0003g0018
a0002c0003t0001g0009
others(4): Show 
a0001c0001t0003g0016
a0001c0001t0003g0018
a0002c0003t0001g0009
a0002c0009t0001g0008
a0014c0019t0002g0029
a0015c0018t0001g0028
a0017c0017t0001g0027
 7 HG00673.hp2
HG01071.hp2
HG02071.hp1
others(4): Show 
HG00673.hp2
HG01071.hp2
HG02071.hp1
HG03688.hp1
NA19079.hp1
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.2552+457T>C
c.2552+457T>C
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049894
chr19:1049895 G
G
 T
T
 2 a0008c0006t0002g0006
a0016c0014t0002g0025
a0008c0006t0002g0006
a0016c0014t0002g0025
 2 NA18983.hp2
NA19066.hp1
NA18983.hp2
NA19066.hp1
 intron_variant MODIFIER c.2552+458G>T
c.2552+458G>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049895
chr19:1049898 A
A
 AGCCCCCC
others(1878): Show 
AGCCCCCCGACCACTCCCTCCCCGTGAGCCCCCCGGACCACTCCCTCCCC
GTGAGCCCCCCGGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTC
CCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCT
CCCCGTGAGCCCCCCGGACCACTCCCTCCCCGTGAGGCCCCCCACCACTC
CCTCCCCGTGAGCCCCCCGACCACTCCCTCCCCGTGAGCCCCCCGGACCA
CTCCCTCCCCGTGAGCCCCCCGGACCACTCCCTCCCCGTGAGGCCCCCCA
CCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCC
ACCACTCCCTCCCCGTGAGCCCCCCGGACCACTCCCTCCCCGTGAGGCCC
CCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCC
CCCCACCACTCCCTCCCCGTGAGCCCCCCGGACCACTCCCTCCCCGTGAG
CCCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCACTCCCTCCCCGTG
AGGCCCCCCACCCACTCCCTCCCCGTGAGCCCCCCGACCACTCCCTCCCC
GTGAGCCCCCCGGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTC
CCCGTGAGCCCCCCGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCC
TCCCTGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCC
TCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACACCACT
CCCTCCCCGTGAGCCCCCCGACCACTCCCTCCCCGTGAGGCCCCCCACCA
CTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCAC
CACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCA
CCACTCCCTCCCCGTGAGCCCCCCGGACCACTCCCTCCCCGTGAGGCCCC
CCACCACTCCCTCCCCGTGAGCCCCCCGACCACTCCCTCCCCGTGAGCCC
CCCGGACCACTCCCTCCCCGTGAGCCCCCCGGACCACTCCCTCCCCGTGA
GGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTG
AGCCCCCCCACCACTCCCCTCCCCGTGAGCCCCCCGGACCACTCCCTCCC
CGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCACTCCCTC
CCCGTGAGCCCCCCGGACCACTCCCTCCCCGTGAGCCCCCCGGACCACTC
CCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACT
CCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCGGACC
ACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAACCCCCCAC
CACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCGG
ACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCC
CGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCC
CCCGACCACTCCCTCCCCGTGAGCCCCCCGGACCACTCCCTCCCCGTGAG
GCCCCCCACCACTCCCTCCCTGTGAGTCCCCCACCACTCCCTCCCCGTGA
GGCCCCCCGGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCT
GTGAGTCCCCCACCACTCCCTCCCCGTGAGGCCCCCCGGACCACTCCCTC
CCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCCACCACTCC
CTCCCTGTGAACCCCCCACCACTCCCTCCCCGTGAG
 1 a0001c0001t0003g0018
a0001c0001t0003g0018
 1 NA19079.hp1
NA19079.hp1
 intron_variant MODIFIER c.2552+468_2552+469i
others(1887): Show 
c.2552+468_2552+469insGACCACTCCCTCCCCGTGAGCCCCCCGG
ACCACTCCCTCCCCGTGAGCCCCCCGGACCACTCCCTCCCCGTGAGGCCC
CCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCC
CCCCACCACTCCCTCCCCGTGAGCCCCCCGGACCACTCCCTCCCCGTGAG
GCCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCACTCCCTCCCCGTG
AGCCCCCCGGACCACTCCCTCCCCGTGAGCCCCCCGGACCACTCCCTCCC
CGTGAGGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCC
CCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCGGACCACTCCC
TCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCC
CTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCGGACCAC
TCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACC
ACTCCCTCCCCGTGAGGCCCCCCACCCACTCCCTCCCCGTGAGCCCCCCG
ACCACTCCCTCCCCGTGAGCCCCCCGGACCACTCCCTCCCCGTGAGGCCC
CCCACCACTCCCTCCCCGTGAGCCCCCCGACCACTCCCTCCCCGTGAGGC
CCCCCACCACTCCCTCCCTGTGAACCCCCCACCACTCCCTCCCCGTGAGC
CCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGC
CCCCCCACACCACTCCCTCCCCGTGAGCCCCCCGACCACTCCCTCCCCGT
GAGGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCC
GTGAGGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCC
CGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCGGACCACTCCCT
CCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCACTCC
CTCCCCGTGAGCCCCCCGGACCACTCCCTCCCCGTGAGCCCCCCGGACCA
CTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACC
ACTCCCTCCCCGTGAGCCCCCCCACCACTCCCCTCCCCGTGAGCCCCCCG
GACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCCC
CCGACCACTCCCTCCCCGTGAGCCCCCCGGACCACTCCCTCCCCGTGAGC
CCCCCGGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTG
AACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGT
GAGCCCCCCGGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCC
CGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCC
CGTGAGCCCCCCGGACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCT
CCCCGTGAGCCCCCCGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCC
CTCCCCGTGAGCCCCCCGACCACTCCCTCCCCGTGAGCCCCCCGGACCAC
TCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAGTCCCCCACCA
CTCCCTCCCCGTGAGGCCCCCCGGACCACTCCCTCCCCGTGAGGCCCCCC
ACCACTCCCTCCCTGTGAGTCCCCCACCACTCCCTCCCCGTGAGGCCCCC
CGGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGGC
CCCCCCACCACTCCCTCCCTGTGAACCCCCCACCACTCCCTCCCCGTGAG
GCCCCCC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049898
chr19:1049899 G
G
 A
A
 1 a0009c0007t0002g0005
a0009c0007t0002g0005
 1 NA19079.hp2
NA19079.hp2
 intron_variant MODIFIER c.2552+462G>A
c.2552+462G>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049899
chr19:1049900 C
C
 CCCCCCCA
others(408): Show 
CCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCGGACCACTCCCTCCCTG
TGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCGCTCCCTCCCC
GTGAGTCCCCCGACCACTCCCTCCCTGTGAGCCCCCCGACCGCTCCCTCC
CCGTGAGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCGACCGCTCCCTC
CCTGTGAGTCCCCCGACCACTCCCTCCCTTTGAGCCCCCCCGGACCACTC
CCTCCCTGTGAGCCCCCCACCACTCCCTCCCTGTGAGTCCCCCACCACTC
CCTCCCTGTGAGTCCCCCGACCACTCCCTCCCTTTGAGCCCCCCCGGACC
ACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCTGTGAGTCCCCCACC
ACTCCCTCCCTGTGAG
 1 a0009c0007t0002g0005
a0009c0007t0002g0005
 1 NA19079.hp2
NA19079.hp2
 intron_variant MODIFIER c.2552+482_2552+483i
others(417): Show 
c.2552+482_2552+483insCGTGAGCCCCCCCGGACCACTCCCTCCC
TGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCGCTCCCTCC
CCGTGAGTCCCCCGACCACTCCCTCCCTGTGAGCCCCCCGACCGCTCCCT
CCCCGTGAGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCGACCGCTCCC
TCCCTGTGAGTCCCCCGACCACTCCCTCCCTTTGAGCCCCCCCGGACCAC
TCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCTGTGAGTCCCCCACCAC
TCCCTCCCTGTGAGTCCCCCGACCACTCCCTCCCTTTGAGCCCCCCCGGA
CCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCTGTGAGTCCCCCA
CCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049900
chr19:1049900 C
C
 CCCCCCCA
others(144): Show 
CCCCCCCACCACTCCCTCCCTGTGAGTTCCCCACCACTCCCTCCCCATGA
ACCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGA
GCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCACCACTCCCTCCCCATG
AA
 1 a0010c0010t0001g0013
a0010c0010t0001g0013
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.2552+494_2552+495i
others(153): Show 
c.2552+494_2552+495insACCACTCCCTCCCCATGAACCCCCCACC
ACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCAC
CACTCCCTCCCCGTGAGGCCCCCACCACTCCCTCCCCATGAACCCCCCAC
CACTCCCTCCCTGTGAGTTCCCC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049900
chr19:1049900 C
C
 G
G
 1 a0001c0001t0003g0016
a0001c0001t0003g0016
 1 HG00673.hp2
HG00673.hp2
 intron_variant MODIFIER c.2552+463C>G
c.2552+463C>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049900
chr19:1049900 C
C
 T
T
 4 a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
others(1): Show 
a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
a0007c0021t0001g0001
 4 HG02451.hp1
NA20805.hp1
NA20805.hp2
others(1): Show 
HG02451.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.2552+463C>T
c.2552+463C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049900
chr19:1049901 C
C
 CCCCCACC
others(41): Show 
CCCCCACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCTGTGAGT
 1 a0007c0021t0001g0001
a0007c0021t0001g0001
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.2552+468_2552+469i
others(50): Show 
c.2552+468_2552+469insACCACTCCCTCCCTGTGAGCCCCCCACC
ACTCCCTCCTGTGAGTCCCC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049901
chr19:1049901 C
C
 CCCCGACC
others(683): Show 
CCCCGACCGCTCCCTCCCCGTGAGTCCCCCGACCACTCCCTCCCTGTGAG
CCTCCCCACCACTCCCTCCCCGTGAGTCCCCCGACCACTCCCTCCCTGTG
AGCCTCCCCACCACTCCCTCCCTGTGAGTTCCCCCACCACTCCCTCCCCG
TGAGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCT
GTGAGCCCCCCGACCACTCCCTCCCTGTGAGCCCCCCCGGACCACTCCCT
CCCTGTGAGCCCCCCCGACCACTCCCTCCCTGTGAGCCCCCCACCACTCC
CTCCCTGTGAGTCCCCCACCACTCCCTCCCTGTGAGTTCCCCCACCACTC
CCTCCCTGTGAGTCCCCCACCACTCCCTCCCTGTGAGCCGCCCACCACTC
CCTCCCTGTGAGTCCCCCACCACTCCCTCCCTGTGAGTTCCCCCACCACT
CCCTCCCTGTGAGTTCCCCCACCACTCCCTCCCTGTGAGTCCCCCACCAC
TCCCTCCCTGTGAGTTCCCCACCACTCCCTCCCTGTGAGTCCCCCACCAC
TCCCTCCCTGTGAGCCGCCCACCACTCCCTCCCTGTGAGTCCCCCACCAC
TCCCTCCCTGTGAGTTCCCCCACCACTCCCTCCCTGTGAGTCCCCCACCA
CTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCTGTGAGT
 1 a0002c0011t0001g0012
a0002c0011t0001g0012
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2552+467_2552+468i
others(692): Show 
c.2552+467_2552+468insGACCGCTCCCTCCCCGTGAGTCCCCCGA
CCACTCCCTCCCTGTGAGCCTCCCCACCACTCCCTCCCCGTGAGTCCCCC
GACCACTCCCTCCCTGTGAGCCTCCCCACCACTCCCTCCCTGTGAGTTCC
CCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGTGAGGCC
CCCCACCACTCCCTCCCTGTGAGCCCCCCGACCACTCCCTCCCTGTGAGC
CCCCCCGGACCACTCCCTCCCTGTGAGCCCCCCCGACCACTCCCTCCCTG
TGAGCCCCCCACCACTCCCTCCCTGTGAGTCCCCCACCACTCCCTCCCTG
TGAGTTCCCCCACCACTCCCTCCCTGTGAGTCCCCCACCACTCCCTCCCT
GTGAGCCGCCCACCACTCCCTCCCTGTGAGTCCCCCACCACTCCCTCCCT
GTGAGTTCCCCCACCACTCCCTCCCTGTGAGTTCCCCCACCACTCCCTCC
CTGTGAGTCCCCCACCACTCCCTCCCTGTGAGTTCCCCACCACTCCCTCC
CTGTGAGTCCCCCACCACTCCCTCCCTGTGAGCCGCCCACCACTCCCTCC
CTGTGAGTCCCCCACCACTCCCTCCCTGTGAGTTCCCCCACCACTCCCTC
CCTGTGAGTCCCCCACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTC
CCTGTGAGTCCC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049901
chr19:1049901 C
C
 T
T
 2 a0002c0003t0001g0007
a0003c0005t0002g0003
a0002c0003t0001g0007
a0003c0005t0002g0003
 2 HG02970.hp1
NA20905.hp1
HG02970.hp1
NA20905.hp1
 intron_variant MODIFIER c.2552+464C>T
c.2552+464C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049901
chr19:1049905 C
C
 CGACCGCT
others(2410): Show 
CGACCGCTCCCTCCCCGTGAGTCCCCCGACCACTCCCCTCCCTGTGAGCC
CCCCCGGACCACTCCCTCCCTGTGAGTTCCCCCACCCACTCCCTCCCTGT
GAGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCGGACCACTCCCTCCC
TGTGAGTTTCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCC
CCCGTGAGCCCCCCCACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCT
CCCCGTGAGGCCCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTC
CCTCCCTGTGAGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACT
CCCTCCCTGTGAGCCCCCCACCACTCCCCTCCCCGTGAGCCCCCCCACCA
CTCCCTCCCTGTGAGCCCCCCACCCACTCCCTCCCCGTGAGGCCCCCCCA
CCACTCCCTCCCTCGTGAGCCCCCCACCACTCCCTCCCCGTGAGGCCCCC
CACCACTCCTCCCGTGAGCCCCCCCCCCACCACTCCCTCCCTGTGAGCCC
CCCACCACTCCCTCCCCGTGAGGCCCCCCCACCACTCCCTCCCTGTGAGC
CCCCCCACCACTCCCCTCCCCGTGAGCCCCCCCGGACCACTCCCTCCCTG
TGAACCCCCCACCACTCCCTCCCTGTGAGTTCCCCCACCACTACCCTCCC
CGTGAGGGCCCCCACCACTCCCTCCCCGTGAGCCCCCCCGGACCACTCCC
TCCCTGTGAACCCCCCACCCACTCCCTCCCTGTGAGTTCCCCCCACCACT
CCCTCCCTGTGAGCCCCCCACCACTCCCTCCTGTGAGCCCCCCACCACTC
CCTCCCTGTGAGCCCCCCACCACCTCCCTCCCCGTGAGGCCCCCCACCAC
TCCCCTCCCTGTGAGTTCCCCCACCACTCCCTCCCTGTGAGCCCCCCACC
ACTCCCTCCCTGTGAGCCGCCCAAACCACTCCCTCCCTGTGAGCCCCCCC
GGACCACTCCCTCCCTGTGAACCCCCCCACCACTCTCCCTCCCTGTGAGT
TCCCCCACCACTCCCTCCCCCGTGAGTCCCCCGACCACTCCCTCCCTGTG
AGTCCCCCCGGACCACTCCCTCCCTGTGAGTCCCCCCACCACTCCCTCCC
CGTGAGGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCCTC
CCCGTGAGCCCCCCCCACCACCTCCCCTCCCCCGTGAGGCCCCCCCACCA
CTCCCTCCCTGTGAGTCCCCCCACCACTCCCTCCCTGTGAGCCCCCCACC
ACTCCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCAC
CACTCCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAGTCCCCC
CCACCACTCCCTCCCTGTGAGGCCCCCCACCACTCTCCCTCCCTGTGAGC
CCCCCACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCCGTGAGG
CCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTG
AGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTCCCCGT
GAGGCCCCCCCACCACTCCCCTCCCCGTGAGGCCCCCCCACCACTCCCTC
CCTGTGAGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCT
CCCCGTGAGGCCCCCCACCCACTCCCTCCCCGTGAGTCCCCCGACCACTC
CCTCCCTGTGAGTCCCCCCGGACCACTCCCTCCCCGTGAGGCCCCCCACC
ACTCCCTCCCTGTGAGCCCCCCACCACTCCCCTCCCTGTGAGCCCCCCCA
CCACTCCCTCCCTGTGAGTCCCCCCCGGACCACTCCCTCCCTGTGAGTCC
CCCCACCACTCCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAG
CCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTCCCTGTGA
GCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCCAACCACTCCCTCCCT
GTGAGCCCCCCCACCACTCCCTCCCTGTGAGCCCCCCCCACCACTCCCTC
CCTGTGAGTCCCCCCCGGACCAGTCCCCCCGGACCACTCCCTCCCTGTGA
GTCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGT
GAGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCTGT
GAGTCCCCCCGGACCACTCCCTCCCTGTGAGTCCCCCCACCACTCCCTCC
CCGTGAGGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTC
CCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCGACCACTCCC
TCCCTGTGAGTCCCCCCG
 1 a0004c0004t0001g0023
a0004c0004t0001g0023
 1 HG00673.hp1
HG00673.hp1
 intron_variant MODIFIER c.2552+468_2552+469i
others(2419): Show 
c.2552+468_2552+469insGACCGCTCCCTCCCCGTGAGTCCCCCGA
CCACTCCCCTCCCTGTGAGCCCCCCCGGACCACTCCCTCCCTGTGAGTTC
CCCCACCCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCCGTGAGG
CCCCCCGGACCACTCCCTCCCTGTGAGTTTCCCCACCACTCCCTCCCCGT
GAGCCCCCCACCACTCCCTCCCCCGTGAGCCCCCCCACCACTCCCTCCCT
GTGAGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCCACCACTCCCTCC
CTGTGAGCCCCCCCACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTC
CCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCC
TCCCCGTGAGCCCCCCCACCACTCCCTCCCTGTGAGCCCCCCACCCACTC
CCTCCCCGTGAGGCCCCCCCACCACTCCCTCCCTCGTGAGCCCCCCACCA
CTCCCTCCCCGTGAGGCCCCCCACCACTCCTCCCGTGAGCCCCCCCCCCA
CCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCC
CACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCCTCCCCGTGAGCCC
CCCCGGACCACTCCCTCCCTGTGAACCCCCCACCACTCCCTCCCTGTGAG
TTCCCCCACCACTACCCTCCCCGTGAGGGCCCCCACCACTCCCTCCCCGT
GAGCCCCCCCGGACCACTCCCTCCCTGTGAACCCCCCACCCACTCCCTCC
CTGTGAGTTCCCCCCACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCT
CCTGTGAGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCACCACCTCCCT
CCCCGTGAGGCCCCCCACCACTCCCCTCCCTGTGAGTTCCCCCACCACTC
CCTCCCTGTGAGCCCCCCACCACTCCCTCCCTGTGAGCCGCCCAAACCAC
TCCCTCCCTGTGAGCCCCCCCGGACCACTCCCTCCCTGTGAACCCCCCCA
CCACTCTCCCTCCCTGTGAGTTCCCCCACCACTCCCTCCCCCGTGAGTCC
CCCGACCACTCCCTCCCTGTGAGTCCCCCCGGACCACTCCCTCCCTGTGA
GTCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGT
GAGCCCCCCACCACTCCCCTCCCCGTGAGCCCCCCCCACCACCTCCCCTC
CCCCGTGAGGCCCCCCCACCACTCCCTCCCTGTGAGTCCCCCCACCACTC
CCTCCCTGTGAGCCCCCCACCACTCCCCTCCCTGTGAGCCCCCCACCACT
CCCTCCCTGTGAGCCCCCCACCACTCCCCTCCCCGTGAGGCCCCCCACCA
CTCCCTCCCTGTGAGTCCCCCCCACCACTCCCTCCCTGTGAGGCCCCCCA
CCACTCTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCTGTGAGCCCCC
CACCACTCCCTCCCCGTGAGGCCCCCCCACCACTCCCTCCCCGTGAGGCC
CCCCACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCTGTGAGCC
CCCCCACCACTCCCTCCCCGTGAGGCCCCCCCACCACTCCCCTCCCCGTG
AGGCCCCCCCACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCTG
TGAGCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCCACTCCCTCC
CCGTGAGTCCCCCGACCACTCCCTCCCTGTGAGTCCCCCCGGACCACTCC
CTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCACCACTC
CCCTCCCTGTGAGCCCCCCCACCACTCCCTCCCTGTGAGTCCCCCCCGGA
CCACTCCCTCCCTGTGAGTCCCCCCACCACTCCCCTCCCCGTGAGGCCCC
CCACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCTGTGAGCCCC
CCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTCCCCGTGAGGC
CCCCCCAACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTCCCTGTG
AGCCCCCCCCACCACTCCCTCCCTGTGAGTCCCCCCCGGACCAGTCCCCC
CGGACCACTCCCTCCCTGTGAGTCCCCCCACCACTCCCTCCCCGTGAGGC
CCCCCACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCTGTGAGC
CCCCCACCACTCCCTCCCTGTGAGTCCCCCCGGACCACTCCCTCCCTGTG
AGTCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTG
TGAGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCT
GTGAGCCCCCCGACCACTCCCTCCCTGTGAGTCCCCCCG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049905
chr19:1049906 C
C
 CACCACTC
others(205): Show 
CACCACTCCCTCCCTGTGAGCCCCCCCGGACCACTCCCTCCCTGTGAGCC
CCCCGACCACTCCCTCCCTGTGAGCCCCCCCGGACCACTCCCTCCCTGTG
AGTTCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGT
GAGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCACTCCCTCCCTG
TGAGCCCCCCCGG
 1 a0018c0015t0001g0022
a0018c0015t0001g0022
 1 NA18970.hp1
NA18970.hp1
 intron_variant MODIFIER c.2552+488_2552+489i
others(214): Show 
c.2552+488_2552+489insCCCCCCCGGACCACTCCCTCCCTGTGAG
CCCCCCGACCACTCCCTCCCTGTGAGCCCCCCCGGACCACTCCCTCCCTG
TGAGTTCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCC
GTGAGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCACTCCCTCCC
TGTGAGCCCCCCCGGACCACTCCCTCCCTGTGAG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049906
chr19:1049906 C
C
 CGG
CGG
 4 a0005c0022t0001g0004
a0012c0016t0001g0024
a0016c0014t0002g0025
others(1): Show 
a0005c0022t0001g0004
a0012c0016t0001g0024
a0016c0014t0002g0025
a0019c0012t0001g0026
 4 HG02451.hp2
HG03688.hp2
NA18983.hp1
others(1): Show 
HG02451.hp2
HG03688.hp2
NA18983.hp1
NA19066.hp1
 intron_variant MODIFIER c.2552+469_2552+470i
others(4): Show 
c.2552+469_2552+470insGG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049906
chr19:1049906 C
C
 CGGACCAC
others(99): Show 
CGGACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCTGTGAGTCC
CCCACCACTCCCTCCCTGTGAGTCCCCCGACCGCTCCCTCCCTTTGAGCC
CCCCCGG
 1 a0008c0006t0002g0006
a0008c0006t0002g0006
 1 NA18983.hp2
NA18983.hp2
 intron_variant MODIFIER c.2552+469_2552+470i
others(108): Show 
c.2552+469_2552+470insGGACCACTCCCTCCCTGTGAGCCCCCCA
CCACTCCCTCCCTGTGAGTCCCCCACCACTCCCTCCCTGTGAGTCCCCCG
ACCGCTCCCTCCCTTTGAGCCCCCCCGG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049906
chr19:1049906 C
C
 G
G
 5 a0002c0003t0001g0009
a0002c0009t0001g0008
a0004c0004t0001g0021
others(2): Show 
a0002c0003t0001g0009
a0002c0009t0001g0008
a0004c0004t0001g0021
a0004c0004t0001g0023
a0017c0017t0001g0027
 5 HG00673.hp1
HG01071.hp2
HG02145.hp1
others(2): Show 
HG00673.hp1
HG01071.hp2
HG02145.hp1
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.2552+469C>G
c.2552+469C>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049906
chr19:1049910 A
A
 ACTCCCTC
others(527): Show 
ACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCATGAACCCCCCACC
ACTCCCTCCCTGTGAGCCCCCCACCACTTCCTCCCTGTGAGCCCCCCCAC
CACTCCCTCCCTGTGAGCCCCCACCACTCCCTCCCTGTGAGCCCCCCACC
ACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTCCCTGTGAGCCCCCCCA
CCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTCCCTGTGAGCCCCCC
ACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCCGTGAGCCCCCC
CACCACTCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCC
CCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTCCCTGTGAGGCC
CCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTCCCTGTGAGCC
CCCCACCACTCCCTCCCTGTGAGCCCCCCGACCACTCCCTACCTGTGAAC
CCCCCGACCGCTCCCTCCCTGTGAGCCCCCGACCG
 1 a0006c0020t0002g0020
a0006c0020t0002g0020
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.2552+482_2552+483i
others(536): Show 
c.2552+482_2552+483insCGTGAACCCCCCACCACTCCCTCCCCAT
GAACCCCCCACCACTCCCTCCCTGTGAGCCCCCCACCACTTCCTCCCTGT
GAGCCCCCCCACCACTCCCTCCCTGTGAGCCCCCACCACTCCCTCCCTGT
GAGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTCCCTG
TGAGCCCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTCCC
TGTGAGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCC
CGTGAGCCCCCCCACCACTCCTCCCCGTGAGCCCCCCCACCACTCCCTCC
CCGTGAGCCCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCT
CCCTGTGAGGCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCC
TCCCTGTGAGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCGACCACTCC
CTACCTGTGAACCCCCCGACCGCTCCCTCCCTGTGAGCCCCCGACCGCTC
CCTCCC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049910
chr19:1049910 A
A
 G
G
 2 a0002c0003t0001g0007
a0017c0017t0001g0027
a0002c0003t0001g0007
a0017c0017t0001g0027
 2 HG01071.hp2
NA20905.hp1
HG01071.hp2
NA20905.hp1
 intron_variant MODIFIER c.2552+473A>G
c.2552+473A>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049910
chr19:1049920 T
T
 C
C
 9 a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0017
others(6): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0017
a0001c0001t0003g0018
a0001c0001t0003g0019
a0013c0013t0002g0030
a0014c0019t0002g0029
a0015c0018t0001g0028
a0019c0012t0001g0026
 9 HG00673.hp2
HG01071.hp1
HG02071.hp1
others(6): Show 
HG00673.hp2
HG01071.hp1
HG02071.hp1
HG02071.hp2
HG03688.hp1
HG03688.hp2
NA19066.hp2
NA19079.hp1
NA20905.hp2
 intron_variant MODIFIER c.2552+483T>C
c.2552+483T>C
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049920
chr19:1049925 G
G
 GCCCCCGA
others(71): Show 
GCCCCCGACCGCTCCCTCCCTTTGAGCCCCCCCGGACCACTCCCTCCCTG
TGAGTTCCCCCACCGCTCCCTCCCTGTGA
 1 a0002c0009t0001g0008
a0002c0009t0001g0008
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.2552+488_2552+489i
others(80): Show 
c.2552+488_2552+489insCCCCCGACCGCTCCCTCCCTTTGAGCCC
CCCCGGACCACTCCCTCCCTGTGAGTTCCCCCACCGCTCCCTCCCTGTGA
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049925
chr19:1049925 G
G
 GCCCCCGA
others(69): Show 
GCCCCCGACCGCTCCCTCCTTTGAGCCCCCCCGGACCACTCCCTCCCTGT
GAGTTCCCCCACCGCTCCCTCCTGTGA
 1 a0002c0003t0001g0009
a0002c0003t0001g0009
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.2552+488_2552+489i
others(78): Show 
c.2552+488_2552+489insCCCCCGACCGCTCCCTCCTTTGAGCCCC
CCCGGACCACTCCCTCCCTGTGAGTTCCCCCACCGCTCCCTCCTGTGA
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049925
chr19:1049925 GT
GT
 G
G
 7 a0002c0003t0001g0007
a0002c0011t0001g0012
a0003c0005t0002g0002
others(4): Show 
a0002c0003t0001g0007
a0002c0011t0001g0012
a0003c0005t0002g0002
a0003c0005t0002g0003
a0007c0021t0001g0001
a0008c0006t0002g0006
a0016c0014t0002g0025
 7 HG02145.hp2
HG02451.hp1
HG02970.hp1
others(4): Show 
HG02145.hp2
HG02451.hp1
HG02970.hp1
NA18983.hp2
NA19066.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2552+490delT
c.2552+490delT
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049925
chr19:1049926 T
T
 C
C
 5 a0001c0001t0003g0015
a0001c0001t0003g0018
a0004c0004t0001g0021
others(2): Show 
a0001c0001t0003g0015
a0001c0001t0003g0018
a0004c0004t0001g0021
a0013c0013t0002g0030
a0014c0019t0002g0029
 5 HG01071.hp1
HG02071.hp1
HG02145.hp1
others(2): Show 
HG01071.hp1
HG02071.hp1
HG02145.hp1
NA19079.hp1
NA20905.hp2
 intron_variant MODIFIER c.2552+489T>C
c.2552+489T>C
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049926
chr19:1049926 T
T
 G
G
 7 a0001c0001t0003g0016
a0001c0001t0003g0017
a0001c0001t0003g0019
others(4): Show 
a0001c0001t0003g0016
a0001c0001t0003g0017
a0001c0001t0003g0019
a0002c0003t0001g0009
a0002c0009t0001g0008
a0015c0018t0001g0028
a0019c0012t0001g0026
 7 HG00673.hp2
HG02071.hp2
HG03688.hp1
others(4): Show 
HG00673.hp2
HG02071.hp2
HG03688.hp1
HG03688.hp2
NA19066.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.2552+489T>G
c.2552+489T>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049926
chr19:1049926 T
T
 TTCCCCAC
others(193): Show 
TTCCCCACCACTCCCTCCCCATGAACCCCCCACCACTCCCTCCCCGTGAA
CCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGA
GGCCCCCACCACTCCCTCCCCATGAACCCCCCACCACTCCCTCCCTGTGA
GCCCCCCACCACTCCCTCCCTGTGAGTCCCCCACCACTCCCTCCCTGTGA
G
 1 a0011c0008t0002g0014
a0011c0008t0002g0014
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.2552+494_2552+495i
others(202): Show 
c.2552+494_2552+495insACCACTCCCTCCCCATGAACCCCCCACC
ACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCAC
CACTCCCTCCCCGTGAGGCCCCCACCACTCCCTCCCCATGAACCCCCCAC
CACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCTGTGAGTCCCCCAC
CACTCCCTCCCTGTGAGTCCCC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049926
chr19:1049927 T
T
 C
C
 13 a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0017
others(10): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0017
a0001c0001t0003g0018
a0001c0001t0003g0019
a0004c0004t0001g0021
a0008c0006t0002g0006
a0013c0013t0002g0030
a0014c0019t0002g0029
a0015c0018t0001g0028
a0016c0014t0002g0025
a0017c0017t0001g0027
a0019c0012t0001g0026
 13 HG00673.hp2
HG01071.hp1
HG01071.hp2
others(10): Show 
HG00673.hp2
HG01071.hp1
HG01071.hp2
HG02071.hp1
HG02071.hp2
HG02145.hp1
HG03688.hp1
HG03688.hp2
NA18983.hp2
NA19066.hp1
NA19066.hp2
NA19079.hp1
NA20905.hp2
 intron_variant MODIFIER c.2552+490T>C
c.2552+490T>C
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049927
chr19:1049931 C
C
 G
G
 1 a0017c0017t0001g0027
a0017c0017t0001g0027
 1 HG01071.hp2
HG01071.hp2
 intron_variant MODIFIER c.2552+494C>G
c.2552+494C>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049931
chr19:1049932 C
C
 CACCACTC
others(2946): Show 
CACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGGCCC
CCACCACTCCCTCCCTGTGAACCCCCCACCACTCCCTCCCTGTGAGGCCC
CCCCACCACTCCCTCCCCGTGAGGCCCCCCCACCACTCCCTCCCCGTGAG
GCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGA
GCCCCCCGACCGCTCCCTCCCCGTGAGGCCCCCCCACCACTCCCTCCCCG
TGAGCCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCC
CCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCT
CCCCGTGAACCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCT
CCCCGTGAGCCCCCCCACCGCTCCCTCCCCGTGAGCCCCCCGACCGCTCC
CTCCCCGTGAGGCCCCCCACCGCTCCCTCCCCGTGAGCCCCCCACCGCTC
CCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCGCT
CCCTCCCCGTGAGCCCCCCGACCGCTCCCTCCCCGTGAGCCCCCCCACCG
CTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCAC
CACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCC
ACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAACCCCC
CACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCC
CCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCC
CCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGC
CCCCCCCACCGCTCCCTCCCCGTGAGCCCCCCGACCGCTCCCTCCCCGTG
AGGCCCCCCACCGCTCCCTCCCCGTGAGGCCCCCCCACCGCTCCCTCCCC
GTGAGCCCCCCCACCGCTCCCTCCCCGTGAGCCCCCCCACCGCTCCCTCC
CCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCT
CCCCGTGAGCCCCCCCACCGCTCCCTCCCCGTGAGCCCCCCGACCGCTCC
CTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACT
CCCTCCCCGTGAGGCCCCCACCACTCCCTCCCTGTGAGCCCCCCGACCGC
TCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACC
ACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAACCCCCCAC
CACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCC
ACCACTCCCTCCCCGTGAGGCCCCCGACCGCTCCCTCCCCGTGAGGCCCC
CCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGTGAGCCCC
CCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGTGAGCCCC
CCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCC
CCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGC
CCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGA
GCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGT
GAGGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCC
GTGAACCCCCCACCACTCCCTCCCTGTGAGCCCCCCCGGACCACTCCCTC
CCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAACCCCCCACCACTCCCT
CCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCC
CTCCCTGTGAGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCGCTC
CCTCCCCGTGAGGCCCCCCACCGCTCCCTCCCCGTGAGCCCCCCACCACT
CCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGTGAGCCCCCACCACTC
CCTCCCCGTGAGCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCGCTCC
CTCCCCGTGAGCCCCCCACCGCTCCCTCCCCGTGAGCCCCCCCACCACTC
CCTCCCCGTGAGGCCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCAC
TCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACC
GCTCCCTCCCCGTGAGTCCCCCGACCACTCCCTCCCCGTGAGCCCCCCGA
CCGCTCCCTCCCTGTGAGCCTCCCCGGACCACTCCCTCCCCGTGAGGCCC
CCACCACTCCCTCCCTGTGAGCCGCCCAAACCACTCCCCTCCTGTGAGCC
CCCCGACCACTCCCTCCCCGTGAGGCCCCCACCACCTCCCTCCCCGTGAG
CCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTG
AGCCCCCCGACCGCTCCCCTCCCCGTGAGTCCCCCGACCACTCCCTCCCC
GTGAGCCCCCCGACCGCTCCCTCCCTGTGAGCCTCCCCGGACCACTCCCC
TCCCCGTGAGGCCCCCACCACTCCCTCCCTGTGAGCCGCCCAAACCACTC
CCTCCCTGTGAGCCCCCCGACCACTCCCTCCCCGTGAGGCCCCCACCACT
CCCTCCCTGTGAGCCGCCCAAACCACTCCCTCCCCGTGAGCCCCCCCACC
ACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAACCCCCCAC
CACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCG
ACCACTCCCTCCCCGTGAGCCCCCCGACCGCTCCCTCCCTGTGAGCCTCC
CCGG
 1 a0015c0018t0001g0028
a0015c0018t0001g0028
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.2552+508_2552+509i
others(2955): Show 
c.2552+508_2552+509insCGTGAGCCCCCCCACCACTCCCTCCCCG
TGAGGCCCCCACCACTCCCTCCCTGTGAACCCCCCACCACTCCCTCCCTG
TGAGGCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCCACCACTCCCTC
CCCGTGAGGCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCT
CCCCGTGAGCCCCCCGACCGCTCCCTCCCCGTGAGGCCCCCCCACCACTC
CCTCCCCGTGAGCCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCA
CTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCAC
CACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAACCCCCCAC
CACTCCCTCCCCGTGAGCCCCCCCACCGCTCCCTCCCCGTGAGCCCCCCG
ACCGCTCCCTCCCCGTGAGGCCCCCCACCGCTCCCTCCCCGTGAGCCCCC
CACCGCTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCC
CCACCGCTCCCTCCCCGTGAGCCCCCCGACCGCTCCCTCCCCGTGAGCCC
CCCCACCGCTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGC
CCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGA
GCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGT
GAACCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGT
GAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCC
GTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCC
CCGTGAGCCCCCCCCACCGCTCCCTCCCCGTGAGCCCCCCGACCGCTCCC
TCCCCGTGAGGCCCCCCACCGCTCCCTCCCCGTGAGGCCCCCCCACCGCT
CCCTCCCCGTGAGCCCCCCCACCGCTCCCTCCCCGTGAGCCCCCCCACCG
CTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCAC
CACTCCCTCCCCGTGAGCCCCCCCACCGCTCCCTCCCCGTGAGCCCCCCG
ACCGCTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCCCC
CCACCACTCCCTCCCCGTGAGGCCCCCACCACTCCCTCCCTGTGAGCCCC
CCGACCGCTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCC
CCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAA
CCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGA
GGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCGACCGCTCCCTCCCCGT
GAGGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCG
TGAGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCG
TGAGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCC
GTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCC
CCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCT
CCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCC
CTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACT
CCCTCCCCGTGAACCCCCCACCACTCCCTCCCTGTGAGCCCCCCCGGACC
ACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAACCCCCCAC
CACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCC
ACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCCGTGAGCCCCCC
GACCGCTCCCTCCCCGTGAGGCCCCCCACCGCTCCCTCCCCGTGAGCCCC
CCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGTGAGCCCC
CACCACTCCCTCCCCGTGAGCCCCCACCACTCCCTCCCCGTGAGCCCCCC
ACCGCTCCCTCCCCGTGAGCCCCCCACCGCTCCCTCCCCGTGAGCCCCCC
CACCACTCCCTCCCCGTGAGGCCCCCCCACCACTCCCTCCCCGTGAACCC
CCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCC
CCCCGACCGCTCCCTCCCCGTGAGTCCCCCGACCACTCCCTCCCCGTGAG
CCCCCCGACCGCTCCCTCCCTGTGAGCCTCCCCGGACCACTCCCTCCCCG
TGAGGCCCCCACCACTCCCTCCCTGTGAGCCGCCCAAACCACTCCCCTCC
TGTGAGCCCCCCGACCACTCCCTCCCCGTGAGGCCCCCACCACCTCCCTC
CCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCC
TCCCCGTGAGCCCCCCGACCGCTCCCCTCCCCGTGAGTCCCCCGACCACT
CCCTCCCCGTGAGCCCCCCGACCGCTCCCTCCCTGTGAGCCTCCCCGGAC
CACTCCCCTCCCCGTGAGGCCCCCACCACTCCCTCCCTGTGAGCCGCCCA
AACCACTCCCTCCCTGTGAGCCCCCCGACCACTCCCTCCCCGTGAGGCCC
CCACCACTCCCTCCCTGTGAGCCGCCCAAACCACTCCCTCCCCGTGAGCC
CCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAA
CCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGA
GCCCCCCGACCACTCCCTCCCCGTGAGCCCCCCGACCGCTCCCTCCCTGT
GAGCCTCCCCGGACCACTCCCTCCC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049932
chr19:1049932 C
C
 CACCGCTC
others(2255): Show 
CACCGCTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCCC
CCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGGC
CCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAG
CCCCCCCACCGCTCCCTCCCCGTGAGTCCCCCCACCACTCCCTCCCCGTG
AGCCGCCCCACCACTCCCTCCCCGTGAGTCCCCCGACCGCTCCCTCCCCG
TGAGGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCC
CGTGAGCCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCT
CCCCGTGAGCCGCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCGCTCC
CTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACT
CCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCA
CTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCAC
CACTCCCTCCCCGTGAGCCCCCCCACCGCTCCCTCCCCGTGAGTCCCCCA
CCCACTCCCTCCCTGTGAGCCCCCACCACTCCCTCCCCGTGAGGCCCCCC
ACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGTGAGCCCCCC
CACCGCTCCCTCCCCGTGAGTCCCCCCCACCACTCCCTCCCCGTGAGCCC
CCCACCGCTCCCTCCCCGTGAGTCCCCCCACCACTCCCTCCCTGTGAGCC
CCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCCGTGAG
CCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCGCTCCCTCCCTGTGAG
TCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCGCTCCCTCCCCGTG
AGCCCCCCCACCGCTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCG
TGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCC
CGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCGCCCCACCACTCCCTC
CCCGTGAGCCCCCCCACCGCTCCCTCCCCGTGAGTCCCCCCACCACTCCC
TCCCCGTGAGCCGCCCCACCACTCCCTCCCCGTGAGTCCCCCGACCGCTC
CCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCAC
TCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACC
ACTCCCTCCCCGTGAGGCCCCCCACCCACTCCCTCCCCGTGAGCCCCCCC
ACCGCTCCCTCCCTGTGAGTCCCCCACCACTCCCTCCCTGTGAGCCCCCG
ACCGCTCCCTCCCCGTGAGGCCCCCCCACCACTCCCTCCCCGTGAGCCCC
CCCACCACTCCCTCCCCGTGAGCCCCCCCACCCACTCCCTCCCCGTGAGC
CCCCCCCACCGCTCCCTCCCTGTGAGTCCCCCACCACTCCCTCCCTGTGA
GCCCCCCGACCGCTCCCTCCCCGTGAGGCCCCCCCACCACTCCCCTCCCC
GTGAGGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCTCCCT
GTGAGCCCCCCCGGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCT
CCCTGTGAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCC
TCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCACCACTCC
CTCCCCGTGAGCCCCCCGACCGCTCCCTCCCCGTGAGGCCCCCCACCCAC
TCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACC
ACTCCCTCCCCGTGACCGACCGCTCCCTCCCCGTGAGTCCCCCGACCACT
CCCTCCCCGTGAGCCCCCCGACCGCTCCCTCCCTGTGAGCCTCCCCGGAC
CACTCCCTCCCCGTGAGGCCCCCACCACTCCCTCCCTGTGAGCCGCCCAA
ACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCCGTGAGGCCCCC
CCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCCTCCCCGTGAGCCC
CCCCACCACTCCCTCCCCGTGAGCCCCCCCGACCGCTCCCTCCCCGTGAG
TCCCCCGACCACTCCCTCCCCGTGAGCCCCCCCGACCGCTCCCCTCCCTG
TGAGCCTCCCCGG
 1 a0014c0019t0002g0029
a0014c0019t0002g0029
 1 HG02071.hp1
HG02071.hp1
 intron_variant MODIFIER c.2552+498_2552+499i
others(2264): Show 
c.2552+498_2552+499insGCTCCCTCCCCGTGAGGCCCCCCACCAC
TCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACC
ACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCA
CCACTCCCTCCCCGTGAGCCCCCCCACCGCTCCCTCCCCGTGAGTCCCCC
CACCACTCCCTCCCCGTGAGCCGCCCCACCACTCCCTCCCCGTGAGTCCC
CCGACCGCTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCC
CCCCCACCACTCCCTCCCCGTGAGCCCCCCCCACCACTCCCTCCCCGTGA
GCCCCCCCACCACTCCCTCCCCGTGAGCCGCCCCACCACTCCCTCCCCGT
GAGCCCCCCGACCGCTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCC
GTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCC
CCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCT
CCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCGCTCC
CTCCCCGTGAGTCCCCCACCCACTCCCTCCCTGTGAGCCCCCACCACTCC
CTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTC
CCTCCCCGTGAGCCCCCCCACCGCTCCCTCCCCGTGAGTCCCCCCCACCA
CTCCCTCCCCGTGAGCCCCCCACCGCTCCCTCCCCGTGAGTCCCCCCACC
ACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCAC
CACTCCCTCCCCCGTGAGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCA
CCGCTCCCTCCCTGTGAGTCCCCCCACCACTCCCTCCCCGTGAGCCCCCC
CACCGCTCCCTCCCCGTGAGCCCCCCCACCGCTCCCTCCCCGTGAGGCCC
CCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCC
CCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAG
CCGCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCGCTCCCTCCCCGTG
AGTCCCCCCACCACTCCCTCCCCGTGAGCCGCCCCACCACTCCCTCCCCG
TGAGTCCCCCGACCGCTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCC
CGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTC
CCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCCACTCC
CTCCCCGTGAGCCCCCCCACCGCTCCCTCCCTGTGAGTCCCCCACCACTC
CCTCCCTGTGAGCCCCCGACCGCTCCCTCCCCGTGAGGCCCCCCCACCAC
TCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACC
CACTCCCTCCCCGTGAGCCCCCCCCACCGCTCCCTCCCTGTGAGTCCCCC
ACCACTCCCTCCCTGTGAGCCCCCCGACCGCTCCCTCCCCGTGAGGCCCC
CCCACCACTCCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAAC
CCCCCACCACTCCTCCCTGTGAGCCCCCCCGGACCACTCCCTCCCCGTGA
GGCCCCCCACCACTCCCTCCCTGTGAACCCCCCACCACTCCCTCCCCGTG
AGGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTG
TGAGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCGCTCCCTCCCC
GTGAGGCCCCCCACCCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTC
CCCGTGAGCCCCCCCACCACTCCCTCCCCGTGACCGACCGCTCCCTCCCC
GTGAGTCCCCCGACCACTCCCTCCCCGTGAGCCCCCCGACCGCTCCCTCC
CTGTGAGCCTCCCCGGACCACTCCCTCCCCGTGAGGCCCCCACCACTCCC
TCCCTGTGAGCCGCCCAAACCACTCCCTCCCTGTGAGCCCCCCACCACTC
CCTCCCCGTGAGGCCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCAC
TCCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCGA
CCGCTCCCTCCCCGTGAGTCCCCCGACCACTCCCTCCCCGTGAGCCCCCC
CGACCGCTCCCCTCCCTGTGAGCCTCCCCGGACC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049932
chr19:1049932 C
C
 G
G
 3 a0001c0001t0003g0015
a0001c0001t0003g0018
a0017c0017t0001g0027
a0001c0001t0003g0015
a0001c0001t0003g0018
a0017c0017t0001g0027
 3 HG01071.hp1
HG01071.hp2
NA19079.hp1
HG01071.hp1
HG01071.hp2
NA19079.hp1
 intron_variant MODIFIER c.2552+495C>G
c.2552+495C>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049932
chr19:1049936 A
A
 G
G
 5 a0004c0004t0001g0023
a0005c0022t0001g0004
a0009c0007t0002g0005
others(2): Show 
a0004c0004t0001g0023
a0005c0022t0001g0004
a0009c0007t0002g0005
a0013c0013t0002g0030
a0018c0015t0001g0022
 5 HG00673.hp1
HG02451.hp2
NA18970.hp1
others(2): Show 
HG00673.hp1
HG02451.hp2
NA18970.hp1
NA19079.hp2
NA20905.hp2
 intron_variant MODIFIER c.2552+499A>G
c.2552+499A>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049936
chr19:1049946 T
T
 C
C
 6 a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0018
others(3): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0018
a0014c0019t0002g0029
a0015c0018t0001g0028
a0017c0017t0001g0027
 6 HG00673.hp2
HG01071.hp1
HG01071.hp2
others(3): Show 
HG00673.hp2
HG01071.hp1
HG01071.hp2
HG02071.hp1
HG03688.hp1
NA19079.hp1
 intron_variant MODIFIER c.2552+509T>C
c.2552+509T>C
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049946
chr19:1049946 T
T
 TGTGAACC
others(4627): Show 
TGTGAACCCCCCCGGACCACTCCCTCCCCGTGAGGCCCCCCCACCACTCC
CTCCCTGTGAGCCCCCCCGGACCACTCCCTCCCCGTGAGGCCCCCCACCA
CTCCCTCCCTGTGAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACC
ACTCCCTCCCTGTGAACCCCCCACCACTCCCTCCCCGTGAACCCCCCACC
ACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCA
CCACTCCCTCCCTGTGAACCCCCCACCACTCCCTCCCCGTGAACCCCCCA
CCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTCCCCGTGAGGCCCCC
CACCACTCCCTCCCCGTGAGCCCCCCGACCGCTCCCTCCCCGTGAGCCCC
CCCGGACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAG
CCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTG
AGGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCGCTCCCTCCCCG
TGAGCCCCCCGACCGCTCCCTCCCTGTGAGCCTCCCCGGACCACTCCCTC
CCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCACTCCC
TCCCCGTGAGCCCCCCGACCACTCCCTCCCTGTGAGCCCCCCCACCACTC
CCTCCCTGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACT
CCCTCCCCGTGAGCCCCCCGACCGCTCCCTCCCCGTGAGCCCCCCCACCG
CTCCCTCCCCGTGAGCCCCCCGACCGCTCCCTCCCCGTGAGCCCCCCCAC
CACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCC
ACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCC
CGACCGCTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCC
CCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGG
CCCCCCACCACTCCCTCCCCGTGAGGCCCCCACCACTCCCTCCCCGTGAG
GCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGA
GCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGT
GAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCC
GTGAGCCCCCCGACCGCTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCC
CCGTGAGCCCCCCCACCGCTCCCTCCCCGTGAGCCCCCCCACCGCTCCCT
CCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCC
CTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCGCT
CCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCA
CTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCAC
CACTCCCTCCCCGTGAGCCCCCCGACCGCTCCCTCCCCGTGAGGCCCCCC
ACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCCCC
CCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCC
CCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGC
CCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCGCTCCCTCCCCGTGA
GGCCCCCCACCACTCCCTCCCTGTGAACCCCCCACCACTCCCTCCCCGTG
AGGCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGT
GAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCG
TGAACCCCCCACCACTCCCTCCCTGTGAGCCCCCCCGGACCACTCCCTCC
CCGTGAGGCCCCCCACCACTCCCTCCCTGTGAACCCCCCACCACTCCCTC
CCCGTGAACCCCCCACCACTCCCTCCCTGTGAGCCCCCCCGGACCACTCC
CTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAACCCCCCACCACTC
CCTCCCTGTGAACCCCCCACCACTCCCTCCCTGTGAGCCCCCCCGGACCA
CTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACC
ACTCCCTCCCCGTGAGCCCCCCGACCGCTCCCTCCCCGTGAGTCCCCCCA
CCGCTCCCTCCCCGTGAGCCCCCCGACCGCTCCCTCCCCGTGAGGCCCCC
CACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCC
CCACCACTCCCTCCCCGTGAACCCCCCCACCACTCCCTCCCTGTGAACCC
CCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGGC
CCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAG
GCCCCCGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTG
AACCCCCCACCACTCCCTCCCTGTGAACCCCCCCGGACCACTCCCTCCCC
GTGAGGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCC
CCGTGAACCCCCCACCACTCCCTCCCTGTGAACCCCCCACCACTCCCTCC
CTGTGAGCCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTC
CCTGTGAGCCCCCCCGGACCACTCCCTCCCCGTGAGGCCCCCCACCACTC
CCTCCCTGTGAACCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTC
CCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAACCCCCCACCACT
CCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCAC
TCCCTCCCTGTGAACCCCCCACCACTCCCTCCCTGTGAACCCCCCGACCA
CTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAACCCCCCACCA
CTCCCTCCCTGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCAC
CACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCCA
CCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGGCCCCC
CACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCC
CCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGGCCC
CCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGGC
CCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGG
CCCCCCACCACTCCCTCCCTGTGAGTCCCCCACCACTCCCTCCCCGTGAG
CCCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGTGA
ACCCCCCACCACTCCCTCCCCGTGAACCCCCCCACCACTCCCTCCCCGTG
AGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGT
GAACCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGT
GAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCC
GTGAGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCC
GTGAGGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCC
CGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTC
CCCGTGAACCCCCCACCACTCCCTCCCTGTGAGCCCCCCCGGACCACTCC
CTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAACCCCCCACCACTC
CCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCAC
TCCCTCCCCGTGAACCCCCCACCACTCCCTCCCTGTGAACCCCCCACCAC
TCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCACCA
CTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCACC
ACTCCCTCCCCGTGAGCCCCCCGACCGCTCCCTCCCCGTGAGGCCCCCCA
CCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCC
GACCGCTCCCTCCCCGTGAGTCCCCCGACCACTCCCTCCCCGTGAGCCCC
CCGACCGCTCCCCTCCCTGTGAGCCTCCCCGGACCACTCCCTCCCCGTGA
GGCCCCCGACCACTCCCTCCCCGTGAGCCCCCCGACCGCTCCCTCCCTGT
GAGCCTCCCCGGACCACTCCCTCCCCCGTGAGGCCCCCCACCACTCCCTC
CCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCGCTCCC
TCCCCGTGAGTCCCCCGACCACTCCCTCCCCGTGAGCCCCCCGACCGCTC
CCTCCCTGTGAGCCTCCCCGGACCACTCCCTCCCC
 1 a0019c0012t0001g0026
a0019c0012t0001g0026
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.2552+513_2552+514i
others(4636): Show 
c.2552+513_2552+514insACCCCCCCGGACCACTCCCTCCCCGTGA
GGCCCCCCCACCACTCCCTCCCTGTGAGCCCCCCCGGACCACTCCCTCCC
CGTGAGGCCCCCCACCACTCCCTCCCTGTGAACCCCCCACCACTCCCTCC
CCGTGAGGCCCCCCACCACTCCCTCCCTGTGAACCCCCCACCACTCCCTC
CCCGTGAACCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCT
CCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAACCCCCCACCACTCCC
TCCCCGTGAACCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCC
CTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCGCT
CCCTCCCCGTGAGCCCCCCCGGACCACTCCCTCCCCGTGAGCCCCCCCAC
CACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCC
ACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCCCC
CGACCGCTCCCTCCCCGTGAGCCCCCCGACCGCTCCCTCCCTGTGAGCCT
CCCCGGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGA
GCCCCCCGACCACTCCCTCCCCGTGAGCCCCCCGACCACTCCCTCCCTGT
GAGCCCCCCCACCACTCCCTCCCTGTGAACCCCCCACCACTCCCTCCCCG
TGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCGCTCCCTCCC
CGTGAGCCCCCCCACCGCTCCCTCCCCGTGAGCCCCCCGACCGCTCCCTC
CCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCC
TCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTC
CCTCCCCGTGAGCCCCCCGACCGCTCCCTCCCCGTGAGCCCCCCCACCAC
TCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACC
ACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCAC
CACTCCCTCCCCGTGAGGCCCCCACCACTCCCTCCCCGTGAGCCCCCCCA
CCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCC
CACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCC
CCCACCACTCCCTCCCCGTGAGCCCCCCGACCGCTCCCTCCCCGTGAGCC
CCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCGCTCCCTCCCCGTGAG
CCCCCCCACCGCTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTG
AGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCG
TGAGCCCCCCCACCGCTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCC
CGTGAGCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTC
CCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCGCTCCC
TCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTC
CCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCAC
TCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACC
ACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCGA
CCGCTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAACCCCCC
ACCACTCCCTCCCCGTGAGGCCCCCACCACTCCCTCCCCGTGAGGCCCCC
CACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGGCCCC
CCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCTGTGAGCCCC
CCCGGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAA
CCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCTGTGAG
CCCCCCCGGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTG
TGAACCCCCCACCACTCCCTCCCTGTGAACCCCCCACCACTCCCTCCCTG
TGAGCCCCCCCGGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTC
CCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCGCTCCCT
CCCCGTGAGTCCCCCCACCGCTCCCTCCCCGTGAGCCCCCCGACCGCTCC
CTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTC
CCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAACCCCCCCACCAC
TCCCTCCCTGTGAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCA
CTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCAC
CACTCCCTCCCCGTGAGGCCCCCGACCACTCCCTCCCCGTGAGGCCCCCC
ACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCTGTGAACCCCCC
CGGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGGC
CCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCTGTGAAC
CCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTCCCCGTGAA
CCCCCCACCACTCCCTCCCTGTGAGCCCCCCCGGACCACTCCCTCCCCGT
GAGGCCCCCCACCACTCCCTCCCTGTGAACCCCCCACCACTCCCTCCCCG
TGAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCT
GTGAACCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCC
GTGAGGCCCCCCACCACTCCCTCCCTGTGAACCCCCCACCACTCCCTCCC
TGTGAACCCCCCGACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCC
CCGTGAACCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTC
CCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCT
CCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCC
CTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTC
CCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACT
CCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCA
CTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACC
ACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAGTCCCCCAC
CACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCA
CCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAACCCCCCC
ACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCC
CACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAACCCCC
CACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCC
CCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGTGAACCC
CCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAACC
CCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGC
CCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCTGTGAG
CCCCCCCGGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTG
TGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCC
GTGAGGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCC
TGTGAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCC
CCGTGAGGCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTC
CCTGTGAGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCGCTCCCT
CCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCC
CTCCCCGTGAGCCCCCCGACCGCTCCCTCCCCGTGAGTCCCCCGACCACT
CCCTCCCCGTGAGCCCCCCGACCGCTCCCCTCCCTGTGAGCCTCCCCGGA
CCACTCCCTCCCCGTGAGGCCCCCGACCACTCCCTCCCCGTGAGCCCCCC
GACCGCTCCCTCCCTGTGAGCCTCCCCGGACCACTCCCTCCCCCGTGAGG
CCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGA
GCCCCCCGACCGCTCCCTCCCCGTGAGTCCCCCGACCACTCCCTCCCCGT
GAGCCCCCCGACCGCTCCCTCCCTGTGAGCCTCCCCGGACCACTCCCTCC
CCGTGA
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049946
chr19:1049950 A
A
 AG
AG
 2 a0001c0001t0003g0016
a0001c0001t0003g0018
a0001c0001t0003g0016
a0001c0001t0003g0018
 2 HG00673.hp2
NA19079.hp1
HG00673.hp2
NA19079.hp1
 intron_variant MODIFIER c.2552+514dupG
c.2552+514dupG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049950
chr19:1049950 A
A
 AGCCCCCC
others(608): Show 
AGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGT
GAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTG
TGAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCT
GTGAGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCC
TGTGAGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCC
CTGTGAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTC
CCTGTGAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCT
CCCTGTGAGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCC
TCCCTGTGAGCCCCCCGACCACTCCCTCCCCGTGAGGCCCCCCACCACTC
CCTCCCTGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCACT
CCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAACCCCCCACCAC
TCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACC
ACTCCCTCCCCGTGAG
 1 a0001c0001t0003g0017
a0001c0001t0003g0017
 1 HG02071.hp2
HG02071.hp2
 intron_variant MODIFIER c.2552+514_2552+515i
others(617): Show 
c.2552+514_2552+515insCCCCCCACCACTCCCTCCCCGTGAGGCC
CCCCACCACTCCCTCCCTGTGAACCCCCCACCACTCCCTCCCCGTGAGGC
CCCCCACCACTCCCTCCCTGTGAACCCCCCACCACTCCCTCCCCGTGAGG
CCCCCCACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCCGTGAG
GCCCCCCACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCCGTGA
GGCCCCCCACCACTCCCTCCCTGTGAACCCCCCACCACTCCCTCCCCGTG
AGGCCCCCCACCACTCCCTCCCTGTGAACCCCCCACCACTCCCTCCCCGT
GAGGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCCG
TGAGGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCGACCACTCCCTCCC
CGTGAGGCCCCCCACCACTCCCTCCCTGTGAACCCCCCACCACTCCCTCC
CCGTGAGCCCCCCGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCT
CCCTGTGAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCC
TCCCCGTGAGCCCCCCGACCACTCCCTCCCCGTGAGG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049950
chr19:1049952 T
T
 C
C
 10 a0001c0001t0003g0016
a0001c0001t0003g0017
a0001c0001t0003g0018
others(7): Show 
a0001c0001t0003g0016
a0001c0001t0003g0017
a0001c0001t0003g0018
a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
a0003c0005t0002g0002
a0003c0005t0002g0003
a0007c0021t0001g0001
a0012c0016t0001g0024
 10 HG00673.hp2
HG02071.hp2
HG02145.hp2
others(7): Show 
HG00673.hp2
HG02071.hp2
HG02145.hp2
HG02451.hp1
HG02970.hp1
NA18983.hp1
NA19079.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.2552+515T>C
c.2552+515T>C
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049952
chr19:1049952 T
T
 G
G
 5 a0001c0001t0003g0015
a0014c0019t0002g0029
a0015c0018t0001g0028
others(2): Show 
a0001c0001t0003g0015
a0014c0019t0002g0029
a0015c0018t0001g0028
a0017c0017t0001g0027
a0019c0012t0001g0026
 5 HG01071.hp1
HG01071.hp2
HG02071.hp1
others(2): Show 
HG01071.hp1
HG01071.hp2
HG02071.hp1
HG03688.hp1
HG03688.hp2
 intron_variant MODIFIER c.2552+515T>G
c.2552+515T>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049952
chr19:1049952 T
T
 TCCCCCAC
others(798): Show 
TCCCCCACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCTGTGAG
TCCCCCACCACTCCCTCCCTGTGAGTCCCCCGACCACTCCCTCCCTTTGA
GCCCCCCCGGACCACTCCCTCCCTGTGAGCCGCCCAAACCACTCCCTCCC
TGTGAGTCCCCCACCACTCCCTCCCCGTGAGTCCCCCGACCACTCCCTCC
CTTTGAGCCCCCCCGGACCACTCCCTCCCTGTGAGCCCCCCACCACTCCC
TCCCTGTGAGTCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCC
CTCCCTTTGAGCCCCCCCGGACCACTCCCTCCCTGTGAGCCCCCCACCAC
TCCCTCCCTGTGAGTCCCCCACCACTCCCTCCCTGTGAGTCCCCCGACCA
CTCCCTCCCTTTGAGCCCCCCCGGACCACTCCCTCCCTGTGAGCCCCCCA
CCACTCCCTCCCTGTGAGTCCCCCACCACTCCCTCCCTGTGAGCCCCCCC
ACCACTCCCTCCCTTTGAGCCCCCCCGGACCACTCCCTCCCTGTGAGCCC
CCCACCACTCCCTCCCTGTGAGGCCCCCCACCACTCCCTCCCTGTGAGCC
GCCCAAACCACTCCCTCCCTGTGAGCCCCCCACCACTTCCTCCCTGTGAG
TCCCCCACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCTGTGAG
TCCCCCACCACTCCCTCCCTGTGAGTCCCCCGACCACTCCCTCCCTTTGA
GCCCCCCCGGACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCTG
TGAGGC
 1 a0016c0014t0002g0025
a0016c0014t0002g0025
 1 NA19066.hp1
NA19066.hp1
 intron_variant MODIFIER c.2552+541_2552+542i
others(807): Show 
c.2552+541_2552+542insCCCCACCACTCCCTCCCTGTGAGTCCCC
CACCACTCCCTCCCTGTGAGTCCCCCGACCACTCCCTCCCTTTGAGCCCC
CCCGGACCACTCCCTCCCTGTGAGCCGCCCAAACCACTCCCTCCCTGTGA
GTCCCCCACCACTCCCTCCCCGTGAGTCCCCCGACCACTCCCTCCCTTTG
AGCCCCCCCGGACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCT
GTGAGTCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTCCC
TTTGAGCCCCCCCGGACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCT
CCCTGTGAGTCCCCCACCACTCCCTCCCTGTGAGTCCCCCGACCACTCCC
TCCCTTTGAGCCCCCCCGGACCACTCCCTCCCTGTGAGCCCCCCACCACT
CCCTCCCTGTGAGTCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCAC
TCCCTCCCTTTGAGCCCCCCCGGACCACTCCCTCCCTGTGAGCCCCCCAC
CACTCCCTCCCTGTGAGGCCCCCCACCACTCCCTCCCTGTGAGCCGCCCA
AACCACTCCCTCCCTGTGAGCCCCCCACCACTTCCTCCCTGTGAGTCCCC
CACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCTGTGAGTCCCC
CACCACTCCCTCCCTGTGAGTCCCCCGACCACTCCCTCCCTTTGAGCCCC
CCCGGACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCTGTGAGG
CCCCCCACCACTCCCTCCCTGTGAGCC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049952
chr19:1049954 C
C
 G
G
 3 a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
 3 NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.2552+517C>G
c.2552+517C>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049954
chr19:1049957 C
C
 CAA
CAA
 3 a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
 3 NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.2552+521_2552+522i
others(4): Show 
c.2552+521_2552+522insAA
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049957
chr19:1049957 C
C
 CACCACTC
others(45): Show 
CACCACTCCCTCCCTGTGAGTCCCCCACCACTCCCTCCCTGTGAGCCGCC
CAA
 1 a0001c0001t0003g0019
a0001c0001t0003g0019
 1 NA19066.hp2
NA19066.hp2
 intron_variant MODIFIER c.2552+539_2552+540i
others(54): Show 
c.2552+539_2552+540insTCCCCCACCACTCCCTCCCTGTGAGCCG
CCCAAACCACTCCCTCCCTGTGAG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1049957
chr19:1049971 T
T
 C
C
 1 a0012c0016t0001g0024
a0012c0016t0001g0024
 1 NA18983.hp1
NA18983.hp1
 intron_variant MODIFIER c.2552+534T>C
c.2552+534T>C
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049971
chr19:1049977 C
C
 G
G
 1 a0012c0016t0001g0024
a0012c0016t0001g0024
 1 NA18983.hp1
NA18983.hp1
 intron_variant MODIFIER c.2552+540C>G
c.2552+540C>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049977
chr19:1049979 G
G
 C
C
 1 a0012c0016t0001g0024
a0012c0016t0001g0024
 1 NA18983.hp1
NA18983.hp1
 intron_variant MODIFIER c.2552+542G>C
c.2552+542G>C
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049979
chr19:1049983 A
A
 C
C
 1 a0012c0016t0001g0024
a0012c0016t0001g0024
 1 NA18983.hp1
NA18983.hp1
 intron_variant MODIFIER c.2552+546A>C
c.2552+546A>C
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049983
chr19:1049984 A
A
 ACCACTCC
others(989): Show 
ACCACTCCCTCCCCGTGAGCCCCCCCGGACCACTCCCTCCCCGTGAGGCC
CCCCACCACTCCCTCCCTGTGAACCCCCCCACCACTCCCTCCCCGTGAGG
CCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCCGGACCACTCCCTCCCC
GTGAGGCCCCCCACCACTCCCTCCCTGTGAACCCCCCACCACTCCCTCCC
CCGTGAGGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCCT
CCCTGTGAGCCCCCCCACCACTCCCTCCCCGTGAACCCCCCCACCACTCC
CTCCCTGTGAGCCCCCCCACCACTCCCTCCCTGTGAACCCCCCACCACTC
CCTCCCTGTGAGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACT
CCCTCCCCGTGAGCCCCCCCGACCGCTCCCTCCCCGTGAGTCCCCCGACC
ACTCCCTCCCTGTGAGCCCCCCGACCGCTCCCTCCCCGTGAGTCCCCCGA
CCACTCCCTCCCTGTGAGCCCCCCCGGACCACTCCCTCCCTGTGAGTTCC
CCCCACCACTCCCTCCCTGTGAGCCCCCCCCACCACTCCCTCCCCGTGAG
GCCCCCCGGACCACTCCCTCCCTGTGAGTTCCCCCACCACTCCCTCCCCG
TGAGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCGCTCCCTCCCC
GTGAGTCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCC
TGTGAGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCC
CGTGAGGCCCCCCCACCACTCCCCTCCCCTGTGAGCCCCCCCACCACTCC
CTCCCTGTGAGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTC
CCTCCCTGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCCACCA
CTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCC
 1 a0012c0016t0001g0024
a0012c0016t0001g0024
 1 NA18983.hp1
NA18983.hp1
 intron_variant MODIFIER c.2552+547_2552+548i
others(998): Show 
c.2552+547_2552+548insCCACTCCCTCCCCGTGAGCCCCCCCGGA
CCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAACCCCCC
CACCACTCCCTCCCCGTGAGGCCCCCCCACCACTCCCTCCCCGTGAGCCC
CCCCCGGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTG
AACCCCCCACCACTCCCTCCCCCGTGAGGCCCCCCACCACTCCCTCCCCG
TGAACCCCCCACCACTCCCCTCCCTGTGAGCCCCCCCACCACTCCCTCCC
CGTGAACCCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTC
CCTGTGAACCCCCCACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTC
CCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCGACCGCTCC
CTCCCCGTGAGTCCCCCGACCACTCCCTCCCTGTGAGCCCCCCGACCGCT
CCCTCCCCGTGAGTCCCCCGACCACTCCCTCCCTGTGAGCCCCCCCGGAC
CACTCCCTCCCTGTGAGTTCCCCCCACCACTCCCTCCCTGTGAGCCCCCC
CCACCACTCCCTCCCCGTGAGGCCCCCCGGACCACTCCCTCCCTGTGAGT
TCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGTGAG
CCCCCCGACCGCTCCCTCCCCGTGAGTCCCCCACCACTCCCTCCCCGTGA
GGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCTGTG
AGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCCACCACTCCCCTCCCC
TGTGAGCCCCCCCACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCC
CCGTGAGGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCT
CCCCGTGAGCCCCCCCCACCACTCCCTCCCTGTGAGCCCCCCACCACTCC
CTCCCCGTGAGGCCCCCC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1049984
chr19:1050131 G
G
 C
C
 19 a0001c0001t0003g0017
a0002c0003t0001g0007
a0002c0003t0001g0009
others(16): Show 
a0001c0001t0003g0017
a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
a0002c0011t0001g0012
a0003c0005t0002g0002
a0003c0005t0002g0003
a0004c0004t0001g0021
a0004c0004t0001g0023
a0005c0022t0001g0004
a0006c0020t0002g0020
a0007c0021t0001g0001
a0012c0016t0001g0024
a0013c0013t0002g0030
a0014c0019t0002g0029
a0015c0018t0001g0028
a0017c0017t0001g0027
a0018c0015t0001g0022
a0019c0012t0001g0026
 19 HG00673.hp1
HG01071.hp2
HG02071.hp1
others(16): Show 
HG00673.hp1
HG01071.hp2
HG02071.hp1
HG02071.hp2
HG02145.hp1
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02970.hp1
HG02970.hp2
HG03688.hp1
HG03688.hp2
NA18970.hp1
NA18983.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2552+694G>C
c.2552+694G>C
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1050131
chr19:1050413 A
A
 AAAAAATA
others(336): Show 
AAAAAATAAAAATAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC
ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA
TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA
GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG
GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT
TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT
CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAATAAAAAT
 1 a0016c0014t0002g0025
a0016c0014t0002g0025
 1 NA19066.hp1
NA19066.hp1
 intron_variant MODIFIER c.2553-494_2553-493i
others(345): Show 
c.2553-494_2553-493insGGCCGGGCGCGGTGGCTCACGCCTGTAA
TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATC
GAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAA
AAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA
GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAG
CCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAG
ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAATAAAAA
TAAAAATAAAAATAA
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1050413
chr19:1050413 A
A
 AAAAAATA
others(335): Show 
AAAAAATAAAAATAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC
ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA
TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA
GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG
GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT
TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT
CTCAAAAAAAAAAAAAAAAAAAAAAATAAAATAAAATAAAAAT
 2 a0008c0006t0002g0006
a0009c0007t0002g0005
a0008c0006t0002g0006
a0009c0007t0002g0005
 2 NA18983.hp2
NA19079.hp2
NA18983.hp2
NA19079.hp2
 intron_variant MODIFIER c.2553-494_2553-493i
others(344): Show 
c.2553-494_2553-493insGGCCGGGCGCGGTGGCTCACGCCTGTAA
TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATC
GAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAA
AAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA
GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAG
CCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAG
ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATAAAATAAAATAAAAAT
AAAAATAAAAATAA
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1050413
chr19:1050596 A
A
 G
G
 7 a0003c0005t0002g0003
a0005c0022t0001g0004
a0007c0021t0001g0001
others(4): Show 
a0003c0005t0002g0003
a0005c0022t0001g0004
a0007c0021t0001g0001
a0014c0019t0002g0029
a0015c0018t0001g0028
a0017c0017t0001g0027
a0019c0012t0001g0026
 7 HG01071.hp2
HG02071.hp1
HG02451.hp1
others(4): Show 
HG01071.hp2
HG02071.hp1
HG02451.hp1
HG02451.hp2
HG02970.hp1
HG03688.hp1
HG03688.hp2
 intron_variant MODIFIER c.2553-325A>G
c.2553-325A>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1050596
chr19:1050782 A
A
 AAAT
AAAT
 4 a0001c0001t0003g0016
a0001c0002t0002g0011
a0004c0004t0001g0021
others(1): Show 
a0001c0001t0003g0016
a0001c0002t0002g0011
a0004c0004t0001g0021
a0018c0015t0001g0022
 4 HG00673.hp2
HG02145.hp1
NA18970.hp1
others(1): Show 
HG00673.hp2
HG02145.hp1
NA18970.hp1
NA18970.hp2
 intron_variant MODIFIER c.2553-103_2553-101d
others(5): Show 
c.2553-103_2553-101dupTAA
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1050782
chr19:1050782 A
A
 AAATAAT
AAATAAT
 5 a0001c0001t0003g0015
a0001c0001t0003g0017
a0002c0003t0001g0009
others(2): Show 
a0001c0001t0003g0015
a0001c0001t0003g0017
a0002c0003t0001g0009
a0010c0010t0001g0013
a0011c0008t0002g0014
 5 HG01071.hp1
HG02071.hp2
HG02723.hp1
others(2): Show 
HG01071.hp1
HG02071.hp2
HG02723.hp1
HG02723.hp2
NA20805.hp2
 intron_variant MODIFIER c.2553-106_2553-101d
others(8): Show 
c.2553-106_2553-101dupTAATAA
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1050782
chr19:1050782 A
A
 AAATAATA
others(2): Show 
AAATAATAAT
 6 a0001c0001t0003g0018
a0002c0009t0001g0008
a0004c0004t0001g0023
others(3): Show 
a0001c0001t0003g0018
a0002c0009t0001g0008
a0004c0004t0001g0023
a0012c0016t0001g0024
a0013c0013t0002g0030
a0016c0014t0002g0025
 6 HG00673.hp1
NA18983.hp1
NA19066.hp1
others(3): Show 
HG00673.hp1
NA18983.hp1
NA19066.hp1
NA19079.hp1
NA20805.hp1
NA20905.hp2
 intron_variant MODIFIER c.2553-109_2553-101d
others(11): Show 
c.2553-109_2553-101dupTAATAATAA
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1050782
chr19:1050782 A
A
 AAATAATA
others(5): Show 
AAATAATAATAAT
 1 a0002c0003t0001g0007
a0002c0003t0001g0007
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.2553-112_2553-101d
others(14): Show 
c.2553-112_2553-101dupTAATAATAATAA
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1050782
chr19:1050782 AAATAATA
others(8): Show 
AAATAATAATAATAAT
 A
A
 9 a0003c0005t0002g0002
a0003c0005t0002g0003
a0005c0022t0001g0004
others(6): Show 
a0003c0005t0002g0002
a0003c0005t0002g0003
a0005c0022t0001g0004
a0006c0020t0002g0020
a0007c0021t0001g0001
a0014c0019t0002g0029
a0015c0018t0001g0028
a0017c0017t0001g0027
a0019c0012t0001g0026
 9 HG01071.hp2
HG02071.hp1
HG02145.hp2
others(6): Show 
HG01071.hp2
HG02071.hp1
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02970.hp1
HG02970.hp2
HG03688.hp1
HG03688.hp2
 intron_variant MODIFIER c.2553-115_2553-101d
others(17): Show 
c.2553-115_2553-101delTAATAATAATAATAA
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 INFO_REALIGN_3_PRIME chr19 1050782
chr19:1050836 T
T
 A
A
 2 a0003c0005t0002g0002
a0003c0005t0002g0003
a0003c0005t0002g0002
a0003c0005t0002g0003
 2 HG02145.hp2
HG02970.hp1
HG02145.hp2
HG02970.hp1
 intron_variant MODIFIER c.2553-85T>A
c.2553-85T>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1050836
chr19:1050837 T
T
 A
A
 8 a0003c0005t0002g0002
a0003c0005t0002g0003
a0005c0022t0001g0004
others(5): Show 
a0003c0005t0002g0002
a0003c0005t0002g0003
a0005c0022t0001g0004
a0006c0020t0002g0020
a0007c0021t0001g0001
a0015c0018t0001g0028
a0017c0017t0001g0027
a0019c0012t0001g0026
 8 HG01071.hp2
HG02145.hp2
HG02451.hp1
others(5): Show 
HG01071.hp2
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02970.hp1
HG02970.hp2
HG03688.hp1
HG03688.hp2
 intron_variant MODIFIER c.2553-84T>A
c.2553-84T>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1050837
chr19:1050875 A
A
 G
G
 19 a0001c0001t0003g0016
a0002c0003t0001g0007
a0002c0003t0001g0009
others(16): Show 
a0001c0001t0003g0016
a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
a0002c0011t0001g0012
a0003c0005t0002g0002
a0003c0005t0002g0003
a0004c0004t0001g0021
a0004c0004t0001g0023
a0005c0022t0001g0004
a0006c0020t0002g0020
a0007c0021t0001g0001
a0012c0016t0001g0024
a0013c0013t0002g0030
a0014c0019t0002g0029
a0015c0018t0001g0028
a0017c0017t0001g0027
a0018c0015t0001g0022
a0019c0012t0001g0026
 19 HG00673.hp1
HG00673.hp2
HG01071.hp2
others(16): Show 
HG00673.hp1
HG00673.hp2
HG01071.hp2
HG02071.hp1
HG02145.hp1
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02970.hp1
HG02970.hp2
HG03688.hp1
HG03688.hp2
NA18970.hp1
NA18983.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2553-46A>G
c.2553-46A>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 18/46 chr19 1050875
chr19:1051371 TACTGAGG
others(42): Show 
TACTGAGGTCCACGTGGGTAGGCAACCTTGCCCAAGGCTGGGTGTGACAC
 T
T
 9 a0003c0005t0002g0002
a0003c0005t0002g0003
a0005c0022t0001g0004
others(6): Show 
a0003c0005t0002g0002
a0003c0005t0002g0003
a0005c0022t0001g0004
a0006c0020t0002g0020
a0007c0021t0001g0001
a0014c0019t0002g0029
a0015c0018t0001g0028
a0017c0017t0001g0027
a0019c0012t0001g0026
 9 HG01071.hp2
HG02071.hp1
HG02145.hp2
others(6): Show 
HG01071.hp2
HG02071.hp1
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02970.hp1
HG02970.hp2
HG03688.hp1
HG03688.hp2
 intron_variant MODIFIER c.2825-67_2825-19del
others(49): Show 
c.2825-67_2825-19delACGTGGGTAGGCAACCTTGCCCAAGGCTGG
GTGTGACACACTGAGGTCC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 20/46 INFO_REALIGN_3_PRIME chr19 1051371
chr19:1051752 A
A
 G
G
 14 a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
others(11): Show 
a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
a0002c0011t0001g0012
a0003c0005t0002g0002
a0003c0005t0002g0003
a0004c0004t0001g0021
a0004c0004t0001g0023
a0005c0022t0001g0004
a0006c0020t0002g0020
a0007c0021t0001g0001
a0012c0016t0001g0024
a0013c0013t0002g0030
a0018c0015t0001g0022
 14 HG00673.hp1
HG02145.hp1
HG02145.hp2
others(11): Show 
HG00673.hp1
HG02145.hp1
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02970.hp1
HG02970.hp2
NA18970.hp1
NA18983.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2962+166A>G
c.2962+166A>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 21/46 chr19 1051752
chr19:1051934 G
G
 A
A
 2 a0010c0010t0001g0013
a0011c0008t0002g0014
a0010c0010t0001g0013
a0011c0008t0002g0014
 2 HG02723.hp1
HG02723.hp2
HG02723.hp1
HG02723.hp2
 splice_region_variant&intron_variant LOW c.2963-8G>A
c.2963-8G>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 21/46 chr19 1051934
chr19:1052196 G
G
 A
A
 2 a0010c0010t0001g0013
a0011c0008t0002g0014
a0010c0010t0001g0013
a0011c0008t0002g0014
 2 HG02723.hp1
HG02723.hp2
HG02723.hp1
HG02723.hp2
 intron_variant MODIFIER c.3148-18G>A
c.3148-18G>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 22/46 chr19 1052196
chr19:1052405 T
T
 A
A
 11 a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
others(8): Show 
a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
a0002c0011t0001g0012
a0004c0004t0001g0021
a0004c0004t0001g0023
a0010c0010t0001g0013
a0011c0008t0002g0014
a0012c0016t0001g0024
a0013c0013t0002g0030
a0018c0015t0001g0022
 11 HG00673.hp1
HG02145.hp1
HG02723.hp1
others(8): Show 
HG00673.hp1
HG02145.hp1
HG02723.hp1
HG02723.hp2
NA18970.hp1
NA18983.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3220+119T>A
c.3220+119T>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 23/46 chr19 1052405
chr19:1052521 A
A
 AG
AG
 4 a0001c0002t0002g0011
a0002c0003t0001g0009
a0003c0005t0002g0002
others(1): Show 
a0001c0002t0002g0011
a0002c0003t0001g0009
a0003c0005t0002g0002
a0014c0019t0002g0029
 4 HG02071.hp1
HG02145.hp2
NA18970.hp2
others(1): Show 
HG02071.hp1
HG02145.hp2
NA18970.hp2
NA20805.hp2
 intron_variant MODIFIER c.3220+241dupG
c.3220+241dupG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 23/46 INFO_REALIGN_3_PRIME chr19 1052521
chr19:1052620 G
G
 GGAGGGAG
others(379): Show 
GGAGGGAGAGGAGGAGGGGGAGGGAGAGGAGGAGGGGGAGGAGTAGGAGG
TGAGCAGAAGGGGAGGAGTAGGAGGGGGAGGAGGAGGGGGAGGGAGAGGA
GGAGGGGGAGGGAGAGGAGGAGGGGGAGGTAGAGGAGGAGGAGGAGGGAG
GAGAAAGGGAGGAGTAGGAGGGGAGCAGAAGGGGAGGAGTAGGAGGGGGA
GGAGGAGAGGGAGAGAGAGGAGGGGGGAGGAGAAGGGGAGGAGTAGGAGG
GAGAGGAGGAGGAGGGGGAGGGAGAGGAAGGGGAGGAGTAGGAGGGAGAG
GAGGAGGAAAGAGGAGGGGGAGGAGAAGGAGGAGGGGAGGAGAAGGAGGA
GGGGGAGAAGAAGGGGAAGAATAAGGGGGGAGGAGTA
 1 a0014c0019t0002g0029
a0014c0019t0002g0029
 1 HG02071.hp1
HG02071.hp1
 intron_variant MODIFIER c.3220+334_3220+335i
others(388): Show 
c.3220+334_3220+335insGAGGGAGAGGAGGAGGGGGAGGGAGAGG
AGGAGGGGGAGGAGTAGGAGGTGAGCAGAAGGGGAGGAGTAGGAGGGGGA
GGAGGAGGGGGAGGGAGAGGAGGAGGGGGAGGGAGAGGAGGAGGGGGAGG
TAGAGGAGGAGGAGGAGGGAGGAGAAAGGGAGGAGTAGGAGGGGAGCAGA
AGGGGAGGAGTAGGAGGGGGAGGAGGAGAGGGAGAGAGAGGAGGGGGGAG
GAGAAGGGGAGGAGTAGGAGGGAGAGGAGGAGGAGGGGGAGGGAGAGGAA
GGGGAGGAGTAGGAGGGAGAGGAGGAGGAAAGAGGAGGGGGAGGAGAAGG
AGGAGGGGAGGAGAAGGAGGAGGGGGAGAAGAAGGGGAAGAATAAGGGGG
GAGGAGTA
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 23/46 chr19 1052620
chr19:1052620 G
G
 GGAGGGAG
others(367): Show 
GGAGGGAGAGGAGGAGGGGGAGGGAGAGGAGGAGGGGGAGGAGTAGGAGG
TGAGCAGAAGGGGAGGAGTAGGAGGGGGAGGAGGAGGGGGAGGGGAGAGG
AGGAGGGGGAGGGAGAGGAGGAGGGGGAGGTAGAGGAGGAGGAGGAGGGA
GGAGTAGGAGGGGAGCAGAAGGGGAGGAGTAGGAGGGGGAGGAGGAGAGG
GAGAGAGAGGAGGGGGAGGAGAAGGGGAGGAGTAGGAGGGAGAGGAGGAG
GAGGGGGAGGGAGAGGAAGGGGAGGAGTAGGAGGGAGAGGAGGAGAAAGA
GGAGGGGGAGGAGAAGGAGGAGGGGAGGAGAAGGAGGAGGGGGAGAAGAA
GGGGAAGAATAAGGGGGGAGGAGTA
 1 a0002c0003t0001g0009
a0002c0003t0001g0009
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.3220+334_3220+335i
others(376): Show 
c.3220+334_3220+335insGAGGGAGAGGAGGAGGGGGAGGGAGAGG
AGGAGGGGGAGGAGTAGGAGGTGAGCAGAAGGGGAGGAGTAGGAGGGGGA
GGAGGAGGGGGAGGGGAGAGGAGGAGGGGGAGGGAGAGGAGGAGGGGGAG
GTAGAGGAGGAGGAGGAGGGAGGAGTAGGAGGGGAGCAGAAGGGGAGGAG
TAGGAGGGGGAGGAGGAGAGGGAGAGAGAGGAGGGGGAGGAGAAGGGGAG
GAGTAGGAGGGAGAGGAGGAGGAGGGGGAGGGAGAGGAAGGGGAGGAGTA
GGAGGGAGAGGAGGAGAAAGAGGAGGGGGAGGAGAAGGAGGAGGGGAGGA
GAAGGAGGAGGGGGAGAAGAAGGGGAAGAATAAGGGGGGAGGAGTA
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 23/46 chr19 1052620
chr19:1052625 A
A
 AGAGGAGG
others(347): Show 
AGAGGAGGAGGGGAGGAGTAGGAGGTGAGCAGAAGGGGAGGAGTAGGAGG
GGGAGGAGGAGGGGGAGGGAGAGGAGGAGGGGGAGGGAGAGGAGGAGGGG
GAGGTAGAGGAGGAGGAGGAGGGAGGAGTAGGAGGGGAGCAGAAGGGGGA
GGAGTAGGAGGGGGAGGAGGAGAGGGAGAGAGAGGAGGGGGAGGAGAAGG
GGAGGAGTAGGAGGGAGAGGAGGAGGAGGGGGAGGGAGAGGAAGGGGAGG
AGTAGGAGGGAGAGGAGGAGAAAGAGGAGGGGGAGGAGAAGGAGGAGGGG
AGGAGAAGGAGGAGGGGGAGAAGAAGGGGAAGAATAAGGGGGGAGGAGTA
AGGGG
 1 a0004c0004t0001g0023
a0004c0004t0001g0023
 1 HG00673.hp1
HG00673.hp1
 intron_variant MODIFIER c.3220+339_3220+340i
others(356): Show 
c.3220+339_3220+340insGAGGAGGAGGGGAGGAGTAGGAGGTGAG
CAGAAGGGGAGGAGTAGGAGGGGGAGGAGGAGGGGGAGGGAGAGGAGGAG
GGGGAGGGAGAGGAGGAGGGGGAGGTAGAGGAGGAGGAGGAGGGAGGAGT
AGGAGGGGAGCAGAAGGGGGAGGAGTAGGAGGGGGAGGAGGAGAGGGAGA
GAGAGGAGGGGGAGGAGAAGGGGAGGAGTAGGAGGGAGAGGAGGAGGAGG
GGGAGGGAGAGGAAGGGGAGGAGTAGGAGGGAGAGGAGGAGAAAGAGGAG
GGGGAGGAGAAGGAGGAGGGGAGGAGAAGGAGGAGGGGGAGAAGAAGGGG
AAGAATAAGGGGGGAGGAGTAAGGGG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 23/46 chr19 1052625
chr19:1052625 A
A
 AGAGGAGG
others(345): Show 
AGAGGAGGAGGGGGAGGAGTAGGAGGTGAGCAGAAGGGGAGGAGTAGGAG
GGGGAGGAGGAGGGGGAGGGAGAGGAGGAGGGGGAGGGAGAGGAGGAGGG
GGAGGTAGAGGAGGAGGAGGAGGGAGGAGTAGGAGGGGAGCAGAAGGGGA
GGAGTAGGAGGGGGAGGAGGAGAGGGAGAGAGAGGAGGGGGAGGAGAAGG
GGAGGAGTAGGAGGGAGAGGAGGAGGAGGGGGAGGGAGAGGAAGGGGAGG
AGTAGGAGGGAGAGGAGGAGAAAGAGGAGGGGGAGGAGAAGGAGGAGGGG
AGGAGAAGGAGGAGGGGGAGAAGAAGGGAAGAATAAGGGGGAGGAGTAAG
GGG
 1 a0012c0016t0001g0024
a0012c0016t0001g0024
 1 NA18983.hp1
NA18983.hp1
 intron_variant MODIFIER c.3220+339_3220+340i
others(354): Show 
c.3220+339_3220+340insGAGGAGGAGGGGGAGGAGTAGGAGGTGA
GCAGAAGGGGAGGAGTAGGAGGGGGAGGAGGAGGGGGAGGGAGAGGAGGA
GGGGGAGGGAGAGGAGGAGGGGGAGGTAGAGGAGGAGGAGGAGGGAGGAG
TAGGAGGGGAGCAGAAGGGGAGGAGTAGGAGGGGGAGGAGGAGAGGGAGA
GAGAGGAGGGGGAGGAGAAGGGGAGGAGTAGGAGGGAGAGGAGGAGGAGG
GGGAGGGAGAGGAAGGGGAGGAGTAGGAGGGAGAGGAGGAGAAAGAGGAG
GGGGAGGAGAAGGAGGAGGGGAGGAGAAGGAGGAGGGGGAGAAGAAGGGA
AGAATAAGGGGGAGGAGTAAGGGG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 23/46 chr19 1052625
chr19:1052625 A
A
 AGAGGAGG
others(347): Show 
AGAGGAGGAGGGGGAGGAGTAGGAGGTGAGCAGAAGGGGAGGAGTAGGAG
GGGGAGGAGGAGGGGGAGGGAGAGGAGGAGGGGGAGGGAGAGGAGGAGGG
GGAGGTAGAGGAGGAGGAGGAGGGAGGAGTAGGAGGGGAGCAGAAGGGGA
GGAGTAGGAGGGGGAGGAGGAGAGGGAGAGAGAGGAGGGGGAGGAGAAGG
GGAGGAGTAGGAGGGAGAGGAGGAGGAGGGGGAGGGAGAGGAAGGGGAGG
AGTAGGAGGGAGAGGAGGAGAAAGAGGAGGGGGAGGAGAAGGAGGAGGGG
AGGAGAAGGAGGAGGGGGAGAAGAAGGGGAAGAATAAGGGGGGAGGAGTA
AGGGG
 3 a0002c0011t0001g0012
a0004c0004t0001g0021
a0018c0015t0001g0022
a0002c0011t0001g0012
a0004c0004t0001g0021
a0018c0015t0001g0022
 3 HG02145.hp1
NA18970.hp1
homoSapiens_chm13v2.hp1
HG02145.hp1
NA18970.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3220+339_3220+340i
others(356): Show 
c.3220+339_3220+340insGAGGAGGAGGGGGAGGAGTAGGAGGTGA
GCAGAAGGGGAGGAGTAGGAGGGGGAGGAGGAGGGGGAGGGAGAGGAGGA
GGGGGAGGGAGAGGAGGAGGGGGAGGTAGAGGAGGAGGAGGAGGGAGGAG
TAGGAGGGGAGCAGAAGGGGAGGAGTAGGAGGGGGAGGAGGAGAGGGAGA
GAGAGGAGGGGGAGGAGAAGGGGAGGAGTAGGAGGGAGAGGAGGAGGAGG
GGGAGGGAGAGGAAGGGGAGGAGTAGGAGGGAGAGGAGGAGAAAGAGGAG
GGGGAGGAGAAGGAGGAGGGGAGGAGAAGGAGGAGGGGGAGAAGAAGGGG
AAGAATAAGGGGGGAGGAGTAAGGGG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 23/46 chr19 1052625
chr19:1052625 A
A
 AGAGGAGG
others(442): Show 
AGAGGAGGAGGGGGAGGGAGAGGAGGAGGGGGAGGAGTAGGAGGTGAGCA
GAAGGGGAGGAGTAGGAGGGGAGGAGGAGGGGGAGGGAGAGGAGGAGGGG
GAGGGAGAGGAGGAGGGGGAGGTAGAGGAGGAGGAGGAGGGAGGAGAAAG
GGAGGAGTAGGAGGGGAGCAGAAGGGGAGGAGTAGGAGGGGGAGGAGGAG
AGGGAGAGAGAGGAGGGGGAGGAGAAGGGGAGGAGTAGGAGGGAGAGGAG
GAGGAGGGGGAGGAGGAGAGGGAGAGAGAGGAGGGGGAGGAGAAGGGGAG
GAGTAGGAGGGAGAGGAGGAGGAGGGGGAGGGAGAGGAAGGGGAGGAGTA
GGAGGGAGAGGAGGAGAAAGAGGAGGGGAGGAGAAGGAGGAGGGGAGGAG
AAGGAGGAGGGGGAGAAGAAGGGGAAGAATAAGGGGGGAGGAGTAAGGGG
 1 a0017c0017t0001g0027
a0017c0017t0001g0027
 1 HG01071.hp2
HG01071.hp2
 intron_variant MODIFIER c.3220+339_3220+340i
others(451): Show 
c.3220+339_3220+340insGAGGAGGAGGGGGAGGGAGAGGAGGAGG
GGGAGGAGTAGGAGGTGAGCAGAAGGGGAGGAGTAGGAGGGGAGGAGGAG
GGGGAGGGAGAGGAGGAGGGGGAGGGAGAGGAGGAGGGGGAGGTAGAGGA
GGAGGAGGAGGGAGGAGAAAGGGAGGAGTAGGAGGGGAGCAGAAGGGGAG
GAGTAGGAGGGGGAGGAGGAGAGGGAGAGAGAGGAGGGGGAGGAGAAGGG
GAGGAGTAGGAGGGAGAGGAGGAGGAGGGGGAGGAGGAGAGGGAGAGAGA
GGAGGGGGAGGAGAAGGGGAGGAGTAGGAGGGAGAGGAGGAGGAGGGGGA
GGGAGAGGAAGGGGAGGAGTAGGAGGGAGAGGAGGAGAAAGAGGAGGGGA
GGAGAAGGAGGAGGGGAGGAGAAGGAGGAGGGGGAGAAGAAGGGGAAGAA
TAAGGGGGGAGGAGTAAGGGG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 23/46 chr19 1052625
chr19:1052625 A
A
 AGAGGAGG
others(377): Show 
AGAGGAGGAGGGGGAGGGAGAGGAGGAGGGGGAGGAGTAGGAGGTGAGCA
GAAGGGGAGGAGTAGGAGGGGGAGGAGGAGGGGGAGGGAGAGGAGGAGGA
GGGAGGGAGAGGAGGAGGGGGAGGTAGAGGAGGAGGAGGAGGGAGGAGAA
AGGGAGGAGTAGGAGGGGAGCAGAAGGGGAGGAGTAGGAGGGGGAGGAGG
AGAGGGAGAGAGAGGAGGGGGAGGAGAAGGGGAGGAGTAGGAGGGAGAGG
AGGAGGAGGGGGAGGGAGAGGAAGGGGAGGAGTAGGAGGGAGAGGAGGAG
AAAGAGGAGGGGGAGGAGAAGGAGGAGGGGAGGAGAAGGAGGAGGGGGAG
AAGAAGGGGAAGAATAAGGGGGGAGGAGTAAGGGG
 1 a0015c0018t0001g0028
a0015c0018t0001g0028
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.3220+339_3220+340i
others(386): Show 
c.3220+339_3220+340insGAGGAGGAGGGGGAGGGAGAGGAGGAGG
GGGAGGAGTAGGAGGTGAGCAGAAGGGGAGGAGTAGGAGGGGGAGGAGGA
GGGGGAGGGAGAGGAGGAGGAGGGAGGGAGAGGAGGAGGGGGAGGTAGAG
GAGGAGGAGGAGGGAGGAGAAAGGGAGGAGTAGGAGGGGAGCAGAAGGGG
AGGAGTAGGAGGGGGAGGAGGAGAGGGAGAGAGAGGAGGGGGAGGAGAAG
GGGAGGAGTAGGAGGGAGAGGAGGAGGAGGGGGAGGGAGAGGAAGGGGAG
GAGTAGGAGGGAGAGGAGGAGAAAGAGGAGGGGGAGGAGAAGGAGGAGGG
GAGGAGAAGGAGGAGGGGGAGAAGAAGGGGAAGAATAAGGGGGGAGGAGT
AAGGGG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 23/46 chr19 1052625
chr19:1052625 A
A
 AGAGGAGG
others(469): Show 
AGAGGAGGAGGGGGAGGGAGAGGAGGAGGGGGAGGAGTAGGAGGTGAGCA
GAAGGGGAGGAGTAGGAGGGGGAGGAGGAGGGGGAGGGAGAGGAGGAGGG
GGAGGGAGAGGAGGAGGGGGAGGGAGAGGAGGAGGGGAGGAGTAGGAGGT
GAGCAGAAGGGGAGGAGTAGGAGGGGGAGGAGGAGGGGGAGGGAGAGGAG
GAGGGGGAGGGAGAGGAGGAGGGGAGGTAGAGGAGGAGGAGGAGGGAGGA
GTAGGAGGGGAGCAGAAGGGGAGGAGTAGGAGGGGGAGGAGGAGAGGGAG
AGAGAGGAGGGGGAGGAGAAGGGGAGGAGTAGGAGGGAGAGGAGGAGGAG
GGGGAGGGAGAGGAAGGGGAGGAGTAGGAGGGAGAGGAGGAGAAAGAGGA
GGGGGAGGAGAAGGAGGAGGGGAGGAGAAGGAGGAGGGGGAGAAGAAGGG
GAAGAATAAGGGGGGAGGAGTAAGGGG
 1 a0010c0010t0001g0013
a0010c0010t0001g0013
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.3220+339_3220+340i
others(478): Show 
c.3220+339_3220+340insGAGGAGGAGGGGGAGGGAGAGGAGGAGG
GGGAGGAGTAGGAGGTGAGCAGAAGGGGAGGAGTAGGAGGGGGAGGAGGA
GGGGGAGGGAGAGGAGGAGGGGGAGGGAGAGGAGGAGGGGGAGGGAGAGG
AGGAGGGGAGGAGTAGGAGGTGAGCAGAAGGGGAGGAGTAGGAGGGGGAG
GAGGAGGGGGAGGGAGAGGAGGAGGGGGAGGGAGAGGAGGAGGGGAGGTA
GAGGAGGAGGAGGAGGGAGGAGTAGGAGGGGAGCAGAAGGGGAGGAGTAG
GAGGGGGAGGAGGAGAGGGAGAGAGAGGAGGGGGAGGAGAAGGGGAGGAG
TAGGAGGGAGAGGAGGAGGAGGGGGAGGGAGAGGAAGGGGAGGAGTAGGA
GGGAGAGGAGGAGAAAGAGGAGGGGGAGGAGAAGGAGGAGGGGAGGAGAA
GGAGGAGGGGGAGAAGAAGGGGAAGAATAAGGGGGGAGGAGTAAGGGG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 23/46 chr19 1052625
chr19:1052625 A
A
 AGAGGAGG
others(472): Show 
AGAGGAGGAGGGGGAGGGAGAGGAGGAGGGGGAGGAGTAGGAGGTGAGCA
GAAGGGGAGGAGTAGGAGGGGGAGGAGGAGGGGGAGGGAGAGGAGGAGGG
GGAGGGAGAGGAGGAGGGGGAGGGAGAGGAGGAGGGGGAGGAGTAGGAGG
TGAGCAGAAGGGGAGGAGTAGGAGGGGGAGGAGGAGGGGGAGGGAGAGGA
GGAGGGGGGAGGGAGAGGAGGAGGGGGAGGTAGAGGAGGAGGAGGAGGGA
GGAGTAGGAGGGGAGCAGAAGGGGAGGAGTAGGAGGGGGAGGAGGAGAGG
GAGAGAGAGGAGGGGGAGGAGAAGGGGAGGAGTAGGAGGGAGAGGAGGAG
GAGGGGGAGGGAGAGGAAGGGGAGGAGTAGGAGGGAGAGGAGGAGAAAGA
GGAGGGGGAGGAGAAGGAGGAGGGGAGGAGAAGGAGGAGGGGGAGAAGAA
GGGGAAGAATAAGGGGGGAGGAGTAAGGGG
 1 a0011c0008t0002g0014
a0011c0008t0002g0014
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.3220+339_3220+340i
others(481): Show 
c.3220+339_3220+340insGAGGAGGAGGGGGAGGGAGAGGAGGAGG
GGGAGGAGTAGGAGGTGAGCAGAAGGGGAGGAGTAGGAGGGGGAGGAGGA
GGGGGAGGGAGAGGAGGAGGGGGAGGGAGAGGAGGAGGGGGAGGGAGAGG
AGGAGGGGGAGGAGTAGGAGGTGAGCAGAAGGGGAGGAGTAGGAGGGGGA
GGAGGAGGGGGAGGGAGAGGAGGAGGGGGGAGGGAGAGGAGGAGGGGGAG
GTAGAGGAGGAGGAGGAGGGAGGAGTAGGAGGGGAGCAGAAGGGGAGGAG
TAGGAGGGGGAGGAGGAGAGGGAGAGAGAGGAGGGGGAGGAGAAGGGGAG
GAGTAGGAGGGAGAGGAGGAGGAGGGGGAGGGAGAGGAAGGGGAGGAGTA
GGAGGGAGAGGAGGAGAAAGAGGAGGGGGAGGAGAAGGAGGAGGGGAGGA
GAAGGAGGAGGGGGAGAAGAAGGGGAAGAATAAGGGGGGAGGAGTAAGGG
G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 23/46 chr19 1052625
chr19:1052625 A
A
 AGAGGAGG
others(375): Show 
AGAGGAGGAGGGGGAGGGAGAGGAGGAGGGGGAGGAGTAGGAGGTGAGCA
GAAGGGGAGGAGTAGGAGGGGGAGGAGGAGGGGGAGGGAGAGGAGGAGGG
GGAGGGAGAGGAGGAGGGGGAGGTAGAGGAGGAGGAGGAGGGAGGAGAAA
GGGAGGAGTAGGAGGGGAGCAGAAGGGGAGGAGTAGGAGGGGGAGGAGGA
GAGGGAGAGAGAGGAGGGGGAGGAGAAGGGGAGGAGTAGGAGGGAGAGGA
GGAGGAGGGGGAGGGAGAGGAAGGGGAGGAGTAGGAGGGAGAGGAGGAGA
AAGAGGAGGGGGAGGAGAAGGAGGAGGGGAGGAGAAGGAGGAGGGGGAGA
AGAAGAGGAAGAATAAGGGGGAGGAGTAAGGGG
 1 a0001c0001t0003g0018
a0001c0001t0003g0018
 1 NA19079.hp1
NA19079.hp1
 intron_variant MODIFIER c.3220+339_3220+340i
others(384): Show 
c.3220+339_3220+340insGAGGAGGAGGGGGAGGGAGAGGAGGAGG
GGGAGGAGTAGGAGGTGAGCAGAAGGGGAGGAGTAGGAGGGGGAGGAGGA
GGGGGAGGGAGAGGAGGAGGGGGAGGGAGAGGAGGAGGGGGAGGTAGAGG
AGGAGGAGGAGGGAGGAGAAAGGGAGGAGTAGGAGGGGAGCAGAAGGGGA
GGAGTAGGAGGGGGAGGAGGAGAGGGAGAGAGAGGAGGGGGAGGAGAAGG
GGAGGAGTAGGAGGGAGAGGAGGAGGAGGGGGAGGGAGAGGAAGGGGAGG
AGTAGGAGGGAGAGGAGGAGAAAGAGGAGGGGGAGGAGAAGGAGGAGGGG
AGGAGAAGGAGGAGGGGGAGAAGAAGAGGAAGAATAAGGGGGAGGAGTAA
GGGG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 23/46 chr19 1052625
chr19:1052625 A
A
 AGAGGAGG
others(376): Show 
AGAGGAGGAGGGGGAGGGAGAGGAGGAGGGGGAGGAGTAGGAGGTGAGCA
GAAGGGGAGGAGTAGGAGGGGGAGGAGGAGGGGGAGGGAGAGGAGGAGGG
GGAGGGAGAGGAGGAGGGGGAGGTAGAGGAGGAGGAGGAGGGAGGAGAAA
GGGAGGAGTAGGAGGGGAGCAGAAGGGGAGGAGTAGGAGGGGGAGGAGGA
GAGGGAGAGAGAGGAGGGGGAGGAGAAGGGGAGGAGTAGGAGGGAGAGGA
GGAGGAGGGGGAGGGAGAGGAAGGGGAGGAGTAGGAGGGAGAGGAGGAGA
AAGAGGAGGGGGAGGAGAAGGAGGAGGGGAGGAGAAGGAGGAGGGGGAGA
AGAAGAGGAAGAATAAGGGGGGAGGAGTAAGGGG
 3 a0001c0001t0003g0015
a0001c0001t0003g0017
a0001c0001t0003g0019
a0001c0001t0003g0015
a0001c0001t0003g0017
a0001c0001t0003g0019
 3 HG01071.hp1
HG02071.hp2
NA19066.hp2
HG01071.hp1
HG02071.hp2
NA19066.hp2
 intron_variant MODIFIER c.3220+339_3220+340i
others(385): Show 
c.3220+339_3220+340insGAGGAGGAGGGGGAGGGAGAGGAGGAGG
GGGAGGAGTAGGAGGTGAGCAGAAGGGGAGGAGTAGGAGGGGGAGGAGGA
GGGGGAGGGAGAGGAGGAGGGGGAGGGAGAGGAGGAGGGGGAGGTAGAGG
AGGAGGAGGAGGGAGGAGAAAGGGAGGAGTAGGAGGGGAGCAGAAGGGGA
GGAGTAGGAGGGGGAGGAGGAGAGGGAGAGAGAGGAGGGGGAGGAGAAGG
GGAGGAGTAGGAGGGAGAGGAGGAGGAGGGGGAGGGAGAGGAAGGGGAGG
AGTAGGAGGGAGAGGAGGAGAAAGAGGAGGGGGAGGAGAAGGAGGAGGGG
AGGAGAAGGAGGAGGGGGAGAAGAAGAGGAAGAATAAGGGGGGAGGAGTA
AGGGG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 23/46 chr19 1052625
chr19:1052625 A
A
 AGAGGAGG
others(376): Show 
AGAGGAGGAGGGGGAGGGAGAGGAGGAGGGGGAGGAGTAGGAGGTGAGCA
GAAGGGGAGGAGTAGGAGGGGGAGGAGGAGGGGGAGGGAGAGGAGGAGGG
GGAGGGAGAGGAGGAGGGGGAGGTAGAGGAGGAGGAGGAGGGAGGAGAAA
GGGAGGAGTAGGAGGGGAGCAGAAGGGGAGGAGTAGGAGGGGGAGGAGGA
GAGGGAGAGAGAGGAGGGGGAGGAGAAGGGGAGGAGTAGGAGGGAGAGGA
GGAGGAGGGGGAGGGAGAGGAAGGGGAGGAGTAGGAGGGAGAGGAGGAGA
AAGAGGAGGGGGAGGAGAAGGAGGAGGGGAGGAGAAGGAGGAGGGGGAGA
AGAAGGGGAAGAATAAGGGGGGAGGAGTAAGGGG
 1 a0019c0012t0001g0026
a0019c0012t0001g0026
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.3220+339_3220+340i
others(385): Show 
c.3220+339_3220+340insGAGGAGGAGGGGGAGGGAGAGGAGGAGG
GGGAGGAGTAGGAGGTGAGCAGAAGGGGAGGAGTAGGAGGGGGAGGAGGA
GGGGGAGGGAGAGGAGGAGGGGGAGGGAGAGGAGGAGGGGGAGGTAGAGG
AGGAGGAGGAGGGAGGAGAAAGGGAGGAGTAGGAGGGGAGCAGAAGGGGA
GGAGTAGGAGGGGGAGGAGGAGAGGGAGAGAGAGGAGGGGGAGGAGAAGG
GGAGGAGTAGGAGGGAGAGGAGGAGGAGGGGGAGGGAGAGGAAGGGGAGG
AGTAGGAGGGAGAGGAGGAGAAAGAGGAGGGGGAGGAGAAGGAGGAGGGG
AGGAGAAGGAGGAGGGGGAGAAGAAGGGGAAGAATAAGGGGGGAGGAGTA
AGGGG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 23/46 chr19 1052625
chr19:1052625 A
A
 AGAGGAGG
others(376): Show 
AGAGGAGGAGGGGGAGGGAGAGGAGGAGGGGGAGGAGTAGGAGGTGAGCA
GAAGGGGAGGAGTAGGAGGGGGAGGAGGAGGGGGAGGGAGAGGAGGAGGG
GGAGGGAGAGGAGGAGGGGGAGGTAGAGGAGGAGGAGGAGGGAGGAGAAA
GGGAGGAGTAGGAGGGGAGCAGAAGGGGAGGAGTAGGAGGGGGAGGAGGA
GAGGGAGAGAGAGGAGGGGGAGGAGAAGGGGAGGAGTAGGAGGGAGAGGA
GGAGGAGGGGGAGGGAGAGGAAGGGGAGGAGTAGGAGGGAGAGGAGGAGA
AAGAGGAGGGGGAGGAGAAGGAGGAGGGGAGGAGGAGGAGGAGGGGGAGA
AGAAGAGGAAGAATAAGGGGGGAGGAGTAAGGGG
 1 a0001c0001t0003g0016
a0001c0001t0003g0016
 1 HG00673.hp2
HG00673.hp2
 intron_variant MODIFIER c.3220+339_3220+340i
others(385): Show 
c.3220+339_3220+340insGAGGAGGAGGGGGAGGGAGAGGAGGAGG
GGGAGGAGTAGGAGGTGAGCAGAAGGGGAGGAGTAGGAGGGGGAGGAGGA
GGGGGAGGGAGAGGAGGAGGGGGAGGGAGAGGAGGAGGGGGAGGTAGAGG
AGGAGGAGGAGGGAGGAGAAAGGGAGGAGTAGGAGGGGAGCAGAAGGGGA
GGAGTAGGAGGGGGAGGAGGAGAGGGAGAGAGAGGAGGGGGAGGAGAAGG
GGAGGAGTAGGAGGGAGAGGAGGAGGAGGGGGAGGGAGAGGAAGGGGAGG
AGTAGGAGGGAGAGGAGGAGAAAGAGGAGGGGGAGGAGAAGGAGGAGGGG
AGGAGGAGGAGGAGGGGGAGAAGAAGAGGAAGAATAAGGGGGGAGGAGTA
AGGGG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 23/46 chr19 1052625
chr19:1052625 A
A
 AGAGGAGG
others(365): Show 
AGAGGAGGAGGGGGAGGGAGAGGAGGAGGGGGAGGAGTAGGAGGTGAGCA
GAAGGGGAGGAGTAGGAGGGGGAGGAGGAGGGGGAGGGAGAGGAGGAGGG
GGAGGGAGAGGAGGAGGGGGAGGTAGAGGAGGAGGAGGAGGGAGGAGTAG
GAGGGGAGCAGAAGGGGAGGAGTAGGAGGGGGAGGAGGAGAGGGAGAGAG
AGGAGGGGGAGGAGAAGGGGAGGAGTAGGAGGGAGAGGAGGAGGAGGGGG
AGGGAGAGGAAGGGGAGGAGTAGGAGGGAGAGGAGGAGAAAGAGGAGGGG
GAGGAGAAGGAGGAGGGGAGGAGAAGGAGGAGGGGGAGAAGAAGGGGAAG
AATAAGGGGGGAGGAGTAAGGGG
 1 a0002c0003t0001g0007
a0002c0003t0001g0007
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.3220+339_3220+340i
others(374): Show 
c.3220+339_3220+340insGAGGAGGAGGGGGAGGGAGAGGAGGAGG
GGGAGGAGTAGGAGGTGAGCAGAAGGGGAGGAGTAGGAGGGGGAGGAGGA
GGGGGAGGGAGAGGAGGAGGGGGAGGGAGAGGAGGAGGGGGAGGTAGAGG
AGGAGGAGGAGGGAGGAGTAGGAGGGGAGCAGAAGGGGAGGAGTAGGAGG
GGGAGGAGGAGAGGGAGAGAGAGGAGGGGGAGGAGAAGGGGAGGAGTAGG
AGGGAGAGGAGGAGGAGGGGGAGGGAGAGGAAGGGGAGGAGTAGGAGGGA
GAGGAGGAGAAAGAGGAGGGGGAGGAGAAGGAGGAGGGGAGGAGAAGGAG
GAGGGGGAGAAGAAGGGGAAGAATAAGGGGGGAGGAGTAAGGGG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 23/46 chr19 1052625
chr19:1052625 A
A
 AGAGGAGG
others(348): Show 
AGAGGAGGAGGGGGAGGGAGAGGAGGAGGGGGAGGAGTAGGAGGTGAGCA
GAAGGGGAGGAGTAGGAGGGGGAGGAGGAGGGGGAGGGAGAGGAGGAGGG
GGAGGTAGAGGAGGAGGAGGAGGGAGGAGTAGGAGGGGAGCAGAAGGGGA
GGAGTAGGAGGGGGAGGAGGAGAGGGAGAGAGAGGAGGGGGAGGAGAAGG
GGGAGGAGTAGGAGGGAGAGGAGGAGGAGGGGGAGGGAGAGGAAGGGGAG
GAGTAGGAGGGAGAGGAGGAGAAAGAGGAGGGGGAGGAGAAGGAGGAGGG
GAGGAGAAGGAGGAGGGGGAGAAGAAGGGGAAGAATAAGGGGGGAGGAGT
AAGGGG
 1 a0001c0002t0002g0011
a0001c0002t0002g0011
 1 NA18970.hp2
NA18970.hp2
 intron_variant MODIFIER c.3220+339_3220+340i
others(357): Show 
c.3220+339_3220+340insGAGGAGGAGGGGGAGGGAGAGGAGGAGG
GGGAGGAGTAGGAGGTGAGCAGAAGGGGAGGAGTAGGAGGGGGAGGAGGA
GGGGGAGGGAGAGGAGGAGGGGGAGGTAGAGGAGGAGGAGGAGGGAGGAG
TAGGAGGGGAGCAGAAGGGGAGGAGTAGGAGGGGGAGGAGGAGAGGGAGA
GAGAGGAGGGGGAGGAGAAGGGGGAGGAGTAGGAGGGAGAGGAGGAGGAG
GGGGAGGGAGAGGAAGGGGAGGAGTAGGAGGGAGAGGAGGAGAAAGAGGA
GGGGGAGGAGAAGGAGGAGGGGAGGAGAAGGAGGAGGGGGAGAAGAAGGG
GAAGAATAAGGGGGGAGGAGTAAGGGG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 23/46 chr19 1052625
chr19:1052625 A
A
 AGAGGAGG
others(375): Show 
AGAGGAGGAGGGGGAGGGAGAGGAGGAGGGGGAGGAGTAGGAGGTGAGCA
GAAGGGGAGGAGTAGGAGGGGGAGGAGGAGGGGGAGGGAGAGGAGGAGGG
GGAGGTAGAGGAGGAGGGGGAGGTAGAGGAGGAGGAGGAGGGAGGAGAAA
GGGAGGAGTAGGAGGGGAGCAGAAGGGGAGGAGTAGGAGGGGGAGGAGGA
GAGGGAGAGAGAGGAGGGGGAGGAGAAGGGGAGGAGTAGGAGGGAGAGGA
GGAGGAGGGGGAGGGAGAGGAAGGGGAGGAGTAGGAGGGAGAGGAGGAGA
AAGAGGAGGGGGAGGAGAAGGAGGAGGGGAGGAGAAGGAGGAGGGGAGAA
GAAGGGGAAGAATAAGGGGGGAGGAGTAAGGGG
 1 a0007c0021t0001g0001
a0007c0021t0001g0001
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.3220+339_3220+340i
others(384): Show 
c.3220+339_3220+340insGAGGAGGAGGGGGAGGGAGAGGAGGAGG
GGGAGGAGTAGGAGGTGAGCAGAAGGGGAGGAGTAGGAGGGGGAGGAGGA
GGGGGAGGGAGAGGAGGAGGGGGAGGTAGAGGAGGAGGGGGAGGTAGAGG
AGGAGGAGGAGGGAGGAGAAAGGGAGGAGTAGGAGGGGAGCAGAAGGGGA
GGAGTAGGAGGGGGAGGAGGAGAGGGAGAGAGAGGAGGGGGAGGAGAAGG
GGAGGAGTAGGAGGGAGAGGAGGAGGAGGGGGAGGGAGAGGAAGGGGAGG
AGTAGGAGGGAGAGGAGGAGAAAGAGGAGGGGGAGGAGAAGGAGGAGGGG
AGGAGAAGGAGGAGGGGAGAAGAAGGGGAAGAATAAGGGGGGAGGAGTAA
GGGG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 23/46 chr19 1052625
chr19:1052625 A
A
 AGAGGAGG
others(376): Show 
AGAGGAGGAGGGGGAGGGAGAGGAGGAGGGGGAGGAGTAGGAGGTGAGCA
GAAGGGGAGGAGTAGGAGGGGGAGGAGGAGGGGGAGGGAGAGGAGGAGGG
GGAGGTAGAGGAGGAGGGGGAGGTAGAGGAGGAGGAGGAGGGAGGAGAAA
GGGAGGAGTAGGAGGGGAGCAGAAGGGGAGGAGTAGGAGGGGGAGGAGGA
GAGGGAGAGAGAGGAGGGGGAGGAGAAGGGGAGGAGTAGGAGGGAGAGGA
GGAGGAGGGGGAGGGAGAGGAAGGGGAGGAGTAGGAGGGAGAGGAGGAGA
AAGAGGAGGGGGAGGAGAAGGAGGAGGGGAGGAGAAGGAGGAGGGGGAGA
AGAAGGGGAAGAATAAGGGGGGAGGAGTAAGGGG
 3 a0003c0005t0002g0003
a0005c0022t0001g0004
a0006c0020t0002g0020
a0003c0005t0002g0003
a0005c0022t0001g0004
a0006c0020t0002g0020
 3 HG02451.hp2
HG02970.hp1
HG02970.hp2
HG02451.hp2
HG02970.hp1
HG02970.hp2
 intron_variant MODIFIER c.3220+339_3220+340i
others(385): Show 
c.3220+339_3220+340insGAGGAGGAGGGGGAGGGAGAGGAGGAGG
GGGAGGAGTAGGAGGTGAGCAGAAGGGGAGGAGTAGGAGGGGGAGGAGGA
GGGGGAGGGAGAGGAGGAGGGGGAGGTAGAGGAGGAGGGGGAGGTAGAGG
AGGAGGAGGAGGGAGGAGAAAGGGAGGAGTAGGAGGGGAGCAGAAGGGGA
GGAGTAGGAGGGGGAGGAGGAGAGGGAGAGAGAGGAGGGGGAGGAGAAGG
GGAGGAGTAGGAGGGAGAGGAGGAGGAGGGGGAGGGAGAGGAAGGGGAGG
AGTAGGAGGGAGAGGAGGAGAAAGAGGAGGGGGAGGAGAAGGAGGAGGGG
AGGAGAAGGAGGAGGGGGAGAAGAAGGGGAAGAATAAGGGGGGAGGAGTA
AGGGG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 23/46 chr19 1052625
chr19:1052625 A
A
 AGAGGAGG
others(380): Show 
AGAGGAGGAGGGGGAGGGAGAGGAGGAGGGGGAGGAGTAGGAGGTGAGCA
GAAGGGGAGGAGTAGGAGGGGGAGGAGGAGGGGGAGGGAGAGGAGGAGGG
GGAGGTAGAGGAGGAGGGGGGGAGGTAGAGGAGGAGGAGGAGGGAGGAGA
AAGGGAGGAGTAGGAGGGGAGCAGAAGGGGAGGAGTAGGAGGGGGAGGAG
GAGAGGGAGAGAGAGGAGGGGGAGGAGAAGGGGAGGAGTAGGAGGGAGAG
GAGGAGGAGGGGGAGGGAGAGGAAGGGGAGGAGTAGGAGGGAGAGGAGGA
GAAAGAGGAGGGGGGAGGAGAAGGAGGAGGGGAGGAGAAGGAGGAGGGGG
AGAAGAAGGGGAAGAATAAGGGGGGAGGAGTAAGGGGG
 1 a0003c0005t0002g0002
a0003c0005t0002g0002
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.3220+339_3220+340i
others(389): Show 
c.3220+339_3220+340insGAGGAGGAGGGGGAGGGAGAGGAGGAGG
GGGAGGAGTAGGAGGTGAGCAGAAGGGGAGGAGTAGGAGGGGGAGGAGGA
GGGGGAGGGAGAGGAGGAGGGGGAGGTAGAGGAGGAGGGGGGGAGGTAGA
GGAGGAGGAGGAGGGAGGAGAAAGGGAGGAGTAGGAGGGGAGCAGAAGGG
GAGGAGTAGGAGGGGGAGGAGGAGAGGGAGAGAGAGGAGGGGGAGGAGAA
GGGGAGGAGTAGGAGGGAGAGGAGGAGGAGGGGGAGGGAGAGGAAGGGGA
GGAGTAGGAGGGAGAGGAGGAGAAAGAGGAGGGGGGAGGAGAAGGAGGAG
GGGAGGAGAAGGAGGAGGGGGAGAAGAAGGGGAAGAATAAGGGGGGAGGA
GTAAGGGGG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 23/46 chr19 1052625
chr19:1052625 A
A
 AGAGGAGG
others(366): Show 
AGAGGAGGAGGGGGAGGGAGAGGAGGAGGGGGAGGAGTAGGAGGTGAGCA
GAAGGGGAGGAGTAGGAGGGGGAGGAGGGAGGGGGAGGGAGAGGAGGAGG
GGGAGGGAGAGGAGGAGGGGGAGGTAGAGGAGGAGGAGGAGGGAGGAGTA
GGAGGGGAGCAGAAGGGGAGGAGTAGGAGGGGGAGGAGGAGAGGGAGAGA
GAGGAGGGGGAGGAGAAGGGGAGGAGTAGGAGGGAGAGGAGGAGGAGGGG
GAGGGAGAGGAAGGGGAGGAGTAGGAGGGAGAGGAGGAGAAAGAGGAGGG
GGAGGAGAAGGAGGAGGGGAGGAGAAGGAGGAGGGGGAGAAGAAGGGGAA
GAATAAGGGGGGAGGAGTAAGGGG
 1 a0013c0013t0002g0030
a0013c0013t0002g0030
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.3220+339_3220+340i
others(375): Show 
c.3220+339_3220+340insGAGGAGGAGGGGGAGGGAGAGGAGGAGG
GGGAGGAGTAGGAGGTGAGCAGAAGGGGAGGAGTAGGAGGGGGAGGAGGG
AGGGGGAGGGAGAGGAGGAGGGGGAGGGAGAGGAGGAGGGGGAGGTAGAG
GAGGAGGAGGAGGGAGGAGTAGGAGGGGAGCAGAAGGGGAGGAGTAGGAG
GGGGAGGAGGAGAGGGAGAGAGAGGAGGGGGAGGAGAAGGGGAGGAGTAG
GAGGGAGAGGAGGAGGAGGGGGAGGGAGAGGAAGGGGAGGAGTAGGAGGG
AGAGGAGGAGAAAGAGGAGGGGGAGGAGAAGGAGGAGGGGAGGAGAAGGA
GGAGGGGGAGAAGAAGGGGAAGAATAAGGGGGGAGGAGTAAGGGG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 23/46 chr19 1052625
chr19:1052625 A
A
 AGAGGAGG
others(270): Show 
AGAGGAGGAGGGGGAGGTAGAGGAGGAGGAGGAGGGAGGAGAAAGGGAGG
AGTAGGAGGGGAGCAGAAGGGGAGGAGTAGGAGGGGGAGGAGGAGAGGGA
GAGAGAGGAGGGGGAGGAGAAGGGGAGGAGTAGGAGGGAGAGGAGGAGGA
GGGGGAGGGAGAGGAAGGGGAGGAGTAGGAGGGAGAGGAGGAGAAAGAGG
AGGGGGAGGAGAAGGAGGAGGGGAGGAGAAGGAGGAGGGGGAGAAGAAGG
GGAAGAATAAGGGGGGAGGAGTAAGGGG
 3 a0008c0006t0002g0006
a0009c0007t0002g0005
a0016c0014t0002g0025
a0008c0006t0002g0006
a0009c0007t0002g0005
a0016c0014t0002g0025
 3 NA18983.hp2
NA19066.hp1
NA19079.hp2
NA18983.hp2
NA19066.hp1
NA19079.hp2
 intron_variant MODIFIER c.3220+339_3220+340i
others(279): Show 
c.3220+339_3220+340insGAGGAGGAGGGGGAGGTAGAGGAGGAGG
AGGAGGGAGGAGAAAGGGAGGAGTAGGAGGGGAGCAGAAGGGGAGGAGTA
GGAGGGGGAGGAGGAGAGGGAGAGAGAGGAGGGGGAGGAGAAGGGGAGGA
GTAGGAGGGAGAGGAGGAGGAGGGGGAGGGAGAGGAAGGGGAGGAGTAGG
AGGGAGAGGAGGAGAAAGAGGAGGGGGAGGAGAAGGAGGAGGGGAGGAGA
AGGAGGAGGGGGAGAAGAAGGGGAAGAATAAGGGGGGAGGAGTAAGGGG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 23/46 chr19 1052625
chr19:1052625 A
A
 AGAGGAGG
others(371): Show 
AGAGGAGGAGGGGGGAGGAGTAGGAGGTGAGCAGAAGGGGAGGAGTAGGA
GGGGGAGGAGGAGGGGAGGGAGAGGGGGAGGGAGAGGAGGAGGGGAGAGG
AGAGGAGGAGGGAGGAGGTAGGAGGGAGGAGAGGGGAGGAGTAGGAGGGG
GAGGAGAGAGGGGAGGAGTAGGAGGGGGAGGAGGAGGAGGGAGGAGAGAG
GAGGAGAGGGGAGGAGAAGGGGAGGGAGAGAGGGAGAGTAGAGGAGGAGG
AGGAGGGAGAGGAGAGAGGGAGGAGTAGGAGGGAGAGGAGGAGAAAGAGG
AGGGGGAGGAGAAGGAGGAGGGGAGGAGAAGGAGGAGGGGGAGAAGAAGG
GGAAGAATAAGGGGGGAGGAGTAAGGGGG
 1 a0002c0009t0001g0008
a0002c0009t0001g0008
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.3220+339_3220+340i
others(380): Show 
c.3220+339_3220+340insGAGGAGGAGGGGGGAGGAGTAGGAGGTG
AGCAGAAGGGGAGGAGTAGGAGGGGGAGGAGGAGGGGAGGGAGAGGGGGA
GGGAGAGGAGGAGGGGAGAGGAGAGGAGGAGGGAGGAGGTAGGAGGGAGG
AGAGGGGAGGAGTAGGAGGGGGAGGAGAGAGGGGAGGAGTAGGAGGGGGA
GGAGGAGGAGGGAGGAGAGAGGAGGAGAGGGGAGGAGAAGGGGAGGGAGA
GAGGGAGAGTAGAGGAGGAGGAGGAGGGAGAGGAGAGAGGGAGGAGTAGG
AGGGAGAGGAGGAGAAAGAGGAGGGGGAGGAGAAGGAGGAGGGGAGGAGA
AGGAGGAGGGGGAGAAGAAGGGGAAGAATAAGGGGGGAGGAGTAAGGGGG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 23/46 chr19 1052625
chr19:1052625 A
A
 G
G
 2 a0002c0003t0001g0009
a0014c0019t0002g0029
a0002c0003t0001g0009
a0014c0019t0002g0029
 2 HG02071.hp1
NA20805.hp2
HG02071.hp1
NA20805.hp2
 intron_variant MODIFIER c.3220+339A>G
c.3220+339A>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 23/46 chr19 1052625
chr19:1052626 A
A
 G
G
 28 a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0017
others(25): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0017
a0001c0001t0003g0018
a0001c0001t0003g0019
a0001c0002t0002g0011
a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0011t0001g0012
a0003c0005t0002g0002
a0003c0005t0002g0003
a0004c0004t0001g0021
a0004c0004t0001g0023
a0005c0022t0001g0004
a0006c0020t0002g0020
a0007c0021t0001g0001
a0008c0006t0002g0006
a0009c0007t0002g0005
a0010c0010t0001g0013
a0011c0008t0002g0014
a0012c0016t0001g0024
a0013c0013t0002g0030
a0014c0019t0002g0029
a0015c0018t0001g0028
a0016c0014t0002g0025
a0017c0017t0001g0027
a0018c0015t0001g0022
a0019c0012t0001g0026
 28 HG00673.hp1
HG00673.hp2
HG01071.hp1
others(25): Show 
HG00673.hp1
HG00673.hp2
HG01071.hp1
HG01071.hp2
HG02071.hp1
HG02071.hp2
HG02145.hp1
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02723.hp1
HG02723.hp2
HG02970.hp1
HG02970.hp2
HG03688.hp1
HG03688.hp2
NA18970.hp1
NA18970.hp2
NA18983.hp1
NA18983.hp2
NA19066.hp1
NA19066.hp2
NA19079.hp1
NA19079.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3220+340A>G
c.3220+340A>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 23/46 chr19 1052626
chr19:1052627 A
A
 G
G
 1 a0002c0009t0001g0008
a0002c0009t0001g0008
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.3220+341A>G
c.3220+341A>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 23/46 chr19 1052627
chr19:1052657 A
A
 G
G
 28 a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0017
others(25): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0017
a0001c0001t0003g0018
a0001c0001t0003g0019
a0001c0002t0002g0011
a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
a0002c0011t0001g0012
a0003c0005t0002g0002
a0003c0005t0002g0003
a0004c0004t0001g0021
a0004c0004t0001g0023
a0005c0022t0001g0004
a0006c0020t0002g0020
a0007c0021t0001g0001
a0008c0006t0002g0006
a0009c0007t0002g0005
a0010c0010t0001g0013
a0011c0008t0002g0014
a0012c0016t0001g0024
a0013c0013t0002g0030
a0015c0018t0001g0028
a0016c0014t0002g0025
a0017c0017t0001g0027
a0018c0015t0001g0022
a0019c0012t0001g0026
 28 HG00673.hp1
HG00673.hp2
HG01071.hp1
others(25): Show 
HG00673.hp1
HG00673.hp2
HG01071.hp1
HG01071.hp2
HG02071.hp2
HG02145.hp1
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02723.hp1
HG02723.hp2
HG02970.hp1
HG02970.hp2
HG03688.hp1
HG03688.hp2
NA18970.hp1
NA18970.hp2
NA18983.hp1
NA18983.hp2
NA19066.hp1
NA19066.hp2
NA19079.hp1
NA19079.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3220+371A>G
c.3220+371A>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 23/46 chr19 1052657
chr19:1052690 A
A
 AG
AG
 2 a0003c0005t0002g0002
a0014c0019t0002g0029
a0003c0005t0002g0002
a0014c0019t0002g0029
 2 HG02071.hp1
HG02145.hp2
HG02071.hp1
HG02145.hp2
 intron_variant MODIFIER c.3220+407dupG
c.3220+407dupG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 23/46 INFO_REALIGN_3_PRIME chr19 1052690
chr19:1052720 A
A
 G
G
 1 a0001c0002t0002g0011
a0001c0002t0002g0011
 1 NA18970.hp2
NA18970.hp2
 intron_variant MODIFIER c.3220+434A>G
c.3220+434A>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 23/46 chr19 1052720
chr19:1052721 G
G
 A
A
 1 a0001c0002t0002g0011
a0001c0002t0002g0011
 1 NA18970.hp2
NA18970.hp2
 intron_variant MODIFIER c.3220+435G>A
c.3220+435G>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 23/46 chr19 1052721
chr19:1052787 G
G
 A
A
 1 a0006c0020t0002g0020
a0006c0020t0002g0020
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.3220+501G>A
c.3220+501G>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 23/46 chr19 1052787
chr19:1052826 A
A
 C
C
 1 a0001c0002t0002g0011
a0001c0002t0002g0011
 1 NA18970.hp2
NA18970.hp2
 intron_variant MODIFIER c.3221-503A>C
c.3221-503A>C
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 23/46 chr19 1052826
chr19:1052860 C
C
 T
T
 3 a0006c0020t0002g0020
a0010c0010t0001g0013
a0011c0008t0002g0014
a0006c0020t0002g0020
a0010c0010t0001g0013
a0011c0008t0002g0014
 3 HG02723.hp1
HG02723.hp2
HG02970.hp2
HG02723.hp1
HG02723.hp2
HG02970.hp2
 intron_variant MODIFIER c.3221-469C>T
c.3221-469C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 23/46 chr19 1052860
chr19:1052885 C
C
 T
T
 1 a0013c0013t0002g0030
a0013c0013t0002g0030
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.3221-444C>T
c.3221-444C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 23/46 chr19 1052885
chr19:1053142 C
C
 G
G
 1 a0005c0022t0001g0004
a0005c0022t0001g0004
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.3221-187C>G
c.3221-187C>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 23/46 chr19 1053142
chr19:1053170 G
G
 T
T
 1 a0003c0005t0002g0002
a0003c0005t0002g0002
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.3221-159G>T
c.3221-159G>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 23/46 chr19 1053170
chr19:1053300 C
C
 T
T
 10 a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
others(7): Show 
a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
a0002c0011t0001g0012
a0004c0004t0001g0021
a0004c0004t0001g0023
a0011c0008t0002g0014
a0012c0016t0001g0024
a0013c0013t0002g0030
a0018c0015t0001g0022
 10 HG00673.hp1
HG02145.hp1
HG02723.hp2
others(7): Show 
HG00673.hp1
HG02145.hp1
HG02723.hp2
NA18970.hp1
NA18983.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3221-29C>T
c.3221-29C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 23/46 chr19 1053300
chr19:1053576 T
T
 G
G
 2 a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0003t0001g0007
a0002c0003t0001g0009
 2 NA20805.hp2
NA20905.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.3423+45T>G
c.3423+45T>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 24/46 chr19 1053576
chr19:1053588 TG
TG
 T
T
 2 a0002c0003t0001g0009
a0003c0005t0002g0002
a0002c0003t0001g0009
a0003c0005t0002g0002
 2 HG02145.hp2
NA20805.hp2
HG02145.hp2
NA20805.hp2
 intron_variant MODIFIER c.3423+59delG
c.3423+59delG
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 24/46 INFO_REALIGN_3_PRIME chr19 1053588
chr19:1053678 G
G
 A
A
 9 a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
others(6): Show 
a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
a0002c0011t0001g0012
a0004c0004t0001g0021
a0004c0004t0001g0023
a0012c0016t0001g0024
a0013c0013t0002g0030
a0018c0015t0001g0022
 9 HG00673.hp1
HG02145.hp1
NA18970.hp1
others(6): Show 
HG00673.hp1
HG02145.hp1
NA18970.hp1
NA18983.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3424-110G>A
c.3424-110G>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 24/46 chr19 1053678
chr19:1053840 C
C
 T
T
 2 a0005c0022t0001g0004
a0010c0010t0001g0013
a0005c0022t0001g0004
a0010c0010t0001g0013
 2 HG02451.hp2
HG02723.hp1
HG02451.hp2
HG02723.hp1
 splice_region_variant&intron_variant LOW c.3472+4C>T
c.3472+4C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 25/46 chr19 1053840
chr19:1053934 A
A
 C
C
 1 a0014c0019t0002g0029
a0014c0019t0002g0029
 1 HG02071.hp1
HG02071.hp1
 intron_variant MODIFIER c.3473-72A>C
c.3473-72A>C
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 25/46 chr19 1053934
chr19:1054400 G
G
 A
A
 2 a0003c0005t0002g0002
a0003c0005t0002g0003
a0003c0005t0002g0002
a0003c0005t0002g0003
 2 HG02145.hp2
HG02970.hp1
HG02145.hp2
HG02970.hp1
 intron_variant MODIFIER c.3726+59G>A
c.3726+59G>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 27/46 chr19 1054400
chr19:1055499 C
C
 CT
CT
 8 a0001c0001t0003g0017
a0003c0005t0002g0002
a0003c0005t0002g0003
others(5): Show 
a0001c0001t0003g0017
a0003c0005t0002g0002
a0003c0005t0002g0003
a0006c0020t0002g0020
a0014c0019t0002g0029
a0015c0018t0001g0028
a0017c0017t0001g0027
a0019c0012t0001g0026
 8 HG01071.hp2
HG02071.hp1
HG02071.hp2
others(5): Show 
HG01071.hp2
HG02071.hp1
HG02071.hp2
HG02145.hp2
HG02970.hp1
HG02970.hp2
HG03688.hp1
HG03688.hp2
 intron_variant MODIFIER c.4205+169dupT
c.4205+169dupT
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 30/46 INFO_REALIGN_3_PRIME chr19 1055499
chr19:1055499 C
C
 CTT
CTT
 3 a0005c0022t0001g0004
a0010c0010t0001g0013
a0011c0008t0002g0014
a0005c0022t0001g0004
a0010c0010t0001g0013
a0011c0008t0002g0014
 3 HG02451.hp2
HG02723.hp1
HG02723.hp2
HG02451.hp2
HG02723.hp1
HG02723.hp2
 intron_variant MODIFIER c.4205+168_4205+169d
others(4): Show 
c.4205+168_4205+169dupTT
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 30/46 INFO_REALIGN_3_PRIME chr19 1055499
chr19:1055499 CT
CT
 C
C
 9 a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
others(6): Show 
a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
a0002c0011t0001g0012
a0004c0004t0001g0021
a0004c0004t0001g0023
a0007c0021t0001g0001
a0012c0016t0001g0024
a0018c0015t0001g0022
 9 HG00673.hp1
HG02145.hp1
HG02451.hp1
others(6): Show 
HG00673.hp1
HG02145.hp1
HG02451.hp1
NA18970.hp1
NA18983.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4205+169delT
c.4205+169delT
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 30/46 INFO_REALIGN_3_PRIME chr19 1055499
chr19:1055561 G
G
 A
A
 1 a0014c0019t0002g0029
a0014c0019t0002g0029
 1 HG02071.hp1
HG02071.hp1
 intron_variant MODIFIER c.4205+210G>A
c.4205+210G>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 30/46 chr19 1055561
chr19:1055605 C
C
 T
T
 10 a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
others(7): Show 
a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
a0002c0011t0001g0012
a0004c0004t0001g0021
a0004c0004t0001g0023
a0007c0021t0001g0001
a0012c0016t0001g0024
a0013c0013t0002g0030
a0018c0015t0001g0022
 10 HG00673.hp1
HG02145.hp1
HG02451.hp1
others(7): Show 
HG00673.hp1
HG02145.hp1
HG02451.hp1
NA18970.hp1
NA18983.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4205+254C>T
c.4205+254C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 30/46 chr19 1055605
chr19:1055643 C
C
 T
T
 2 a0005c0022t0001g0004
a0010c0010t0001g0013
a0005c0022t0001g0004
a0010c0010t0001g0013
 2 HG02451.hp2
HG02723.hp1
HG02451.hp2
HG02723.hp1
 intron_variant MODIFIER c.4206-264C>T
c.4206-264C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 30/46 chr19 1055643
chr19:1055719 C
C
 T
T
 2 a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0003t0001g0007
a0002c0003t0001g0009
 2 NA20805.hp2
NA20905.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.4206-188C>T
c.4206-188C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 30/46 chr19 1055719
chr19:1055791 C
C
 T
T
 1 a0011c0008t0002g0014
a0011c0008t0002g0014
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.4206-116C>T
c.4206-116C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 30/46 chr19 1055791
chr19:1055793 C
C
 T
T
 2 a0006c0020t0002g0020
a0011c0008t0002g0014
a0006c0020t0002g0020
a0011c0008t0002g0014
 2 HG02723.hp2
HG02970.hp2
HG02723.hp2
HG02970.hp2
 intron_variant MODIFIER c.4206-114C>T
c.4206-114C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 30/46 chr19 1055793
chr19:1056019 GC
GC
 G
G
 15 a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0011t0001g0012
others(12): Show 
a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0011t0001g0012
a0003c0005t0002g0002
a0003c0005t0002g0003
a0004c0004t0001g0021
a0004c0004t0001g0023
a0005c0022t0001g0004
a0006c0020t0002g0020
a0007c0021t0001g0001
a0010c0010t0001g0013
a0011c0008t0002g0014
a0012c0016t0001g0024
a0013c0013t0002g0030
a0018c0015t0001g0022
 15 HG00673.hp1
HG02145.hp1
HG02145.hp2
others(12): Show 
HG00673.hp1
HG02145.hp1
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02723.hp1
HG02723.hp2
HG02970.hp1
HG02970.hp2
NA18970.hp1
NA18983.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4239-40delC
c.4239-40delC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 31/46 INFO_REALIGN_3_PRIME chr19 1056019
chr19:1056026 C
C
 G
G
 1 a0002c0009t0001g0008
a0002c0009t0001g0008
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.4239-40C>G
c.4239-40C>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 31/46 chr19 1056026
chr19:1056028 G
G
 C
C
 1 a0002c0009t0001g0008
a0002c0009t0001g0008
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.4239-38G>C
c.4239-38G>C
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 31/46 chr19 1056028
chr19:1056564 T
T
 G
G
 2 a0003c0005t0002g0002
a0003c0005t0002g0003
a0003c0005t0002g0002
a0003c0005t0002g0003
 2 HG02145.hp2
HG02970.hp1
HG02145.hp2
HG02970.hp1
 intron_variant MODIFIER c.4586+65T>G
c.4586+65T>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 33/46 chr19 1056564
chr19:1056765 C
C
 T
T
 1 a0002c0011t0001g0012
a0002c0011t0001g0012
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4587-142C>T
c.4587-142C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 33/46 chr19 1056765
chr19:1056838 G
G
 A
A
 2 a0003c0005t0002g0002
a0003c0005t0002g0003
a0003c0005t0002g0002
a0003c0005t0002g0003
 2 HG02145.hp2
HG02970.hp1
HG02145.hp2
HG02970.hp1
 intron_variant MODIFIER c.4587-69G>A
c.4587-69G>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 33/46 chr19 1056838
chr19:1057138 G
G
 A
A
 2 a0008c0006t0002g0006
a0016c0014t0002g0025
a0008c0006t0002g0006
a0016c0014t0002g0025
 2 NA18983.hp2
NA19066.hp1
NA18983.hp2
NA19066.hp1
 intron_variant MODIFIER c.4764+54G>A
c.4764+54G>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 34/46 chr19 1057138
chr19:1057635 C
C
 G
G
 1 a0011c0008t0002g0014
a0011c0008t0002g0014
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.4880+206C>G
c.4880+206C>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 35/46 chr19 1057635
chr19:1057757 G
G
 C
C
 2 a0003c0005t0002g0002
a0003c0005t0002g0003
a0003c0005t0002g0002
a0003c0005t0002g0003
 2 HG02145.hp2
HG02970.hp1
HG02145.hp2
HG02970.hp1
 intron_variant MODIFIER c.4881-158G>C
c.4881-158G>C
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 35/46 chr19 1057757
chr19:1057777 GA
GA
 G
G
 3 a0002c0003t0001g0007
a0003c0005t0002g0002
a0003c0005t0002g0003
a0002c0003t0001g0007
a0003c0005t0002g0002
a0003c0005t0002g0003
 3 HG02145.hp2
HG02970.hp1
NA20905.hp1
HG02145.hp2
HG02970.hp1
NA20905.hp1
 intron_variant MODIFIER c.4881-125delA
c.4881-125delA
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 35/46 INFO_REALIGN_3_PRIME chr19 1057777
chr19:1057864 A
A
 T
T
 3 a0006c0020t0002g0020
a0011c0008t0002g0014
a0013c0013t0002g0030
a0006c0020t0002g0020
a0011c0008t0002g0014
a0013c0013t0002g0030
 3 HG02723.hp2
HG02970.hp2
NA20905.hp2
HG02723.hp2
HG02970.hp2
NA20905.hp2
 intron_variant MODIFIER c.4881-51A>T
c.4881-51A>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 35/46 chr19 1057864
chr19:1058127 G
G
 A
A
 1 a0010c0010t0001g0013
a0010c0010t0001g0013
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.5026-19G>A
c.5026-19G>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 36/46 chr19 1058127
chr19:1059005 A
A
 G
G
 16 a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
others(13): Show 
a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
a0002c0011t0001g0012
a0003c0005t0002g0002
a0003c0005t0002g0003
a0004c0004t0001g0021
a0004c0004t0001g0023
a0005c0022t0001g0004
a0006c0020t0002g0020
a0007c0021t0001g0001
a0010c0010t0001g0013
a0011c0008t0002g0014
a0012c0016t0001g0024
a0013c0013t0002g0030
a0018c0015t0001g0022
 16 HG00673.hp1
HG02145.hp1
HG02145.hp2
others(13): Show 
HG00673.hp1
HG02145.hp1
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02723.hp1
HG02723.hp2
HG02970.hp1
HG02970.hp2
NA18970.hp1
NA18983.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5401-18A>G
c.5401-18A>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 39/46 chr19 1059005
chr19:1059248 A
A
 ATTAT
ATTAT
 6 a0002c0009t0001g0008
a0002c0011t0001g0012
a0004c0004t0001g0021
others(3): Show 
a0002c0009t0001g0008
a0002c0011t0001g0012
a0004c0004t0001g0021
a0007c0021t0001g0001
a0008c0006t0002g0006
a0018c0015t0001g0022
 6 HG02145.hp1
HG02451.hp1
NA18970.hp1
others(3): Show 
HG02145.hp1
HG02451.hp1
NA18970.hp1
NA18983.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5463+194_5463+197d
others(6): Show 
c.5463+194_5463+197dupATTT
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 40/46 INFO_REALIGN_3_PRIME chr19 1059248
chr19:1059248 A
A
 ATTATTTA
others(1): Show 
ATTATTTAT
 6 a0010c0010t0001g0013
a0011c0008t0002g0014
a0014c0019t0002g0029
others(3): Show 
a0010c0010t0001g0013
a0011c0008t0002g0014
a0014c0019t0002g0029
a0015c0018t0001g0028
a0017c0017t0001g0027
a0019c0012t0001g0026
 6 HG01071.hp2
HG02071.hp1
HG02723.hp1
others(3): Show 
HG01071.hp2
HG02071.hp1
HG02723.hp1
HG02723.hp2
HG03688.hp1
HG03688.hp2
 intron_variant MODIFIER c.5463+190_5463+197d
others(10): Show 
c.5463+190_5463+197dupATTTATTT
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 40/46 INFO_REALIGN_3_PRIME chr19 1059248
chr19:1059248 A
A
 ATTATTTA
others(5): Show 
ATTATTTATTTAT
 6 a0002c0003t0001g0007
a0003c0005t0002g0002
a0003c0005t0002g0003
others(3): Show 
a0002c0003t0001g0007
a0003c0005t0002g0002
a0003c0005t0002g0003
a0005c0022t0001g0004
a0006c0020t0002g0020
a0013c0013t0002g0030
 6 HG02145.hp2
HG02451.hp2
HG02970.hp1
others(3): Show 
HG02145.hp2
HG02451.hp2
HG02970.hp1
HG02970.hp2
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.5463+186_5463+197d
others(14): Show 
c.5463+186_5463+197dupATTTATTTATTT
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 40/46 INFO_REALIGN_3_PRIME chr19 1059248
chr19:1059248 A
A
 ATTATTTA
others(9): Show 
ATTATTTATTTATTTAT
 1 a0002c0003t0001g0009
a0002c0003t0001g0009
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.5463+182_5463+197d
others(18): Show 
c.5463+182_5463+197dupATTTATTTATTTATTT
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 40/46 INFO_REALIGN_3_PRIME chr19 1059248
chr19:1059476 A
A
 G
G
 2 a0003c0005t0002g0002
a0003c0005t0002g0003
a0003c0005t0002g0002
a0003c0005t0002g0003
 2 HG02145.hp2
HG02970.hp1
HG02145.hp2
HG02970.hp1
 intron_variant MODIFIER c.5463+391A>G
c.5463+391A>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 40/46 chr19 1059476
chr19:1059556 C
C
 T
T
 11 a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
others(8): Show 
a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
a0002c0011t0001g0012
a0004c0004t0001g0021
a0004c0004t0001g0023
a0005c0022t0001g0004
a0007c0021t0001g0001
a0010c0010t0001g0013
a0012c0016t0001g0024
a0018c0015t0001g0022
 11 HG00673.hp1
HG02145.hp1
HG02451.hp1
others(8): Show 
HG00673.hp1
HG02145.hp1
HG02451.hp1
HG02451.hp2
HG02723.hp1
NA18970.hp1
NA18983.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5463+471C>T
c.5463+471C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 40/46 chr19 1059556
chr19:1059776 A
A
 G
G
 3 a0006c0020t0002g0020
a0011c0008t0002g0014
a0013c0013t0002g0030
a0006c0020t0002g0020
a0011c0008t0002g0014
a0013c0013t0002g0030
 3 HG02723.hp2
HG02970.hp2
NA20905.hp2
HG02723.hp2
HG02970.hp2
NA20905.hp2
 intron_variant MODIFIER c.5463+691A>G
c.5463+691A>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 40/46 chr19 1059776
chr19:1060207 A
A
 ATATATAT
others(25): Show 
ATATATATATATATATATATATATATTTTTTTT
 1 a0011c0008t0002g0014
a0011c0008t0002g0014
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.5463+1123_5463+112
others(36): Show 
c.5463+1123_5463+1124insATATATATATATATATATATATATTT
TTTTTT
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 40/46 INFO_REALIGN_3_PRIME chr19 1060207
chr19:1060207 A
A
 ATATATAT
others(3): Show 
ATATATATTTT
 1 a0003c0005t0002g0002
a0003c0005t0002g0002
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.5463+1123_5463+112
others(14): Show 
c.5463+1123_5463+1124insATATATTTTT
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 40/46 INFO_REALIGN_3_PRIME chr19 1060207
chr19:1060207 A
A
 ATATATTT
others(4): Show 
ATATATTTTTTT
 1 a0003c0005t0002g0003
a0003c0005t0002g0003
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.5463+1123_5463+112
others(15): Show 
c.5463+1123_5463+1124insATATTTTTTTT
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 40/46 INFO_REALIGN_3_PRIME chr19 1060207
chr19:1060208 T
T
 TA
TA
 6 a0008c0006t0002g0006
a0014c0019t0002g0029
a0015c0018t0001g0028
others(3): Show 
a0008c0006t0002g0006
a0014c0019t0002g0029
a0015c0018t0001g0028
a0016c0014t0002g0025
a0017c0017t0001g0027
a0019c0012t0001g0026
 6 HG01071.hp2
HG02071.hp1
HG03688.hp1
others(3): Show 
HG01071.hp2
HG02071.hp1
HG03688.hp1
HG03688.hp2
NA18983.hp2
NA19066.hp1
 intron_variant MODIFIER c.5463+1123_5463+112
others(5): Show 
c.5463+1123_5463+1124insA
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 40/46 chr19 1060208
chr19:1060208 T
T
 TATA
TATA
 7 a0002c0009t0001g0008
a0002c0011t0001g0012
a0004c0004t0001g0021
others(4): Show 
a0002c0009t0001g0008
a0002c0011t0001g0012
a0004c0004t0001g0021
a0004c0004t0001g0023
a0010c0010t0001g0013
a0012c0016t0001g0024
a0018c0015t0001g0022
 7 HG00673.hp1
HG02145.hp1
HG02723.hp1
others(4): Show 
HG00673.hp1
HG02145.hp1
HG02723.hp1
NA18970.hp1
NA18983.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5463+1123_5463+112
others(7): Show 
c.5463+1123_5463+1124insATA
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 40/46 chr19 1060208
chr19:1060209 T
T
 A
A
 7 a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0017
others(4): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0017
a0001c0001t0003g0018
a0001c0001t0003g0019
a0009c0007t0002g0005
a0013c0013t0002g0030
 7 HG00673.hp2
HG01071.hp1
HG02071.hp2
others(4): Show 
HG00673.hp2
HG01071.hp1
HG02071.hp2
NA19066.hp2
NA19079.hp1
NA19079.hp2
NA20905.hp2
 intron_variant MODIFIER c.5463+1124T>A
c.5463+1124T>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 40/46 chr19 1060209
chr19:1060217 C
C
 T
T
 3 a0006c0020t0002g0020
a0011c0008t0002g0014
a0013c0013t0002g0030
a0006c0020t0002g0020
a0011c0008t0002g0014
a0013c0013t0002g0030
 3 HG02723.hp2
HG02970.hp2
NA20905.hp2
HG02723.hp2
HG02970.hp2
NA20905.hp2
 intron_variant MODIFIER c.5463+1132C>T
c.5463+1132C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 40/46 chr19 1060217
chr19:1060399 C
C
 T
T
 2 a0003c0005t0002g0002
a0003c0005t0002g0003
a0003c0005t0002g0002
a0003c0005t0002g0003
 2 HG02145.hp2
HG02970.hp1
HG02145.hp2
HG02970.hp1
 intron_variant MODIFIER c.5463+1314C>T
c.5463+1314C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 40/46 chr19 1060399
chr19:1060488 T
T
 G
G
 18 a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
others(15): Show 
a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
a0002c0011t0001g0012
a0003c0005t0002g0002
a0003c0005t0002g0003
a0004c0004t0001g0021
a0004c0004t0001g0023
a0005c0022t0001g0004
a0006c0020t0002g0020
a0007c0021t0001g0001
a0008c0006t0002g0006
a0010c0010t0001g0013
a0011c0008t0002g0014
a0012c0016t0001g0024
a0013c0013t0002g0030
a0016c0014t0002g0025
a0018c0015t0001g0022
 18 HG00673.hp1
HG02145.hp1
HG02145.hp2
others(15): Show 
HG00673.hp1
HG02145.hp1
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02723.hp1
HG02723.hp2
HG02970.hp1
HG02970.hp2
NA18970.hp1
NA18983.hp1
NA18983.hp2
NA19066.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5464-1294T>G
c.5464-1294T>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 40/46 chr19 1060488
chr19:1060522 CT
CT
 C
C
 3 a0006c0020t0002g0020
a0011c0008t0002g0014
a0013c0013t0002g0030
a0006c0020t0002g0020
a0011c0008t0002g0014
a0013c0013t0002g0030
 3 HG02723.hp2
HG02970.hp2
NA20905.hp2
HG02723.hp2
HG02970.hp2
NA20905.hp2
 intron_variant MODIFIER c.5464-1245delT
c.5464-1245delT
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 40/46 INFO_REALIGN_3_PRIME chr19 1060522
chr19:1060638 G
G
 T
T
 4 a0002c0003t0001g0007
a0002c0003t0001g0009
a0005c0022t0001g0004
others(1): Show 
a0002c0003t0001g0007
a0002c0003t0001g0009
a0005c0022t0001g0004
a0010c0010t0001g0013
 4 HG02451.hp2
HG02723.hp1
NA20805.hp2
others(1): Show 
HG02451.hp2
HG02723.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.5464-1144G>T
c.5464-1144G>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 40/46 chr19 1060638
chr19:1060669 G
G
 A
A
 7 a0002c0009t0001g0008
a0002c0011t0001g0012
a0004c0004t0001g0021
others(4): Show 
a0002c0009t0001g0008
a0002c0011t0001g0012
a0004c0004t0001g0021
a0004c0004t0001g0023
a0007c0021t0001g0001
a0012c0016t0001g0024
a0018c0015t0001g0022
 7 HG00673.hp1
HG02145.hp1
HG02451.hp1
others(4): Show 
HG00673.hp1
HG02145.hp1
HG02451.hp1
NA18970.hp1
NA18983.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5464-1113G>A
c.5464-1113G>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 40/46 chr19 1060669
chr19:1060670 C
C
 T
T
 2 a0003c0005t0002g0002
a0003c0005t0002g0003
a0003c0005t0002g0002
a0003c0005t0002g0003
 2 HG02145.hp2
HG02970.hp1
HG02145.hp2
HG02970.hp1
 intron_variant MODIFIER c.5464-1112C>T
c.5464-1112C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 40/46 chr19 1060670
chr19:1060889 T
T
 C
C
 5 a0003c0005t0002g0002
a0003c0005t0002g0003
a0006c0020t0002g0020
others(2): Show 
a0003c0005t0002g0002
a0003c0005t0002g0003
a0006c0020t0002g0020
a0011c0008t0002g0014
a0013c0013t0002g0030
 5 HG02145.hp2
HG02723.hp2
HG02970.hp1
others(2): Show 
HG02145.hp2
HG02723.hp2
HG02970.hp1
HG02970.hp2
NA20905.hp2
 intron_variant MODIFIER c.5464-893T>C
c.5464-893T>C
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 40/46 chr19 1060889
chr19:1061063 G
G
 A
A
 2 a0008c0006t0002g0006
a0016c0014t0002g0025
a0008c0006t0002g0006
a0016c0014t0002g0025
 2 NA18983.hp2
NA19066.hp1
NA18983.hp2
NA19066.hp1
 intron_variant MODIFIER c.5464-719G>A
c.5464-719G>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 40/46 chr19 1061063
chr19:1061167 C
C
 T
T
 1 a0011c0008t0002g0014
a0011c0008t0002g0014
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.5464-615C>T
c.5464-615C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 40/46 chr19 1061167
chr19:1061168 A
A
 G
G
 5 a0003c0005t0002g0002
a0003c0005t0002g0003
a0006c0020t0002g0020
others(2): Show 
a0003c0005t0002g0002
a0003c0005t0002g0003
a0006c0020t0002g0020
a0011c0008t0002g0014
a0013c0013t0002g0030
 5 HG02145.hp2
HG02723.hp2
HG02970.hp1
others(2): Show 
HG02145.hp2
HG02723.hp2
HG02970.hp1
HG02970.hp2
NA20905.hp2
 intron_variant MODIFIER c.5464-614A>G
c.5464-614A>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 40/46 chr19 1061168
chr19:1061257 C
C
 T
T
 1 a0013c0013t0002g0030
a0013c0013t0002g0030
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.5464-525C>T
c.5464-525C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 40/46 chr19 1061257
chr19:1061381 G
G
 C
C
 7 a0002c0009t0001g0008
a0002c0011t0001g0012
a0004c0004t0001g0021
others(4): Show 
a0002c0009t0001g0008
a0002c0011t0001g0012
a0004c0004t0001g0021
a0004c0004t0001g0023
a0007c0021t0001g0001
a0012c0016t0001g0024
a0018c0015t0001g0022
 7 HG00673.hp1
HG02145.hp1
HG02451.hp1
others(4): Show 
HG00673.hp1
HG02145.hp1
HG02451.hp1
NA18970.hp1
NA18983.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5464-401G>C
c.5464-401G>C
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 40/46 chr19 1061381
chr19:1061390 C
C
 CAAAAAAA
others(7): Show 
CAAAAAAAAAAAAAA
 1 a0011c0008t0002g0014
a0011c0008t0002g0014
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.5464-383_5464-370d
others(16): Show 
c.5464-383_5464-370dupAAAAAAAAAAAAAA
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 40/46 INFO_REALIGN_3_PRIME chr19 1061390
chr19:1061479 A
A
 G
G
 4 a0003c0005t0002g0002
a0003c0005t0002g0003
a0006c0020t0002g0020
others(1): Show 
a0003c0005t0002g0002
a0003c0005t0002g0003
a0006c0020t0002g0020
a0011c0008t0002g0014
 4 HG02145.hp2
HG02723.hp2
HG02970.hp1
others(1): Show 
HG02145.hp2
HG02723.hp2
HG02970.hp1
HG02970.hp2
 intron_variant MODIFIER c.5464-303A>G
c.5464-303A>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 40/46 chr19 1061479
chr19:1061532 T
T
 TA
TA
 6 a0006c0020t0002g0020
a0011c0008t0002g0014
a0014c0019t0002g0029
others(3): Show 
a0006c0020t0002g0020
a0011c0008t0002g0014
a0014c0019t0002g0029
a0015c0018t0001g0028
a0017c0017t0001g0027
a0019c0012t0001g0026
 6 HG01071.hp2
HG02071.hp1
HG02723.hp2
others(3): Show 
HG01071.hp2
HG02071.hp1
HG02723.hp2
HG02970.hp2
HG03688.hp1
HG03688.hp2
 intron_variant MODIFIER c.5464-241dupA
c.5464-241dupA
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 40/46 INFO_REALIGN_3_PRIME chr19 1061532
chr19:1061586 C
C
 G
G
 2 a0008c0006t0002g0006
a0016c0014t0002g0025
a0008c0006t0002g0006
a0016c0014t0002g0025
 2 NA18983.hp2
NA19066.hp1
NA18983.hp2
NA19066.hp1
 intron_variant MODIFIER c.5464-196C>G
c.5464-196C>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 40/46 chr19 1061586
chr19:1061699 C
C
 CA
CA
 14 a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0011t0001g0012
others(11): Show 
a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0011t0001g0012
a0003c0005t0002g0002
a0003c0005t0002g0003
a0004c0004t0001g0021
a0004c0004t0001g0023
a0005c0022t0001g0004
a0006c0020t0002g0020
a0007c0021t0001g0001
a0010c0010t0001g0013
a0012c0016t0001g0024
a0013c0013t0002g0030
a0018c0015t0001g0022
 14 HG00673.hp1
HG02145.hp1
HG02145.hp2
others(11): Show 
HG00673.hp1
HG02145.hp1
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02723.hp1
HG02970.hp1
HG02970.hp2
NA18970.hp1
NA18983.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5464-67dupA
c.5464-67dupA
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 40/46 INFO_REALIGN_3_PRIME chr19 1061699
chr19:1061911 A
A
 G
G
 4 a0003c0005t0002g0002
a0003c0005t0002g0003
a0006c0020t0002g0020
others(1): Show 
a0003c0005t0002g0002
a0003c0005t0002g0003
a0006c0020t0002g0020
a0011c0008t0002g0014
 4 HG02145.hp2
HG02723.hp2
HG02970.hp1
others(1): Show 
HG02145.hp2
HG02723.hp2
HG02970.hp1
HG02970.hp2
 intron_variant MODIFIER c.5570+23A>G
c.5570+23A>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 41/46 chr19 1061911
chr19:1061921 A
A
 G
G
 5 a0003c0005t0002g0002
a0003c0005t0002g0003
a0006c0020t0002g0020
others(2): Show 
a0003c0005t0002g0002
a0003c0005t0002g0003
a0006c0020t0002g0020
a0011c0008t0002g0014
a0013c0013t0002g0030
 5 HG02145.hp2
HG02723.hp2
HG02970.hp1
others(2): Show 
HG02145.hp2
HG02723.hp2
HG02970.hp1
HG02970.hp2
NA20905.hp2
 intron_variant MODIFIER c.5570+33A>G
c.5570+33A>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 41/46 chr19 1061921
chr19:1062042 C
C
 G
G
 2 a0008c0006t0002g0006
a0016c0014t0002g0025
a0008c0006t0002g0006
a0016c0014t0002g0025
 2 NA18983.hp2
NA19066.hp1
NA18983.hp2
NA19066.hp1
 intron_variant MODIFIER c.5571-130C>G
c.5571-130C>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 41/46 chr19 1062042
chr19:1062165 T
T
 C
C
 5 a0003c0005t0002g0002
a0003c0005t0002g0003
a0006c0020t0002g0020
others(2): Show 
a0003c0005t0002g0002
a0003c0005t0002g0003
a0006c0020t0002g0020
a0008c0006t0002g0006
a0016c0014t0002g0025
 5 HG02145.hp2
HG02970.hp1
HG02970.hp2
others(2): Show 
HG02145.hp2
HG02970.hp1
HG02970.hp2
NA18983.hp2
NA19066.hp1
 splice_region_variant&intron_variant LOW c.5571-7T>C
c.5571-7T>C
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 41/46 chr19 1062165
chr19:1062371 T
T
 C
C
 4 a0014c0019t0002g0029
a0015c0018t0001g0028
a0017c0017t0001g0027
others(1): Show 
a0014c0019t0002g0029
a0015c0018t0001g0028
a0017c0017t0001g0027
a0019c0012t0001g0026
 4 HG01071.hp2
HG02071.hp1
HG03688.hp1
others(1): Show 
HG01071.hp2
HG02071.hp1
HG03688.hp1
HG03688.hp2
 intron_variant MODIFIER c.5712+58T>C
c.5712+58T>C
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 42/46 chr19 1062371
chr19:1062429 G
G
 A
A
 1 a0009c0007t0002g0005
a0009c0007t0002g0005
 1 NA19079.hp2
NA19079.hp2
 intron_variant MODIFIER c.5712+116G>A
c.5712+116G>A
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 42/46 chr19 1062429
chr19:1062599 T
T
 C
C
 15 a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
others(12): Show 
a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
a0002c0011t0001g0012
a0004c0004t0001g0021
a0004c0004t0001g0023
a0005c0022t0001g0004
a0007c0021t0001g0001
a0010c0010t0001g0013
a0012c0016t0001g0024
a0014c0019t0002g0029
a0015c0018t0001g0028
a0017c0017t0001g0027
a0018c0015t0001g0022
a0019c0012t0001g0026
 15 HG00673.hp1
HG01071.hp2
HG02071.hp1
others(12): Show 
HG00673.hp1
HG01071.hp2
HG02071.hp1
HG02145.hp1
HG02451.hp1
HG02451.hp2
HG02723.hp1
HG03688.hp1
HG03688.hp2
NA18970.hp1
NA18983.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5712+286T>C
c.5712+286T>C
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 42/46 chr19 1062599
chr19:1062702 C
C
 T
T
 11 a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
others(8): Show 
a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
a0002c0011t0001g0012
a0004c0004t0001g0021
a0004c0004t0001g0023
a0005c0022t0001g0004
a0007c0021t0001g0001
a0010c0010t0001g0013
a0012c0016t0001g0024
a0018c0015t0001g0022
 11 HG00673.hp1
HG02145.hp1
HG02451.hp1
others(8): Show 
HG00673.hp1
HG02145.hp1
HG02451.hp1
HG02451.hp2
HG02723.hp1
NA18970.hp1
NA18983.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5712+389C>T
c.5712+389C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 42/46 chr19 1062702
chr19:1062865 C
C
 G
G
 3 a0006c0020t0002g0020
a0008c0006t0002g0006
a0016c0014t0002g0025
a0006c0020t0002g0020
a0008c0006t0002g0006
a0016c0014t0002g0025
 3 HG02970.hp2
NA18983.hp2
NA19066.hp1
HG02970.hp2
NA18983.hp2
NA19066.hp1
 intron_variant MODIFIER c.5712+552C>G
c.5712+552C>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 42/46 chr19 1062865
chr19:1062875 ACCCCATA
others(32): Show 
ACCCCATACTCATGCTGGCTCCACCCACACCATGGCCCCG
 A
A
 2 a0002c0009t0001g0008
a0002c0011t0001g0012
a0002c0009t0001g0008
a0002c0011t0001g0012
 2 NA20805.hp1
homoSapiens_chm13v2.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5713-552_5713-514d
others(41): Show 
c.5713-552_5713-514delGCCCCATACTCATGCTGGCTCCACCCAC
ACCATGGCCCC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 42/46 INFO_REALIGN_3_PRIME chr19 1062875
chr19:1062917 C
C
 CCATACTC
others(32): Show 
CCATACTCATGCTGGCTCCACCCACACCATGGCCCCGCCG
 1 a0006c0020t0002g0020
a0006c0020t0002g0020
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.5713-589_5713-588i
others(41): Show 
c.5713-589_5713-588insGCATACTCATGCTGGCTCCACCCACACC
ATGGCCCCGCC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 42/46 INFO_REALIGN_3_PRIME chr19 1062917
chr19:1062956 C
C
 G
G
 17 a0002c0003t0001g0007
a0002c0003t0001g0009
a0003c0005t0002g0002
others(14): Show 
a0002c0003t0001g0007
a0002c0003t0001g0009
a0003c0005t0002g0002
a0003c0005t0002g0003
a0004c0004t0001g0021
a0004c0004t0001g0023
a0005c0022t0001g0004
a0007c0021t0001g0001
a0010c0010t0001g0013
a0011c0008t0002g0014
a0012c0016t0001g0024
a0013c0013t0002g0030
a0014c0019t0002g0029
a0015c0018t0001g0028
a0017c0017t0001g0027
a0018c0015t0001g0022
a0019c0012t0001g0026
 17 HG00673.hp1
HG01071.hp2
HG02071.hp1
others(14): Show 
HG00673.hp1
HG01071.hp2
HG02071.hp1
HG02145.hp1
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02723.hp1
HG02723.hp2
HG02970.hp1
HG03688.hp1
HG03688.hp2
NA18970.hp1
NA18983.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.5713-588C>G
c.5713-588C>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 42/46 chr19 1062956
chr19:1063006 C
C
 T
T
 16 a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
others(13): Show 
a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
a0002c0011t0001g0012
a0004c0004t0001g0021
a0004c0004t0001g0023
a0005c0022t0001g0004
a0007c0021t0001g0001
a0010c0010t0001g0013
a0012c0016t0001g0024
a0013c0013t0002g0030
a0014c0019t0002g0029
a0015c0018t0001g0028
a0017c0017t0001g0027
a0018c0015t0001g0022
a0019c0012t0001g0026
 16 HG00673.hp1
HG01071.hp2
HG02071.hp1
others(13): Show 
HG00673.hp1
HG01071.hp2
HG02071.hp1
HG02145.hp1
HG02451.hp1
HG02451.hp2
HG02723.hp1
HG03688.hp1
HG03688.hp2
NA18970.hp1
NA18983.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5713-538C>T
c.5713-538C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 42/46 chr19 1063006
chr19:1063009 G
G
 C
C
 17 a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
others(14): Show 
a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
a0002c0011t0001g0012
a0004c0004t0001g0021
a0004c0004t0001g0023
a0005c0022t0001g0004
a0006c0020t0002g0020
a0007c0021t0001g0001
a0010c0010t0001g0013
a0012c0016t0001g0024
a0013c0013t0002g0030
a0014c0019t0002g0029
a0015c0018t0001g0028
a0017c0017t0001g0027
a0018c0015t0001g0022
a0019c0012t0001g0026
 17 HG00673.hp1
HG01071.hp2
HG02071.hp1
others(14): Show 
HG00673.hp1
HG01071.hp2
HG02071.hp1
HG02145.hp1
HG02451.hp1
HG02451.hp2
HG02723.hp1
HG02970.hp2
HG03688.hp1
HG03688.hp2
NA18970.hp1
NA18983.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5713-535G>C
c.5713-535G>C
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 42/46 chr19 1063009
chr19:1063009 G
G
 GCTCCACC
others(32): Show 
GCTCCACCCACACCATGGCCCCGCCCCATACTCATGCTGC
 2 a0008c0006t0002g0006
a0016c0014t0002g0025
a0008c0006t0002g0006
a0016c0014t0002g0025
 2 NA18983.hp2
NA19066.hp1
NA18983.hp2
NA19066.hp1
 intron_variant MODIFIER c.5713-514_5713-513i
others(41): Show 
c.5713-514_5713-513insGCCCCATACTCATGCTGCCTCCACCCAC
ACCATGGCCCC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 42/46 INFO_REALIGN_3_PRIME chr19 1063009
chr19:1063009 G
G
 GCTCCACC
others(32): Show 
GCTCCACCCACACCATGGCCCCGCCCCATACTCATGTTGC
 3 a0003c0005t0002g0002
a0003c0005t0002g0003
a0011c0008t0002g0014
a0003c0005t0002g0002
a0003c0005t0002g0003
a0011c0008t0002g0014
 3 HG02145.hp2
HG02723.hp2
HG02970.hp1
HG02145.hp2
HG02723.hp2
HG02970.hp1
 intron_variant MODIFIER c.5713-514_5713-513i
others(41): Show 
c.5713-514_5713-513insGCCCCATACTCATGTTGCCTCCACCCAC
ACCATGGCCCC
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 42/46 INFO_REALIGN_3_PRIME chr19 1063009
chr19:1063031 A
A
 G
G
 1 a0013c0013t0002g0030
a0013c0013t0002g0030
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.5713-513A>G
c.5713-513A>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 42/46 chr19 1063031
chr19:1063080 C
C
 G
G
 16 a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
others(13): Show 
a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
a0002c0011t0001g0012
a0004c0004t0001g0021
a0004c0004t0001g0023
a0005c0022t0001g0004
a0007c0021t0001g0001
a0010c0010t0001g0013
a0012c0016t0001g0024
a0013c0013t0002g0030
a0014c0019t0002g0029
a0015c0018t0001g0028
a0017c0017t0001g0027
a0018c0015t0001g0022
a0019c0012t0001g0026
 16 HG00673.hp1
HG01071.hp2
HG02071.hp1
others(13): Show 
HG00673.hp1
HG01071.hp2
HG02071.hp1
HG02145.hp1
HG02451.hp1
HG02451.hp2
HG02723.hp1
HG03688.hp1
HG03688.hp2
NA18970.hp1
NA18983.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5713-464C>G
c.5713-464C>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 42/46 chr19 1063080
chr19:1063108 C
C
 T
T
 9 a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
others(6): Show 
a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
a0002c0011t0001g0012
a0004c0004t0001g0021
a0005c0022t0001g0004
a0007c0021t0001g0001
a0010c0010t0001g0013
a0018c0015t0001g0022
 9 HG02145.hp1
HG02451.hp1
HG02451.hp2
others(6): Show 
HG02145.hp1
HG02451.hp1
HG02451.hp2
HG02723.hp1
NA18970.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5713-436C>T
c.5713-436C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 42/46 chr19 1063108
chr19:1063162 G
G
 GCTCCACC
others(221): Show 
GCTCCACCCACACCATGGCCCCGCCCCATACTCATGCTGGCTCCACCAGT
GTGGCCCCGCCCCATACTCATGCTGTCTCCACCCACACCATGGCCCCGCC
CCATACTCATGCTGGCTCCACCCACACTATGGCCCTGCCCCATACTCATG
CTGGCTCCACCCACACCATGGCCCCGCCCCATACTCATGCTGGCTCCACC
AGTGTGGCCCCGCCCCATACTCATGCTGT
 1 a0013c0013t0002g0030
a0013c0013t0002g0030
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.5713-241_5713-240i
others(230): Show 
c.5713-241_5713-240insTACTCATGCTGGCTCCACCCACACCATG
GCCCCGCCCCATACTCATGCTGGCTCCACCAGTGTGGCCCCGCCCCATAC
TCATGCTGTCTCCACCCACACCATGGCCCCGCCCCATACTCATGCTGGCT
CCACCAGTGTGGCCCCGCCCCATACTCATGCTGTCTCCACCCACACCATG
GCCCCGCCCCATACTCATGCTGGCTCCACCCACACTATGGCCCTGCCCCA
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 42/46 INFO_REALIGN_3_PRIME chr19 1063162
chr19:1063304 C
C
 T
T
 15 a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
others(12): Show 
a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
a0002c0011t0001g0012
a0004c0004t0001g0021
a0004c0004t0001g0023
a0005c0022t0001g0004
a0007c0021t0001g0001
a0010c0010t0001g0013
a0012c0016t0001g0024
a0014c0019t0002g0029
a0015c0018t0001g0028
a0017c0017t0001g0027
a0018c0015t0001g0022
a0019c0012t0001g0026
 15 HG00673.hp1
HG01071.hp2
HG02071.hp1
others(12): Show 
HG00673.hp1
HG01071.hp2
HG02071.hp1
HG02145.hp1
HG02451.hp1
HG02451.hp2
HG02723.hp1
HG03688.hp1
HG03688.hp2
NA18970.hp1
NA18983.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5713-240C>T
c.5713-240C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 42/46 chr19 1063304
chr19:1063307 C
C
 T
T
 15 a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
others(12): Show 
a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
a0002c0011t0001g0012
a0004c0004t0001g0021
a0004c0004t0001g0023
a0005c0022t0001g0004
a0007c0021t0001g0001
a0010c0010t0001g0013
a0012c0016t0001g0024
a0014c0019t0002g0029
a0015c0018t0001g0028
a0017c0017t0001g0027
a0018c0015t0001g0022
a0019c0012t0001g0026
 15 HG00673.hp1
HG01071.hp2
HG02071.hp1
others(12): Show 
HG00673.hp1
HG01071.hp2
HG02071.hp1
HG02145.hp1
HG02451.hp1
HG02451.hp2
HG02723.hp1
HG03688.hp1
HG03688.hp2
NA18970.hp1
NA18983.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5713-237C>T
c.5713-237C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 42/46 chr19 1063307
chr19:1063311 C
C
 G
G
 15 a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
others(12): Show 
a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
a0002c0011t0001g0012
a0004c0004t0001g0021
a0004c0004t0001g0023
a0005c0022t0001g0004
a0007c0021t0001g0001
a0010c0010t0001g0013
a0012c0016t0001g0024
a0014c0019t0002g0029
a0015c0018t0001g0028
a0017c0017t0001g0027
a0018c0015t0001g0022
a0019c0012t0001g0026
 15 HG00673.hp1
HG01071.hp2
HG02071.hp1
others(12): Show 
HG00673.hp1
HG01071.hp2
HG02071.hp1
HG02145.hp1
HG02451.hp1
HG02451.hp2
HG02723.hp1
HG03688.hp1
HG03688.hp2
NA18970.hp1
NA18983.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5713-233C>G
c.5713-233C>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 42/46 chr19 1063311
chr19:1063313 C
C
 T
T
 15 a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
others(12): Show 
a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
a0002c0011t0001g0012
a0004c0004t0001g0021
a0004c0004t0001g0023
a0005c0022t0001g0004
a0007c0021t0001g0001
a0010c0010t0001g0013
a0012c0016t0001g0024
a0014c0019t0002g0029
a0015c0018t0001g0028
a0017c0017t0001g0027
a0018c0015t0001g0022
a0019c0012t0001g0026
 15 HG00673.hp1
HG01071.hp2
HG02071.hp1
others(12): Show 
HG00673.hp1
HG01071.hp2
HG02071.hp1
HG02145.hp1
HG02451.hp1
HG02451.hp2
HG02723.hp1
HG03688.hp1
HG03688.hp2
NA18970.hp1
NA18983.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5713-231C>T
c.5713-231C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 42/46 chr19 1063313
chr19:1063314 A
A
 G
G
 15 a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
others(12): Show 
a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
a0002c0011t0001g0012
a0004c0004t0001g0021
a0004c0004t0001g0023
a0005c0022t0001g0004
a0007c0021t0001g0001
a0010c0010t0001g0013
a0012c0016t0001g0024
a0014c0019t0002g0029
a0015c0018t0001g0028
a0017c0017t0001g0027
a0018c0015t0001g0022
a0019c0012t0001g0026
 15 HG00673.hp1
HG01071.hp2
HG02071.hp1
others(12): Show 
HG00673.hp1
HG01071.hp2
HG02071.hp1
HG02145.hp1
HG02451.hp1
HG02451.hp2
HG02723.hp1
HG03688.hp1
HG03688.hp2
NA18970.hp1
NA18983.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5713-230A>G
c.5713-230A>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 42/46 chr19 1063314
chr19:1063364 C
C
 T
T
 15 a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
others(12): Show 
a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
a0002c0011t0001g0012
a0004c0004t0001g0021
a0004c0004t0001g0023
a0005c0022t0001g0004
a0007c0021t0001g0001
a0010c0010t0001g0013
a0012c0016t0001g0024
a0014c0019t0002g0029
a0015c0018t0001g0028
a0017c0017t0001g0027
a0018c0015t0001g0022
a0019c0012t0001g0026
 15 HG00673.hp1
HG01071.hp2
HG02071.hp1
others(12): Show 
HG00673.hp1
HG01071.hp2
HG02071.hp1
HG02145.hp1
HG02451.hp1
HG02451.hp2
HG02723.hp1
HG03688.hp1
HG03688.hp2
NA18970.hp1
NA18983.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5713-180C>T
c.5713-180C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 42/46 chr19 1063364
chr19:1063444 A
A
 G
G
 22 a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
others(19): Show 
a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
a0002c0011t0001g0012
a0003c0005t0002g0002
a0003c0005t0002g0003
a0004c0004t0001g0021
a0004c0004t0001g0023
a0005c0022t0001g0004
a0006c0020t0002g0020
a0007c0021t0001g0001
a0008c0006t0002g0006
a0010c0010t0001g0013
a0011c0008t0002g0014
a0012c0016t0001g0024
a0013c0013t0002g0030
a0014c0019t0002g0029
a0015c0018t0001g0028
a0016c0014t0002g0025
a0017c0017t0001g0027
a0018c0015t0001g0022
a0019c0012t0001g0026
 22 HG00673.hp1
HG01071.hp2
HG02071.hp1
others(19): Show 
HG00673.hp1
HG01071.hp2
HG02071.hp1
HG02145.hp1
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02723.hp1
HG02723.hp2
HG02970.hp1
HG02970.hp2
HG03688.hp1
HG03688.hp2
NA18970.hp1
NA18983.hp1
NA18983.hp2
NA19066.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5713-100A>G
c.5713-100A>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 42/46 chr19 1063444
chr19:1063931 C
C
 T
T
 4 a0014c0019t0002g0029
a0015c0018t0001g0028
a0017c0017t0001g0027
others(1): Show 
a0014c0019t0002g0029
a0015c0018t0001g0028
a0017c0017t0001g0027
a0019c0012t0001g0026
 4 HG01071.hp2
HG02071.hp1
HG03688.hp1
others(1): Show 
HG01071.hp2
HG02071.hp1
HG03688.hp1
HG03688.hp2
 intron_variant MODIFIER c.5951+68C>T
c.5951+68C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 44/46 chr19 1063931
chr19:1064412 A
A
 G
G
 2 a0003c0005t0002g0002
a0003c0005t0002g0003
a0003c0005t0002g0002
a0003c0005t0002g0003
 2 HG02145.hp2
HG02970.hp1
HG02145.hp2
HG02970.hp1
 intron_variant MODIFIER c.6044+159A>G
c.6044+159A>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 45/46 chr19 1064412
chr19:1064454 G
G
 C
C
 4 a0014c0019t0002g0029
a0015c0018t0001g0028
a0017c0017t0001g0027
others(1): Show 
a0014c0019t0002g0029
a0015c0018t0001g0028
a0017c0017t0001g0027
a0019c0012t0001g0026
 4 HG01071.hp2
HG02071.hp1
HG03688.hp1
others(1): Show 
HG01071.hp2
HG02071.hp1
HG03688.hp1
HG03688.hp2
 intron_variant MODIFIER c.6044+201G>C
c.6044+201G>C
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 45/46 chr19 1064454
chr19:1064486 C
C
 T
T
 15 a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
others(12): Show 
a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
a0002c0011t0001g0012
a0004c0004t0001g0021
a0004c0004t0001g0023
a0005c0022t0001g0004
a0007c0021t0001g0001
a0010c0010t0001g0013
a0012c0016t0001g0024
a0014c0019t0002g0029
a0015c0018t0001g0028
a0017c0017t0001g0027
a0018c0015t0001g0022
a0019c0012t0001g0026
 15 HG00673.hp1
HG01071.hp2
HG02071.hp1
others(12): Show 
HG00673.hp1
HG01071.hp2
HG02071.hp1
HG02145.hp1
HG02451.hp1
HG02451.hp2
HG02723.hp1
HG03688.hp1
HG03688.hp2
NA18970.hp1
NA18983.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6044+233C>T
c.6044+233C>T
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 45/46 chr19 1064486
chr19:1064566 A
A
 G
G
 2 a0008c0006t0002g0006
a0016c0014t0002g0025
a0008c0006t0002g0006
a0016c0014t0002g0025
 2 NA18983.hp2
NA19066.hp1
NA18983.hp2
NA19066.hp1
 intron_variant MODIFIER c.6044+313A>G
c.6044+313A>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 45/46 chr19 1064566
chr19:1064590 G
G
 C
C
 16 a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
others(13): Show 
a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
a0002c0011t0001g0012
a0004c0004t0001g0021
a0004c0004t0001g0023
a0005c0022t0001g0004
a0007c0021t0001g0001
a0010c0010t0001g0013
a0011c0008t0002g0014
a0012c0016t0001g0024
a0014c0019t0002g0029
a0015c0018t0001g0028
a0017c0017t0001g0027
a0018c0015t0001g0022
a0019c0012t0001g0026
 16 HG00673.hp1
HG01071.hp2
HG02071.hp1
others(13): Show 
HG00673.hp1
HG01071.hp2
HG02071.hp1
HG02145.hp1
HG02451.hp1
HG02451.hp2
HG02723.hp1
HG02723.hp2
HG03688.hp1
HG03688.hp2
NA18970.hp1
NA18983.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6044+337G>C
c.6044+337G>C
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 45/46 chr19 1064590
chr19:1064829 A
A
 G
G
 1 a0011c0008t0002g0014
a0011c0008t0002g0014
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.6045-102A>G
c.6045-102A>G
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 45/46 chr19 1064829
chr19:1064900 G
G
 C
C
 1 a0013c0013t0002g0030
a0013c0013t0002g0030
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.6045-31G>C
c.6045-31G>C
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 45/46 chr19 1064900
chr19:1065198 G
G
 C
C
 14 a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
others(11): Show 
a0002c0003t0001g0007
a0002c0003t0001g0009
a0002c0009t0001g0008
a0002c0011t0001g0012
a0004c0004t0001g0021
a0004c0004t0001g0023
a0005c0022t0001g0004
a0007c0021t0001g0001
a0010c0010t0001g0013
a0012c0016t0001g0024
a0015c0018t0001g0028
a0017c0017t0001g0027
a0018c0015t0001g0022
a0019c0012t0001g0026
 14 HG00673.hp1
HG01071.hp2
HG02145.hp1
others(11): Show 
HG00673.hp1
HG01071.hp2
HG02145.hp1
HG02451.hp1
HG02451.hp2
HG02723.hp1
HG03688.hp1
HG03688.hp2
NA18970.hp1
NA18983.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6285+27G>C
c.6285+27G>C
ABCA7 ENSG00000064687.13 transcript ENST00000263094.11 protein_coding 46/46 chr19 1065198

  • GeneCards
  • OpenTarget
  • The Human Protein Atlas
  • Gnomad v4.1.0
  • PhewebJP (Japan)
  • UKB-TOPMed (UMich) (UK and US)
  • FinnGen r11 (Finland)
  • KoGES (Korean)
  • Mouse Phenotype
  • Zebra Phenotype
  • TogoVar

  • DNA
  • Satellite
  • All Snps 1.4.2
  • RC
  • snRNA
  • SINE
  • GC %
  • Simple_repeat
  • RNA
  • Retroposon
  • Unknown
  • Low_complexity
  • LINE
  • scRNA
  • CpG Islands
  • Phastcons (20 way)
  • srpRNA
  • Common Snps 1.4.2
  • rRNA
  • LTR
  • tRNA

  • Axiom Genome-Wide Array (Japonica Array V1)
  • Axiom Genome-Wide Array (Japonica Array V2)
  • Axiom Genome-Wide ASI Array V1 (ASI V1)
​

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