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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   LDLR_chr19_11084463_11138820  LDLR_chr19_11084463_11138820 (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 3949
ensemblid ENSG00000130164.15
hgncid 6547
symbol LDLR
name low density lipoprotein receptor
refseq_nuc NM_000527.5
refseq_prot NP_000518.1
ensembl_nuc ENST00000558518.6
ensembl_prot ENSP00000454071.1
mane_status MANE Select
chr chr19
start 11089463
end 11133820
strand +
ver v1.2
region chr19:11089463-11133820
region5000 chr19:11084463-11138820
regionname0 LDLR_chr19_11089463_11133820
regionname5000 LDLR_chr19_11084463_11138820

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 1/1 860 327 73 54 150 8 40 114 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0002 0/0 860 24 16 6 0 2 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0003 0/0 860 3 0 0 3 0 0 3 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0004 0/0 860 2 2 0 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0005 0/0 860 1 0 0 1 0 0 1 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0006 0/0 860 1 1 0 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 0/0 2583 76 10 11 48 1 6 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
c0002 0/0 2583 58 7 17 18 2 14 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
c0003 0/0 2583 55 10 1 41 0 3 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
c0004 0/0 2583 49 23 3 20 0 3 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
c0005 0/0 2583 23 15 6 0 2 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
c0006 0/0 2583 22 7 6 6 0 3 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
c0007 1/1 2583 21 4 2 7 3 3 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
c0008 0/0 2583 17 4 8 0 2 3 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
c0009 0/0 2583 5 0 3 1 0 1 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
c0010 0/0 2583 4 0 0 0 0 4 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
c0011 0/0 2583 3 0 0 3 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
c0012 0/0 2583 3 0 0 3 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
c0013 0/0 2583 3 3 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
c0014 0/0 2583 2 2 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
c0015 0/0 2583 2 2 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
c0016 0/0 2583 2 0 0 2 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
c0017 0/0 2583 2 0 0 2 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
c0018 0/0 2583 2 2 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
c0019 0/0 2583 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
c0020 0/0 2583 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
c0021 0/0 2583 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
c0022 0/0 2583 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
c0023 0/0 2583 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
c0024 0/0 2583 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
c0025 0/0 2583 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
c0026 0/0 2583 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
c0027 0/0 2583 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 0/1 2590 63 4 18 26 3 11 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0002 1/0 2591 35 17 5 6 4 2 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0003 0/0 2589 32 8 0 22 0 2 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0004 0/0 2590 26 9 0 14 0 3 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0005 0/0 2593 25 2 8 11 0 4 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0006 0/0 2590 25 9 6 8 0 2 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0007 0/0 2593 24 0 1 22 0 1 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0008 0/0 2589 21 6 10 1 2 2 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0009 0/0 2589 13 11 2 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0010 0/0 2593 9 0 2 3 1 3 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0011 0/0 2594 6 0 2 2 0 2 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0012 0/0 2594 5 0 0 5 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0013 0/0 2595 5 4 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0014 0/0 2593 4 0 0 3 0 1 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0015 0/0 2591 4 0 0 3 0 1 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0016 0/0 2593 3 0 0 3 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0017 0/0 2590 3 0 3 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0018 0/0 2591 3 0 0 3 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0019 0/0 2589 3 3 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0020 0/0 2589 3 3 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0021 0/0 2589 3 3 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0022 0/0 2594 2 0 0 2 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0023 0/0 2596 2 1 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0024 0/0 2592 2 2 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0025 0/0 2589 2 2 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0026 0/0 2595 2 0 0 2 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0027 0/0 2594 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0028 0/0 2590 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0029 0/0 2596 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0030 0/0 2594 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0031 0/0 2593 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0032 0/0 2595 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0033 0/0 2589 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0034 0/0 2593 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0035 0/0 2593 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0036 0/0 2589 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0037 0/0 2593 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0038 0/0 2590 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0039 0/0 2590 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0040 0/0 2590 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0041 0/0 2591 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0042 0/0 2590 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0043 0/0 2592 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0044 0/0 2590 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0045 0/0 2590 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0046 0/0 2589 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0047 0/0 2590 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0048 0/0 2589 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0049 0/0 2589 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0050 0/0 2590 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0051 0/0 2592 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0052 0/0 2592 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0053 0/0 2589 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0054 0/0 2589 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0055 0/0 2589 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0056 0/0 2591 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0057 0/0 2589 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0058 0/0 2589 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
t0059 0/0 2589 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 3 0 0 3 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0002 0/0 3 0 1 0 1 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0003 0/0 2 1 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0004 0/0 2 0 2 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0005 0/0 2 0 1 0 1 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0006 0/0 2 0 1 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0007 0/0 2 0 2 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0008 0/0 2 2 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0009 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0010 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0011 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0012 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0013 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0014 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0015 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0016 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0017 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0018 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0019 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0020 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0021 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0022 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0023 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0024 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0025 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0026 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0027 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0028 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0029 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0030 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0031 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0032 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0033 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0034 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0035 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0036 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0037 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0038 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0039 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0040 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0041 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0042 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0043 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0044 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0045 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0046 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0047 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0048 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0049 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0050 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0051 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0052 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0053 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0054 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0055 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0056 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0057 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0058 1/0 1 0 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0059 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0060 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0061 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0062 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0063 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0064 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0065 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0066 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0067 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0068 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0069 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0070 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0071 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0072 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0073 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0074 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0075 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0076 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0077 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0078 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0079 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0080 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0081 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0082 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0083 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0084 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0085 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0086 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0087 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0088 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0089 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0090 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0091 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0092 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0093 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0094 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0095 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0096 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0097 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0098 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0099 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0100 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0101 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0102 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0103 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0104 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0105 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0106 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0107 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0108 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0109 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0110 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0111 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0112 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0113 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0114 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0115 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0116 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0117 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0118 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0119 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0120 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0121 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0122 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0123 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0124 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0125 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0126 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0127 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0128 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0129 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0130 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0131 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0132 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0133 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0134 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0135 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0136 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0137 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0138 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0139 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0140 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0141 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0142 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0143 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0144 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0145 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0146 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0147 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0148 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0149 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0150 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0151 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0152 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0153 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0154 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0155 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0156 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0157 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0158 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0159 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0160 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0161 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0162 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0163 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0164 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0165 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0166 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0167 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0168 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0169 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0170 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0171 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0172 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0173 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0174 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0175 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0176 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0177 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0178 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0179 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0180 0/0 1 0 0 0 1 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0181 0/1 1 0 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0182 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0183 0/0 1 0 0 0 1 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0184 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0185 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0186 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0187 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0188 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0189 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0190 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0191 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0192 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0193 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0194 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0195 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0196 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0197 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0198 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0199 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0200 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0201 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0202 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0203 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0204 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0205 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0206 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0207 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0208 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0209 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0210 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0211 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0212 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0213 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0214 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0215 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0216 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0217 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0218 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0219 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0220 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0221 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0222 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0223 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0224 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0225 0/0 1 0 0 0 1 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0226 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0227 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0228 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0229 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0230 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0231 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0232 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0233 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0234 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0235 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0236 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0237 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0238 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0239 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0240 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0241 0/0 1 0 0 0 1 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0242 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0243 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0244 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0245 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0246 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0247 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0248 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0249 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0250 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0251 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0252 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0253 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0254 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0255 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0256 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0257 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0258 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0259 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0260 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0261 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0262 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0263 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0264 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0265 0/0 1 0 0 0 1 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0266 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0267 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0268 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0269 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0270 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0271 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0272 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0273 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0274 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0275 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0276 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0277 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0278 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0279 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0280 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0281 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0282 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0283 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0284 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0285 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0286 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0287 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0288 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0289 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0290 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0291 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0292 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0293 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0294 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0295 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0296 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0297 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0298 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0299 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0300 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0301 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0302 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0303 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0304 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0305 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0306 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0307 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0308 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0309 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0310 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0311 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0312 0/0 1 0 0 0 1 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0313 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0314 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0315 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0316 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0317 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0318 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0319 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0320 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0321 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0322 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0323 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0324 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0325 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0326 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0327 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0328 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0329 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0330 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0331 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0332 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0333 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0334 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0335 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0336 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0337 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0338 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0339 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0340 0/0 1 0 0 0 1 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0341 0/0 1 0 0 0 1 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0342 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0343 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0344 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0345 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0346 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0347 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
g0348 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 0/0 2583 76 10 11 48 1 6 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0002 0/0 2583 58 7 17 18 2 14 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0003 0/0 2583 55 10 1 41 0 3 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0004 0/0 2583 49 23 3 20 0 3 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0006 0/0 2583 22 7 6 6 0 3 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0007 1/1 2583 21 4 2 7 3 3 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0008 0/0 2583 17 4 8 0 2 3 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0009 0/0 2583 5 0 3 1 0 1 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0010 0/0 2583 4 0 0 0 0 4 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0012 0/0 2583 3 0 0 3 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0013 0/0 2583 3 3 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0015 0/0 2583 2 2 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0016 0/0 2583 2 0 0 2 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0017 0/0 2583 2 0 0 2 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0018 0/0 2583 2 2 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0020 0/0 2583 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0021 0/0 2583 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0022 0/0 2583 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0023 0/0 2583 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0026 0/0 2583 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0027 0/0 2583 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0002c0005 0/0 2583 23 15 6 0 2 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0002c0025 0/0 2583 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0003c0011 0/0 2583 3 0 0 3 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0004c0014 0/0 2583 2 2 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0005c0019 0/0 2583 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0006c0024 0/0 2583 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 0/0 5172 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0001t0005 0/0 5175 12 0 5 6 0 1 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0001t0007 0/0 5175 23 0 1 21 0 1 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0001t0010 0/0 5175 8 0 2 3 1 2 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0001t0011 0/0 5176 5 0 2 2 0 1 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0001t0012 0/0 5176 4 0 0 4 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0001t0013 0/0 5177 4 4 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0001t0015 0/0 5173 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0001t0016 0/0 5175 3 0 0 3 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0001t0021 0/0 5171 3 3 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0001t0022 0/0 5176 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0001t0023 0/0 5178 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0001t0027 0/0 5176 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0001t0028 0/0 5172 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0001t0029 0/0 5178 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0001t0030 0/0 5176 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0001t0031 0/0 5175 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0001t0032 0/0 5177 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0001t0033 0/0 5171 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0001t0034 0/0 5175 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0001t0035 0/0 5175 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0001t0037 0/0 5175 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0002t0001 0/0 5172 45 4 16 12 2 11 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0002t0006 0/0 5172 3 3 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0002t0012 0/0 5176 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0002t0014 0/0 5175 4 0 0 3 0 1 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0002t0015 0/0 5173 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0002t0042 0/0 5172 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0002t0043 0/0 5174 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0002t0044 0/0 5172 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0002t0045 0/0 5172 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0003t0001 0/0 5172 6 0 0 6 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0003t0003 0/0 5171 28 6 0 20 0 2 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0003t0005 0/0 5175 7 0 1 5 0 1 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0003t0006 0/0 5172 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0003t0013 0/0 5177 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0003t0022 0/0 5176 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0003t0023 0/0 5178 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0003t0025 0/0 5171 2 2 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0003t0026 0/0 5177 2 0 0 2 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0003t0053 0/0 5171 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0003t0054 0/0 5171 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0003t0055 0/0 5171 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0003t0057 0/0 5171 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0003t0058 0/0 5171 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0003t0059 0/0 5171 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0004t0001 0/0 5172 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0004t0003 0/0 5171 2 1 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0004t0004 0/0 5172 22 5 0 14 0 3 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0004t0005 0/0 5175 2 1 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0004t0006 0/0 5172 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0004t0009 0/0 5171 12 10 2 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0004t0018 0/0 5173 3 0 0 3 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0004t0019 0/0 5171 2 2 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0004t0036 0/0 5171 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0004t0038 0/0 5172 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0004t0039 0/0 5172 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0004t0046 0/0 5171 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0006t0005 0/0 5175 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0006t0006 0/0 5172 17 4 6 5 0 2 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0006t0048 0/0 5171 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0006t0049 0/0 5171 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0006t0050 0/0 5172 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0006t0051 0/0 5174 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0007t0001 0/1 5172 4 0 2 0 1 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0007t0002 1/0 5173 12 1 0 6 2 2 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0007t0020 0/0 5171 3 3 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0007t0041 0/0 5173 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0007t0052 0/0 5174 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0008t0008 0/0 5171 16 4 8 0 2 2 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0008t0047 0/0 5172 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0009t0001 0/0 5172 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0009t0017 0/0 5172 3 0 3 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0009t0040 0/0 5172 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0010t0005 0/0 5175 2 0 0 0 0 2 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0010t0010 0/0 5175 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0010t0011 0/0 5176 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0012t0001 0/0 5172 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0012t0015 0/0 5173 2 0 0 2 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0013t0004 0/0 5172 2 2 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0013t0009 0/0 5171 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0015t0002 0/0 5173 2 2 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0016t0001 0/0 5172 2 0 0 2 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0017t0001 0/0 5172 2 0 0 2 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0018t0024 0/0 5174 2 2 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0020t0056 0/0 5173 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0021t0008 0/0 5171 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0022t0005 0/0 5175 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0023t0003 0/0 5171 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0026t0008 0/0 5171 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0001c0027t0003 0/0 5171 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0002c0005t0002 0/0 5173 20 13 5 0 2 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0002c0005t0008 0/0 5171 3 2 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0002c0025t0002 0/0 5173 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0003c0011t0006 0/0 5172 3 0 0 3 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0004c0014t0004 0/0 5172 2 2 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0005c0019t0007 0/0 5175 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820
a0006c0024t0019 0/0 5171 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR copy fasta chr19 11084463 11138820

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0297 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0005g0007 0/0 2 0 2 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0005g0060 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0005g0102 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0005g0162 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0005g0172 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0005g0179 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0005g0184 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0005g0192 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0005g0240 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0005g0249 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0005g0258 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0007g0069 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0007g0070 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0007g0078 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0007g0079 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0007g0100 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0007g0101 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0007g0105 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0007g0106 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0007g0134 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0007g0157 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0007g0171 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0007g0176 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0007g0250 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0007g0251 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0007g0262 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0007g0273 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0007g0303 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0007g0304 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0007g0305 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0007g0306 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0007g0307 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0007g0308 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0007g0310 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0010g0072 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0010g0217 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0010g0239 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0010g0244 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0010g0245 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0010g0248 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0010g0259 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0010g0265 0/0 1 0 0 0 1 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0011g0073 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0011g0156 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0011g0242 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0011g0246 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0011g0254 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0012g0071 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0012g0136 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0012g0158 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0012g0161 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0013g0050 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0013g0053 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0013g0054 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0013g0319 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0015g0298 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0016g0104 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0016g0108 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0016g0109 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0021g0008 0/0 2 2 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0021g0267 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0022g0243 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0023g0051 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0027g0103 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0028g0107 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0029g0132 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0030g0159 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0031g0333 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0032g0216 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0033g0182 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0034g0185 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0035g0020 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0001t0037g0166 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0001g0005 0/0 2 0 1 0 1 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0001g0006 0/0 2 0 1 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0001g0018 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0001g0066 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0001g0075 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0001g0085 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0001g0086 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0001g0130 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0001g0186 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0001g0200 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0001g0201 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0001g0206 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0001g0210 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0001g0213 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0001g0218 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0001g0220 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0001g0222 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0001g0223 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0001g0225 0/0 1 0 0 0 1 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0001g0226 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0001g0227 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0001g0228 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0001g0229 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0001g0230 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0001g0231 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0001g0232 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0001g0233 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0001g0234 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0001g0235 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0001g0236 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0001g0247 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0001g0252 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0001g0255 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0001g0257 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0001g0260 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0001g0261 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0001g0270 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0001g0299 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0001g0300 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0001g0313 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0001g0314 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0001g0315 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0001g0316 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0006g0043 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0006g0114 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0006g0276 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0012g0059 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0014g0207 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0014g0211 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0014g0212 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0014g0253 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0015g0195 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0042g0160 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0043g0076 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0044g0256 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0002t0045g0221 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0001g0001 0/0 3 0 0 3 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0001g0153 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0001g0202 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0001g0269 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0003g0021 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0003g0030 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0003g0032 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0003g0068 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0003g0115 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0003g0116 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0003g0119 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0003g0121 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0003g0122 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0003g0124 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0003g0126 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0003g0128 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0003g0131 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0003g0143 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0003g0154 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0003g0163 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0003g0164 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0003g0203 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0003g0204 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0003g0205 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0003g0272 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0003g0288 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0003g0289 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0003g0290 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0003g0292 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0003g0295 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0003g0302 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0003g0334 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0005g0137 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0005g0138 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0005g0140 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0005g0141 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0005g0142 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0005g0148 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0005g0294 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0006g0031 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0013g0139 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0022g0150 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0023g0149 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0025g0022 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0025g0135 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0026g0064 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0026g0237 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0053g0123 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0054g0125 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0055g0320 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0057g0127 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0058g0293 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0003t0059g0129 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0001g0095 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0003g0014 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0003g0063 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0004g0048 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0004g0067 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0004g0080 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0004g0087 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0004g0088 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0004g0089 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0004g0090 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0004g0091 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0004g0092 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0004g0093 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0004g0096 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0004g0097 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0004g0099 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0004g0110 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0004g0111 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0004g0196 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0004g0278 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0004g0279 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0004g0280 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0004g0281 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0004g0282 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0004g0285 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0005g0042 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0005g0238 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0006g0145 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0009g0003 0/0 2 1 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0009g0010 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0009g0011 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0009g0045 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0009g0144 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0009g0146 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0009g0147 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0009g0151 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0009g0152 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0009g0283 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0009g0284 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0018g0120 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0018g0168 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0018g0187 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0019g0117 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0019g0118 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0036g0033 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0038g0036 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0039g0094 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0004t0046g0046 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0006t0005g0052 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0006t0006g0037 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0006t0006g0038 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0006t0006g0061 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0006t0006g0077 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0006t0006g0083 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0006t0006g0098 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0006t0006g0266 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0006t0006g0309 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0006t0006g0324 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0006t0006g0325 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0006t0006g0326 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0006t0006g0327 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0006t0006g0329 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0006t0006g0330 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0006t0006g0331 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0006t0006g0332 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0006t0006g0335 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0006t0048g0016 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0006t0049g0062 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0006t0050g0311 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0006t0051g0337 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0007t0001g0165 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0007t0001g0180 0/0 1 0 0 0 1 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0007t0001g0181 0/1 1 0 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0007t0001g0224 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0007t0002g0058 1/0 1 0 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0007t0002g0169 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0007t0002g0170 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0007t0002g0173 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0007t0002g0188 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0007t0002g0189 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0007t0002g0191 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0007t0002g0199 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0007t0002g0241 0/0 1 0 0 0 1 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0007t0002g0271 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0007t0002g0301 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0007t0002g0312 0/0 1 0 0 0 1 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0007t0020g0035 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0007t0020g0318 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0007t0020g0321 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0007t0041g0193 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0007t0052g0177 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0008t0008g0002 0/0 3 0 1 0 1 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0008t0008g0013 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0008t0008g0019 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0008t0008g0029 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0008t0008g0065 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0008t0008g0167 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0008t0008g0174 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0008t0008g0175 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0008t0008g0178 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0008t0008g0183 0/0 1 0 0 0 1 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0008t0008g0194 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0008t0008g0214 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0008t0008g0215 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0008t0008g0296 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0008t0047g0190 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0009t0001g0017 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0009t0017g0004 0/0 2 0 2 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0009t0017g0268 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0009t0040g0027 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0010t0005g0023 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0010t0005g0025 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0010t0010g0024 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0010t0011g0026 0/0 1 0 0 0 0 1 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0012t0001g0209 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0012t0015g0208 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0012t0015g0219 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0013t0004g0041 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0013t0004g0338 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0013t0009g0339 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0015t0002g0049 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0015t0002g0055 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0016t0001g0081 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0016t0001g0082 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0017t0001g0015 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0017t0001g0274 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0018t0024g0047 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0018t0024g0322 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0020t0056g0264 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0021t0008g0287 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0022t0005g0084 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0023t0003g0291 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0026t0008g0348 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0001c0027t0003g0275 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0002c0005t0002g0009 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0002c0005t0002g0012 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0002c0005t0002g0028 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0002c0005t0002g0034 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0002c0005t0002g0039 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0002c0005t0002g0057 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0002c0005t0002g0074 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0002c0005t0002g0155 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0002c0005t0002g0197 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0002c0005t0002g0198 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0002c0005t0002g0263 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0002c0005t0002g0286 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0002c0005t0002g0317 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0002c0005t0002g0340 0/0 1 0 0 0 1 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0002c0005t0002g0341 0/0 1 0 0 0 1 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0002c0005t0002g0342 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0002c0005t0002g0343 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0002c0005t0002g0344 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0002c0005t0002g0345 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0002c0005t0002g0347 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0002c0005t0008g0040 0/0 1 0 1 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0002c0005t0008g0044 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0002c0005t0008g0277 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0002c0025t0002g0056 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0003c0011t0006g0323 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0003c0011t0006g0328 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0003c0011t0006g0336 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0004c0014t0004g0112 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0004c0014t0004g0113 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0005c0019t0007g0133 0/0 1 0 0 1 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
a0006c0024t0019g0346 0/0 1 1 0 0 0 0 LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00099 hp1 a0001 c0007 t0001 g0180 EUR GBR LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG00099 hp2 a0001 c0002 t0001 g0005 EUR GBR LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG00323 hp1 a0001 c0007 t0002 g0241 EUR FIN LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG00323 hp2 a0001 c0007 t0002 g0312 EUR FIN LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG00408 hp1 a0001 c0003 t0026 g0237 EAS CHS LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG00408 hp2 a0001 c0004 t0039 g0094 EAS CHS LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG00423 hp1 a0001 c0016 t0001 g0082 EAS CHS LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG00423 hp2 a0001 c0003 t0003 g0126 EAS CHS LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG00438 hp1 a0001 c0007 t0002 g0301 EAS CHS LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG00438 hp2 a0001 c0002 t0001 g0186 EAS CHS LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG00544 hp1 a0001 c0003 t0059 g0129 EAS CHS LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG00544 hp2 a0001 c0004 t0004 g0111 EAS CHS LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG00558 hp1 a0001 c0003 t0003 g0128 EAS CHS LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG00558 hp2 a0001 c0001 t0033 g0182 EAS CHS LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG00597 hp1 a0001 c0003 t0026 g0064 EAS CHS LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG00597 hp2 a0001 c0001 t0007 g0176 EAS CHS LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG00621 hp1 a0001 c0003 t0003 g0288 EAS CHS LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG00621 hp2 a0001 c0001 t0005 g0172 EAS CHS LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG00642 hp1 a0001 c0009 t0017 g0004 AMR PUR LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG00642 hp2 a0001 c0001 t0011 g0246 AMR PUR LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG00673 hp1 a0001 c0001 t0012 g0158 EAS CHS LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG00673 hp2 a0001 c0001 t0022 g0243 EAS CHS LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG00733 hp1 a0001 c0001 t0005 g0102 AMR PUR LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG00733 hp2 a0001 c0002 t0001 g0234 AMR PUR LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG00735 hp1 a0001 c0001 t0005 g0179 AMR PUR LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG00735 hp2 a0001 c0002 t0001 g0227 AMR PUR LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG00738 hp1 a0001 c0002 t0001 g0226 AMR PUR LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG00738 hp2 a0002 c0005 t0002 g0347 AMR PUR LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01069 hp1 a0002 c0005 t0002 g0343 AMR PUR LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01069 hp2 a0001 c0001 t0010 g0244 AMR PUR LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01071 hp1 a0001 c0002 t0001 g0006 AMR PUR LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01071 hp2 a0002 c0005 t0002 g0342 AMR PUR LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01074 hp1 a0001 c0001 t0005 g0007 AMR PUR LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01074 hp2 a0001 c0008 t0008 g0002 AMR PUR LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01081 hp1 a0001 c0006 t0006 g0325 AMR PUR LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01081 hp2 a0001 c0007 t0001 g0165 AMR PUR LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01099 hp1 a0001 c0001 t0011 g0242 AMR PUR LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01099 hp2 a0001 c0007 t0001 g0224 AMR PUR LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01106 hp1 a0001 c0006 t0006 g0329 AMR PUR LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01106 hp2 a0001 c0002 t0001 g0232 AMR PUR LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01109 hp1 a0001 c0009 t0017 g0268 AMR PUR LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01109 hp2 a0001 c0004 t0009 g0152 AMR PUR LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01167 hp1 a0001 c0008 t0008 g0296 AMR PUR LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01167 hp2 a0001 c0006 t0006 g0327 AMR PUR LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01168 hp1 a0001 c0008 t0008 g0178 AMR PUR LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01168 hp2 a0001 c0001 t0005 g0249 AMR PUR LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01169 hp1 a0001 c0001 t0005 g0007 AMR PUR LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01169 hp2 a0001 c0006 t0006 g0324 AMR PUR LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01175 hp1 a0001 c0002 t0001 g0220 AMR PUR LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01175 hp2 a0001 c0008 t0008 g0167 AMR PUR LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01255 hp1 a0001 c0002 t0001 g0206 AMR CLM LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01255 hp2 a0002 c0005 t0002 g0345 AMR CLM LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01256 hp1 a0001 c0002 t0001 g0213 AMR CLM LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01256 hp2 a0001 c0002 t0001 g0313 AMR CLM LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01257 hp1 a0001 c0002 t0001 g0223 AMR CLM LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01257 hp2 a0001 c0008 t0008 g0194 AMR CLM LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01261 hp1 a0001 c0026 t0008 g0348 AMR CLM LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01261 hp2 a0001 c0001 t0007 g0078 AMR CLM LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01358 hp1 a0002 c0005 t0002 g0344 AMR CLM LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01358 hp2 a0001 c0002 t0001 g0255 AMR CLM LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01496 hp1 a0001 c0008 t0008 g0175 AMR CLM LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01496 hp2 a0001 c0006 t0006 g0083 AMR CLM LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01516 hp1 a0001 c0008 t0008 g0183 EUR IBS LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01516 hp2 a0002 c0005 t0002 g0340 EUR IBS LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01517 hp1 a0002 c0005 t0002 g0341 EUR IBS LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01517 hp2 a0001 c0001 t0010 g0265 EUR IBS LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01884 hp1 a0001 c0007 t0020 g0321 AFR ACB LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01884 hp2 a0001 c0001 t0013 g0054 AFR ACB LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01891 hp1 a0001 c0004 t0004 g0281 AFR ACB LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01891 hp2 a0004 c0014 t0004 g0112 AFR ACB LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01928 hp1 a0001 c0001 t0010 g0239 AMR PEL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01928 hp2 a0001 c0002 t0001 g0222 AMR PEL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01934 hp1 a0002 c0005 t0008 g0040 AMR PEL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01934 hp2 a0001 c0020 t0056 g0264 AMR PEL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01952 hp1 a0001 c0004 t0009 g0003 AMR PEL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01952 hp2 a0001 c0002 t0044 g0256 AMR PEL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01975 hp1 a0001 c0006 t0006 g0335 AMR PEL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01975 hp2 a0001 c0009 t0017 g0004 AMR PEL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01981 hp1 a0001 c0003 t0005 g0138 AMR PEL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG01981 hp2 a0001 c0008 t0008 g0174 AMR PEL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02004 hp1 a0001 c0002 t0001 g0005 AMR PEL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02004 hp2 a0001 c0004 t0005 g0238 AMR PEL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02015 hp1 a0001 c0004 t0004 g0087 EAS KHV LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02015 hp2 a0001 c0001 t0010 g0248 EAS KHV LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02055 hp1 a0001 c0002 t0006 g0276 AFR ACB LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02055 hp2 a0001 c0004 t0006 g0145 AFR ACB LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02056 hp1 a0001 c0021 t0008 g0287 EAS KHV LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02056 hp2 a0001 c0003 t0001 g0269 EAS KHV LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02074 hp1 a0001 c0006 t0051 g0337 EAS KHV LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02074 hp2 a0001 c0003 t0003 g0124 EAS KHV LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02080 hp1 a0001 c0007 t0002 g0199 EAS KHV LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02080 hp2 a0001 c0001 t0007 g0157 EAS KHV LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02083 hp1 a0001 c0002 t0001 g0260 EAS KHV LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02083 hp2 a0001 c0009 t0001 g0017 EAS KHV LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02129 hp1 a0001 c0002 t0045 g0221 EAS KHV LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02129 hp2 a0001 c0004 t0004 g0196 EAS KHV LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02145 hp1 a0001 c0004 t0003 g0014 AFR ACB LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02145 hp2 a0002 c0005 t0002 g0286 AFR ACB LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02148 hp1 a0001 c0022 t0005 g0084 AMR PEL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02148 hp2 a0001 c0002 t0001 g0233 AMR PEL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02155 hp1 a0001 c0001 t0007 g0105 EAS CDX LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02155 hp2 a0001 c0003 t0001 g0001 EAS CDX LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02165 hp1 a0001 c0003 t0058 g0293 EAS CDX LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02165 hp2 a0001 c0002 t0001 g0230 EAS CDX LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02257 hp1 a0001 c0004 t0004 g0285 AFR ACB LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02257 hp2 a0001 c0006 t0049 g0062 AFR ACB LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02258 hp1 a0001 c0001 t0023 g0051 AFR ACB LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02258 hp2 a0001 c0002 t0001 g0229 AFR ACB LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02273 hp1 a0001 c0002 t0001 g0085 AMR PEL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02273 hp2 a0001 c0001 t0032 g0216 AMR PEL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02280 hp1 a0001 c0004 t0009 g0010 AFR ACB LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02280 hp2 a0002 c0025 t0002 g0056 AFR ACB LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02300 hp1 a0001 c0002 t0001 g0086 AMR PEL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02300 hp2 a0001 c0008 t0008 g0215 AMR PEL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02451 hp1 a0001 c0008 t0008 g0029 AFR ACB LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02451 hp2 a0002 c0005 t0002 g0028 AFR ACB LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02523 hp1 a0001 c0001 t0007 g0070 EAS KHV LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02523 hp2 a0001 c0004 t0001 g0095 EAS KHV LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02602 hp1 a0001 c0003 t0005 g0294 SAS PJL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02602 hp2 a0001 c0001 t0011 g0254 SAS PJL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02615 hp1 a0001 c0004 t0009 g0003 AFR GWD LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02615 hp2 a0001 c0004 t0005 g0042 AFR GWD LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02622 hp1 a0002 c0005 t0002 g0057 AFR GWD LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02622 hp2 a0002 c0005 t0002 g0263 AFR GWD LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02630 hp1 a0001 c0006 t0005 g0052 AFR GWD LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02630 hp2 a0001 c0001 t0021 g0008 AFR GWD LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02647 hp1 a0001 c0001 t0013 g0053 AFR GWD LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02647 hp2 a0001 c0004 t0004 g0067 AFR GWD LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02698 hp1 a0001 c0010 t0005 g0023 SAS PJL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02698 hp2 a0001 c0001 t0031 g0333 SAS PJL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02717 hp1 a0001 c0015 t0002 g0055 AFR GWD LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02717 hp2 a0001 c0004 t0009 g0045 AFR GWD LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02723 hp1 a0001 c0018 t0024 g0322 AFR GWD LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02723 hp2 a0001 c0001 t0013 g0050 AFR GWD LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02735 hp1 a0001 c0004 t0004 g0278 SAS PJL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02735 hp2 a0001 c0002 t0001 g0235 SAS PJL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02738 hp1 a0001 c0006 t0006 g0332 SAS PJL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02738 hp2 a0001 c0002 t0015 g0195 SAS PJL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02809 hp1 a0001 c0001 t0035 g0020 AFR GWD LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02809 hp2 a0001 c0003 t0003 g0163 AFR GWD LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02818 hp1 a0002 c0005 t0008 g0277 AFR GWD LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02818 hp2 a0001 c0002 t0001 g0252 AFR GWD LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02886 hp1 a0001 c0004 t0009 g0146 AFR GWD LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02886 hp2 a0002 c0005 t0002 g0034 AFR GWD LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02895 hp1 a0001 c0004 t0019 g0118 AFR GWD LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02895 hp2 a0001 c0006 t0048 g0016 AFR GWD LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02896 hp1 a0001 c0003 t0003 g0032 AFR GWD LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02896 hp2 a0001 c0004 t0004 g0282 AFR GWD LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02897 hp1 a0001 c0004 t0019 g0117 AFR GWD LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02897 hp2 a0001 c0003 t0003 g0030 AFR GWD LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02922 hp1 a0001 c0013 t0004 g0338 AFR ESN LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02922 hp2 a0001 c0006 t0006 g0037 AFR ESN LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02965 hp1 a0001 c0002 t0006 g0043 AFR ESN LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02965 hp2 a0001 c0004 t0038 g0036 AFR ESN LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02970 hp1 a0001 c0007 t0020 g0318 AFR ESN LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02970 hp2 a0001 c0004 t0009 g0284 AFR ESN LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02976 hp1 a0004 c0014 t0004 g0113 AFR ESN LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02976 hp2 a0001 c0006 t0006 g0061 AFR ESN LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03017 hp1 a0001 c0001 t0007 g0262 SAS PJL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03017 hp2 a0001 c0006 t0050 g0311 SAS PJL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03041 hp1 a0002 c0005 t0002 g0197 AFR GWD LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03041 hp2 a0001 c0001 t0021 g0267 AFR GWD LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03098 hp1 a0001 c0004 t0009 g0144 AFR MSL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03098 hp2 a0001 c0027 t0003 g0275 AFR MSL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03130 hp1 a0001 c0003 t0003 g0021 AFR ESN LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03130 hp2 a0001 c0003 t0025 g0022 AFR ESN LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03139 hp1 a0001 c0004 t0009 g0151 AFR ESN LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03139 hp2 a0001 c0008 t0008 g0065 AFR ESN LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03195 hp1 a0001 c0004 t0009 g0011 AFR ESN LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03195 hp2 a0001 c0006 t0006 g0266 AFR ESN LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03209 hp1 a0001 c0001 t0013 g0319 AFR MSL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03209 hp2 a0001 c0004 t0009 g0147 AFR MSL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03225 hp1 a0001 c0006 t0006 g0038 AFR MSL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03225 hp2 a0001 c0003 t0055 g0320 AFR MSL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03239 hp1 a0001 c0002 t0001 g0200 SAS PJL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03239 hp2 a0001 c0002 t0001 g0218 SAS PJL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03453 hp1 a0001 c0013 t0009 g0339 AFR MSL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03453 hp2 a0002 c0005 t0002 g0009 AFR MSL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03490 hp1 a0001 c0004 t0004 g0280 SAS PJL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03490 hp2 a0001 c0002 t0001 g0201 SAS PJL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03516 hp1 a0001 c0003 t0003 g0164 AFR ESN LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03516 hp2 a0001 c0015 t0002 g0049 AFR ESN LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03540 hp1 a0001 c0013 t0004 g0041 AFR GWD LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03540 hp2 a0001 c0003 t0003 g0119 AFR GWD LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03579 hp1 a0001 c0018 t0024 g0047 AFR MSL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03579 hp2 a0006 c0024 t0019 g0346 AFR MSL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03654 hp1 a0001 c0001 t0005 g0060 SAS PJL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03654 hp2 a0001 c0004 t0004 g0279 SAS PJL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03669 hp1 a0001 c0008 t0008 g0214 SAS PJL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03669 hp2 a0001 c0009 t0040 g0027 SAS PJL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03688 hp1 a0001 c0001 t0010 g0217 SAS STU LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03688 hp2 a0001 c0003 t0003 g0289 SAS STU LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03704 hp1 a0001 c0010 t0010 g0024 SAS PJL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03704 hp2 a0001 c0006 t0006 g0330 SAS PJL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03710 hp1 a0001 c0002 t0001 g0314 SAS PJL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03710 hp2 a0001 c0002 t0001 g0075 SAS PJL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03831 hp1 a0001 c0010 t0011 g0026 SAS BEB LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03831 hp2 a0001 c0002 t0001 g0299 SAS BEB LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03834 hp1 a0001 c0008 t0008 g0002 SAS BEB LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03834 hp2 a0001 c0002 t0001 g0018 SAS BEB LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03942 hp1 a0001 c0003 t0003 g0334 SAS BEB LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03942 hp2 a0001 c0008 t0047 g0190 SAS BEB LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG04115 hp1 a0001 c0007 t0002 g0189 SAS STU LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG04115 hp2 a0001 c0002 t0014 g0207 SAS STU LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG04184 hp1 a0001 c0002 t0001 g0270 SAS BEB LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG04184 hp2 a0001 c0007 t0002 g0271 SAS BEB LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG04204 hp1 a0001 c0002 t0043 g0076 SAS STU LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG04204 hp2 a0001 c0010 t0005 g0025 SAS STU LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG04228 hp1 a0001 c0007 t0041 g0193 SAS STU LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG04228 hp2 a0001 c0002 t0001 g0316 SAS STU LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18522 hp1 a0001 c0004 t0036 g0033 AFR YRI LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18522 hp2 a0002 c0005 t0002 g0317 AFR YRI LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18747 hp1 a0001 c0001 t0034 g0185 EAS CHB LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18747 hp2 a0001 c0001 t0007 g0079 EAS CHB LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18906 hp1 a0002 c0005 t0002 g0155 AFR YRI LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18906 hp2 a0001 c0008 t0008 g0013 AFR YRI LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18939 hp1 a0001 c0004 t0004 g0092 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18939 hp2 a0001 c0003 t0003 g0122 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18940 hp1 a0001 c0006 t0006 g0331 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18940 hp2 a0001 c0001 t0029 g0132 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18941 hp1 a0001 c0003 t0054 g0125 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18941 hp2 a0001 c0004 t0004 g0110 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18942 hp1 a0001 c0001 t0007 g0251 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18942 hp2 a0001 c0003 t0003 g0203 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18943 hp1 a0001 c0003 t0023 g0149 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18943 hp2 a0001 c0007 t0002 g0170 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18945 hp1 a0001 c0003 t0003 g0121 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18945 hp2 a0005 c0019 t0007 g0133 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18948 hp1 a0001 c0003 t0003 g0204 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18948 hp2 a0001 c0002 t0001 g0130 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18950 hp1 a0001 c0001 t0005 g0258 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18950 hp2 a0001 c0004 t0004 g0088 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18951 hp1 a0001 c0023 t0003 g0291 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18951 hp2 a0001 c0002 t0001 g0300 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18952 hp1 a0001 c0003 t0003 g0116 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18952 hp2 a0001 c0017 t0001 g0274 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18953 hp1 a0001 c0001 t0007 g0305 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18953 hp2 a0001 c0002 t0001 g0236 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18954 hp1 a0001 c0001 t0007 g0306 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18954 hp2 a0001 c0006 t0006 g0077 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18957 hp1 a0001 c0004 t0018 g0120 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18957 hp2 a0001 c0001 t0027 g0103 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18961 hp1 a0001 c0002 t0012 g0059 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18961 hp2 a0001 c0001 t0015 g0298 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18962 hp1 a0001 c0002 t0001 g0210 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18962 hp2 a0001 c0001 t0007 g0106 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18964 hp1 a0001 c0001 t0010 g0245 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18964 hp2 a0001 c0003 t0003 g0205 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18966 hp1 a0001 c0016 t0001 g0081 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18966 hp2 a0001 c0001 t0005 g0240 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18967 hp1 a0001 c0003 t0003 g0115 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18967 hp2 a0001 c0007 t0002 g0188 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18968 hp1 a0001 c0002 t0014 g0212 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18968 hp2 a0001 c0003 t0005 g0137 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18969 hp1 a0001 c0004 t0004 g0090 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18969 hp2 a0001 c0001 t0007 g0134 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18971 hp1 a0001 c0003 t0057 g0127 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18971 hp2 a0001 c0003 t0001 g0001 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18973 hp1 a0001 c0006 t0006 g0309 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18973 hp2 a0001 c0001 t0016 g0109 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18975 hp1 a0001 c0001 t0012 g0136 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18975 hp2 a0001 c0003 t0001 g0202 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18979 hp1 a0001 c0003 t0003 g0272 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18979 hp2 a0001 c0007 t0002 g0191 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18980 hp1 a0001 c0004 t0018 g0168 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18980 hp2 a0001 c0001 t0007 g0307 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18983 hp1 a0001 c0006 t0006 g0326 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18983 hp2 a0001 c0001 t0007 g0101 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18985 hp1 a0003 c0011 t0006 g0328 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18985 hp2 a0001 c0004 t0004 g0096 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18986 hp1 a0001 c0003 t0003 g0068 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18986 hp2 a0001 c0003 t0013 g0139 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18989 hp1 a0001 c0004 t0004 g0080 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18989 hp2 a0001 c0003 t0003 g0295 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18990 hp1 a0001 c0004 t0004 g0091 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18990 hp2 a0001 c0001 t0016 g0108 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18992 hp1 a0001 c0002 t0001 g0247 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18992 hp2 a0001 c0007 t0052 g0177 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18993 hp1 a0001 c0003 t0022 g0150 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18993 hp2 a0001 c0001 t0007 g0303 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18995 hp1 a0001 c0001 t0012 g0161 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18995 hp2 a0001 c0002 t0014 g0253 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18998 hp1 a0001 c0001 t0007 g0310 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA18998 hp2 a0001 c0001 t0007 g0273 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19000 hp1 a0001 c0001 t0010 g0072 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19000 hp2 a0001 c0001 t0012 g0071 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19001 hp1 a0001 c0012 t0001 g0209 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19001 hp2 a0001 c0002 t0042 g0160 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19002 hp1 a0001 c0003 t0005 g0141 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19002 hp2 a0001 c0003 t0003 g0154 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19004 hp1 a0001 c0004 t0004 g0089 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19004 hp2 a0001 c0003 t0005 g0142 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19005 hp1 a0001 c0001 t0005 g0192 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19005 hp2 a0001 c0003 t0001 g0001 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19007 hp1 a0001 c0003 t0003 g0131 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19007 hp2 a0001 c0003 t0003 g0290 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19009 hp1 a0001 c0001 t0007 g0308 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19009 hp2 a0001 c0017 t0001 g0015 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19010 hp1 a0001 c0003 t0003 g0302 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19010 hp2 a0001 c0004 t0004 g0093 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19011 hp1 a0001 c0001 t0016 g0104 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19011 hp2 a0001 c0006 t0006 g0098 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19012 hp1 a0001 c0004 t0004 g0097 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19012 hp2 a0001 c0004 t0018 g0187 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19043 hp1 a0001 c0007 t0020 g0035 AFR LWK LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19043 hp2 a0001 c0008 t0008 g0019 AFR LWK LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19056 hp1 a0001 c0002 t0001 g0228 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19056 hp2 a0001 c0003 t0005 g0140 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19058 hp1 a0003 c0011 t0006 g0336 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19058 hp2 a0001 c0001 t0007 g0304 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19064 hp1 a0001 c0007 t0002 g0169 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19064 hp2 a0001 c0003 t0001 g0153 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19065 hp1 a0001 c0012 t0015 g0208 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19065 hp2 a0001 c0001 t0007 g0069 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19066 hp1 a0001 c0002 t0001 g0231 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19066 hp2 a0001 c0001 t0030 g0159 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19067 hp1 a0001 c0004 t0004 g0099 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19067 hp2 a0001 c0001 t0007 g0100 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19068 hp1 a0001 c0004 t0003 g0063 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19068 hp2 a0001 c0001 t0011 g0156 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19070 hp1 a0001 c0001 t0007 g0171 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19070 hp2 a0001 c0002 t0001 g0006 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19074 hp1 a0001 c0003 t0053 g0123 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19074 hp2 a0001 c0001 t0005 g0162 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19079 hp1 a0001 c0001 t0007 g0250 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19079 hp2 a0003 c0011 t0006 g0323 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19080 hp1 a0001 c0001 t0011 g0073 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19080 hp2 a0001 c0003 t0003 g0292 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19083 hp1 a0001 c0001 t0028 g0107 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19083 hp2 a0001 c0003 t0005 g0148 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19085 hp1 a0001 c0003 t0003 g0143 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19085 hp2 a0001 c0002 t0001 g0066 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19088 hp1 a0001 c0001 t0005 g0184 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19088 hp2 a0001 c0001 t0001 g0297 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19091 hp1 a0001 c0002 t0014 g0211 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19091 hp2 a0001 c0012 t0015 g0219 EAS JPT LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19240 hp1 a0001 c0004 t0046 g0046 AFR YRI LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA19240 hp2 a0002 c0005 t0002 g0198 AFR YRI LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA20129 hp1 a0001 c0004 t0004 g0048 AFR ASW LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA20129 hp2 a0001 c0002 t0006 g0114 AFR ASW LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA20805 hp1 a0001 c0002 t0001 g0225 EUR TSI LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA20805 hp2 a0001 c0008 t0008 g0002 EUR TSI LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA20905 hp1 a0001 c0001 t0010 g0259 SAS GIH LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA20905 hp2 a0001 c0002 t0001 g0261 SAS GIH LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02486 hp1 a0001 c0004 t0009 g0283 AFR ACB LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02486 hp2 a0001 c0003 t0006 g0031 AFR ACB LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02559 hp1 a0002 c0005 t0002 g0012 AFR ACB LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG02559 hp2 a0001 c0001 t0021 g0008 AFR ACB LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03471 hp1 a0001 c0001 t0037 g0166 AFR MSL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG03471 hp2 a0002 c0005 t0002 g0039 AFR MSL LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG06807 hp1 a0001 c0003 t0025 g0135 AFR USA LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
HG06807 hp2 a0001 c0002 t0001 g0257 AFR USA LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA20300 hp1 a0002 c0005 t0008 g0044 AFR USA LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA20300 hp2 a0002 c0005 t0002 g0074 AFR USA LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA21309 hp1 a0001 c0007 t0002 g0173 AFR LWK LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
NA21309 hp2 a0001 c0002 t0001 g0315 AFR LWK LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
homoSapiens_chm13v2 hp1 a0001 c0007 t0001 g0181 REF REF LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820
homoSapiens_grch38 hp1 a0001 c0007 t0002 g0058 REF REF LDLR_chr19_11084463_11138820 LDLR chr19 11084463 11138820

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
chr19:11105415 A
A
 G
G
 1 a0006
a0006
 1 HG03579.hp2
HG03579.hp2
 missense_variant MODERATE c.509A>G
c.509A>G
 p.Asp170Gly
p.Asp170Gly
 LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 4/18 595/5173 509/2583 170/860 chr19 11105415
chr19:11110681 G
G
 A
A
 1 a0004
a0004
 2 HG01891.hp2
HG02976.hp1
HG01891.hp2
HG02976.hp1
 missense_variant MODERATE c.970G>A
c.970G>A
 p.Gly324Ser
p.Gly324Ser
 LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 7/18 1056/5173 970/2583 324/860 chr19 11110681
chr19:11111624 G
G
 A
A
 1 a0002
a0002
 24 HG00738.hp2
HG01069.hp1
HG01071.hp2
others(21): Show 
HG00738.hp2
HG01069.hp1
HG01071.hp2
HG01255.hp2
HG01358.hp1
HG01516.hp2
HG01517.hp1
HG01934.hp1
HG02145.hp2
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02818.hp1
HG02886.hp2
HG03041.hp1
HG03453.hp2
HG03471.hp2
NA18522.hp2
NA18906.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
 missense_variant MODERATE c.1171G>A
c.1171G>A
 p.Ala391Thr
p.Ala391Thr
 LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 8/18 1257/5173 1171/2583 391/860 chr19 11111624
chr19:11113722 G
G
 A
A
 1 a0005
a0005
 1 NA18945.hp2
NA18945.hp2
 missense_variant MODERATE c.1546G>A
c.1546G>A
 p.Gly516Ser
p.Gly516Ser
 LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 10/18 1632/5173 1546/2583 516/860 chr19 11113722
chr19:11131312 C
C
 T
T
 1 a0003
a0003
 3 NA18985.hp1
NA19058.hp1
NA19079.hp2
NA18985.hp1
NA19058.hp1
NA19079.hp2
 missense_variant MODERATE c.2579C>T
c.2579C>T
 p.Ala860Val
p.Ala860Val
 LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 2665/5173 2579/2583 860/860 chr19 11131312

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
chr19:11100236 C
C
 T
T
 5 a0001c0009
a0001c0010
a0001c0026
others(2): Show 
a0001c0009
a0001c0010
a0001c0026
a0001c0027
a0002c0025
 12 HG00642.hp1
HG01109.hp1
HG01261.hp1
others(9): Show 
HG00642.hp1
HG01109.hp1
HG01261.hp1
HG01975.hp2
HG02083.hp2
HG02280.hp2
HG02698.hp1
HG03098.hp2
HG03669.hp2
HG03704.hp1
HG03831.hp1
HG04204.hp2
 synonymous_variant LOW c.81C>T
c.81C>T
 p.Cys27Cys
p.Cys27Cys
 LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/18 167/5173 81/2583 27/860 chr19 11100236
chr19:11100245 C
C
 T
T
 1 a0001c0013
a0001c0013
 3 HG02922.hp1
HG03453.hp1
HG03540.hp1
HG02922.hp1
HG03453.hp1
HG03540.hp1
 synonymous_variant LOW c.90C>T
c.90C>T
 p.Asn30Asn
p.Asn30Asn
 LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/18 176/5173 90/2583 30/860 chr19 11100245
chr19:11105404 C
C
 T
T
 1 a0001c0018
a0001c0018
 2 HG02723.hp1
HG03579.hp1
HG02723.hp1
HG03579.hp1
 synonymous_variant LOW c.498C>T
c.498C>T
 p.Ala166Ala
p.Ala166Ala
 LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 4/18 584/5173 498/2583 166/860 chr19 11105404
chr19:11110680 C
C
 T
T
 1 a0001c0023
a0001c0023
 1 NA18951.hp1
NA18951.hp1
 synonymous_variant LOW c.969C>T
c.969C>T
 p.Gly323Gly
p.Gly323Gly
 LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 7/18 1055/5173 969/2583 323/860 chr19 11110680
chr19:11113285 C
C
 T
T
 1 a0001c0012
a0001c0012
 3 NA19001.hp1
NA19065.hp1
NA19091.hp2
NA19001.hp1
NA19065.hp1
NA19091.hp2
 synonymous_variant LOW c.1194C>T
c.1194C>T
 p.Ile398Ile
p.Ile398Ile
 LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 9/18 1280/5173 1194/2583 398/860 chr19 11113285
chr19:11113589 A
A
 G
G
 20 a0001c0002
a0001c0003
a0001c0004
others(17): Show 
a0001c0002
a0001c0003
a0001c0004
a0001c0006
a0001c0009
a0001c0012
a0001c0013
a0001c0015
a0001c0016
a0001c0017
a0001c0020
a0001c0021
a0001c0022
a0001c0023
a0001c0027
a0002c0005
a0002c0025
a0003c0011
a0004c0014
a0006c0024
 236 HG00099.hp2
HG00408.hp1
HG00408.hp2
others(233): Show 
HG00099.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp1
HG01358.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18957.hp1
NA18961.hp1
NA18962.hp1
NA18964.hp2
NA18966.hp1
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18975.hp2
NA18979.hp1
NA18980.hp1
NA18983.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18992.hp1
NA18993.hp1
NA18995.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19070.hp2
NA19074.hp1
NA19079.hp2
NA19080.hp2
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 synonymous_variant LOW c.1413A>G
c.1413A>G
 p.Arg471Arg
p.Arg471Arg
 LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 10/18 1499/5173 1413/2583 471/860 chr19 11113589
chr19:11116124 C
C
 T
T
 6 a0001c0003
a0001c0017
a0001c0021
others(3): Show 
a0001c0003
a0001c0017
a0001c0021
a0001c0022
a0001c0023
a0001c0027
 61 HG00408.hp1
HG00423.hp2
HG00544.hp1
others(58): Show 
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG01981.hp1
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02486.hp2
HG02602.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp2
HG03516.hp1
HG03540.hp2
HG03688.hp2
HG03942.hp1
HG06807.hp1
NA18939.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18964.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp2
NA18979.hp1
NA18986.hp1
NA18986.hp2
NA18989.hp2
NA18993.hp1
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp2
NA19010.hp1
NA19056.hp2
NA19064.hp2
NA19074.hp1
NA19080.hp2
NA19083.hp2
NA19085.hp1
 synonymous_variant LOW c.1617C>T
c.1617C>T
 p.Pro539Pro
p.Pro539Pro
 LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 11/18 1703/5173 1617/2583 539/860 chr19 11116124
chr19:11116878 C
C
 T
T
 2 a0001c0008
a0001c0026
a0001c0008
a0001c0026
 18 HG01074.hp2
HG01167.hp1
HG01168.hp1
others(15): Show 
HG01074.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp2
HG01257.hp2
HG01261.hp1
HG01496.hp1
HG01516.hp1
HG01981.hp2
HG02300.hp2
HG02451.hp1
HG03139.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
NA18906.hp2
NA19043.hp2
NA20805.hp2
 synonymous_variant LOW c.1725C>T
c.1725C>T
 p.Leu575Leu
p.Leu575Leu
 LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/18 1811/5173 1725/2583 575/860 chr19 11116878
chr19:11116926 C
C
 T
T
 6 a0001c0002
a0001c0009
a0001c0012
others(3): Show 
a0001c0002
a0001c0009
a0001c0012
a0001c0016
a0001c0017
a0001c0020
 71 HG00099.hp2
HG00423.hp1
HG00438.hp2
others(68): Show 
HG00099.hp2
HG00423.hp1
HG00438.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02055.hp1
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02148.hp2
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02965.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18948.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18961.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18992.hp1
NA18995.hp2
NA19001.hp1
NA19001.hp2
NA19009.hp2
NA19056.hp1
NA19065.hp1
NA19066.hp1
NA19070.hp2
NA19085.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 synonymous_variant LOW c.1773C>T
c.1773C>T
 p.Asn591Asn
p.Asn591Asn
 LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/18 1859/5173 1773/2583 591/860 chr19 11116926
chr19:11120205 T
T
 C
C
 10 a0001c0002
a0001c0006
a0001c0009
others(7): Show 
a0001c0002
a0001c0006
a0001c0009
a0001c0012
a0001c0016
a0001c0017
a0001c0018
a0001c0020
a0003c0011
a0006c0024
 99 HG00099.hp2
HG00423.hp1
HG00438.hp2
others(96): Show 
HG00099.hp2
HG00423.hp1
HG00438.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG02004.hp1
HG02055.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02148.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02630.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03017.hp2
HG03195.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18940.hp1
NA18948.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18961.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18983.hp1
NA18985.hp1
NA18992.hp1
NA18995.hp2
NA19001.hp1
NA19001.hp2
NA19009.hp2
NA19011.hp2
NA19056.hp1
NA19058.hp1
NA19065.hp1
NA19066.hp1
NA19070.hp2
NA19079.hp2
NA19085.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 synonymous_variant LOW c.1959T>C
c.1959T>C
 p.Val653Val
p.Val653Val
 LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 13/18 2045/5173 1959/2583 653/860 chr19 11120205
chr19:11123265 A
A
 G
G
 18 a0001c0001
a0001c0002
a0001c0003
others(15): Show 
a0001c0001
a0001c0002
a0001c0003
a0001c0004
a0001c0006
a0001c0009
a0001c0010
a0001c0012
a0001c0013
a0001c0016
a0001c0017
a0001c0018
a0001c0022
a0001c0023
a0001c0027
a0003c0011
a0004c0014
a0005c0019
 290 HG00099.hp2
HG00408.hp1
HG00408.hp2
others(287): Show 
HG00099.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp2
HG01071.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01261.hp2
HG01358.hp2
HG01496.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18979.hp1
NA18980.hp1
NA18980.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp1
NA19058.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
 synonymous_variant LOW c.2232A>G
c.2232A>G
 p.Arg744Arg
p.Arg744Arg
 LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/18 2318/5173 2232/2583 744/860 chr19 11123265
chr19:11128054 C
C
 T
T
 1 a0001c0016
a0001c0016
 2 HG00423.hp1
NA18966.hp1
HG00423.hp1
NA18966.hp1
 synonymous_variant LOW c.2358C>T
c.2358C>T
 p.Ser786Ser
p.Ser786Ser
 LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 16/18 2444/5173 2358/2583 786/860 chr19 11128054
chr19:11129658 C
C
 T
T
 1 a0001c0022
a0001c0022
 1 HG02148.hp1
HG02148.hp1
 synonymous_variant LOW c.2535C>T
c.2535C>T
 p.Tyr845Tyr
p.Tyr845Tyr
 LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 17/18 2621/5173 2535/2583 845/860 chr19 11129658

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
chr19:11131368 G
G
 A
A
 33 a0001c0001t0005
a0001c0001t0007
a0001c0001t0010
others(30): Show 
a0001c0001t0005
a0001c0001t0007
a0001c0001t0010
a0001c0001t0011
a0001c0001t0012
a0001c0001t0013
a0001c0001t0016
a0001c0001t0022
a0001c0001t0023
a0001c0001t0027
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0035
a0001c0001t0037
a0001c0002t0012
a0001c0002t0014
a0001c0003t0005
a0001c0003t0013
a0001c0003t0022
a0001c0003t0023
a0001c0004t0005
a0001c0004t0036
a0001c0006t0005
a0001c0010t0005
a0001c0010t0010
a0001c0010t0011
a0001c0022t0005
a0005c0019t0007
 96 HG00558.hp2
HG00597.hp2
HG00621.hp2
others(93): Show 
HG00558.hp2
HG00597.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG01069.hp2
HG01074.hp1
HG01099.hp1
HG01168.hp2
HG01169.hp1
HG01261.hp2
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02080.hp2
HG02148.hp1
HG02155.hp1
HG02258.hp1
HG02273.hp2
HG02523.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18950.hp1
NA18953.hp1
NA18954.hp1
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18964.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18973.hp2
NA18975.hp1
NA18980.hp2
NA18983.hp2
NA18986.hp2
NA18990.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19011.hp1
NA19056.hp2
NA19058.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19083.hp1
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA20905.hp1
 3_prime_UTR_variant MODIFIER c.*52G>A
c.*52G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 52 chr19 11131368
chr19:11131457 G
G
 A
A
 5 a0001c0004t0004
a0001c0004t0038
a0001c0004t0039
others(2): Show 
a0001c0004t0004
a0001c0004t0038
a0001c0004t0039
a0001c0013t0004
a0004c0014t0004
 28 HG00408.hp2
HG00544.hp2
HG01891.hp1
others(25): Show 
HG00408.hp2
HG00544.hp2
HG01891.hp1
HG01891.hp2
HG02015.hp1
HG02129.hp2
HG02257.hp1
HG02647.hp2
HG02735.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG03490.hp1
HG03540.hp1
HG03654.hp2
NA18939.hp1
NA18941.hp2
NA18950.hp2
NA18969.hp1
NA18985.hp2
NA18989.hp1
NA18990.hp1
NA19004.hp1
NA19010.hp2
NA19012.hp1
NA19067.hp1
NA20129.hp1
 3_prime_UTR_variant MODIFIER c.*141G>A
c.*141G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 141 chr19 11131457
chr19:11131539 G
G
 A
A
 1 a0001c0009t0040
a0001c0009t0040
 1 HG03669.hp2
HG03669.hp2
 3_prime_UTR_variant MODIFIER c.*223G>A
c.*223G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 223 chr19 11131539
chr19:11131597 G
G
 A
A
 1 a0001c0007t0041
a0001c0007t0041
 1 HG04228.hp1
HG04228.hp1
 3_prime_UTR_variant MODIFIER c.*281G>A
c.*281G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 281 chr19 11131597
chr19:11131631 G
G
 C
C
 71 a0001c0001t0001
a0001c0001t0005
a0001c0001t0007
others(68): Show 
a0001c0001t0001
a0001c0001t0005
a0001c0001t0007
a0001c0001t0010
a0001c0001t0011
a0001c0001t0012
a0001c0001t0013
a0001c0001t0015
a0001c0001t0016
a0001c0001t0021
a0001c0001t0022
a0001c0001t0023
a0001c0001t0027
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0035
a0001c0001t0037
a0001c0002t0001
a0001c0002t0012
a0001c0002t0014
a0001c0002t0015
a0001c0002t0042
a0001c0002t0043
a0001c0002t0044
a0001c0002t0045
a0001c0003t0001
a0001c0003t0005
a0001c0003t0013
a0001c0003t0022
a0001c0003t0023
a0001c0004t0001
a0001c0004t0004
a0001c0004t0005
a0001c0004t0009
a0001c0004t0018
a0001c0004t0019
a0001c0004t0036
a0001c0004t0038
a0001c0004t0039
a0001c0004t0046
a0001c0006t0005
a0001c0006t0048
a0001c0007t0001
a0001c0007t0020
a0001c0008t0008
a0001c0008t0047
a0001c0009t0001
a0001c0009t0017
a0001c0009t0040
a0001c0010t0005
a0001c0010t0010
a0001c0010t0011
a0001c0012t0001
a0001c0012t0015
a0001c0013t0004
a0001c0013t0009
a0001c0016t0001
a0001c0017t0001
a0001c0018t0024
a0001c0021t0008
a0001c0022t0005
a0001c0026t0008
a0002c0005t0008
a0004c0014t0004
a0005c0019t0007
a0006c0024t0019
 250 HG00099.hp1
HG00099.hp2
HG00408.hp2
others(247): Show 
HG00099.hp1
HG00099.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01496.hp1
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18939.hp1
NA18940.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp2
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18983.hp2
NA18985.hp2
NA18986.hp2
NA18989.hp1
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*315G>C
c.*315G>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 315 chr19 11131631
chr19:11131820 G
G
 A
A
 38 a0001c0001t0005
a0001c0001t0007
a0001c0001t0010
others(35): Show 
a0001c0001t0005
a0001c0001t0007
a0001c0001t0010
a0001c0001t0011
a0001c0001t0012
a0001c0001t0013
a0001c0001t0016
a0001c0001t0022
a0001c0001t0023
a0001c0001t0027
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0035
a0001c0001t0037
a0001c0002t0012
a0001c0002t0014
a0001c0003t0005
a0001c0003t0013
a0001c0003t0022
a0001c0003t0023
a0001c0004t0004
a0001c0004t0005
a0001c0004t0036
a0001c0004t0038
a0001c0004t0039
a0001c0006t0005
a0001c0010t0005
a0001c0010t0010
a0001c0010t0011
a0001c0013t0004
a0001c0022t0005
a0004c0014t0004
a0005c0019t0007
 124 HG00408.hp2
HG00544.hp2
HG00558.hp2
others(121): Show 
HG00408.hp2
HG00544.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG01069.hp2
HG01074.hp1
HG01099.hp1
HG01168.hp2
HG01169.hp1
HG01261.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01981.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02080.hp2
HG02129.hp2
HG02148.hp1
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02523.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03540.hp1
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18939.hp1
NA18940.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18950.hp1
NA18950.hp2
NA18953.hp1
NA18954.hp1
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18964.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18973.hp2
NA18975.hp1
NA18980.hp2
NA18983.hp2
NA18985.hp2
NA18986.hp2
NA18989.hp1
NA18990.hp1
NA18990.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp1
NA19056.hp2
NA19058.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19083.hp1
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA20129.hp1
NA20905.hp1
 3_prime_UTR_variant MODIFIER c.*504G>A
c.*504G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 504 chr19 11131820
chr19:11131833 C
C
 A
A
 1 a0001c0004t0038
a0001c0004t0038
 1 HG02965.hp2
HG02965.hp2
 3_prime_UTR_variant MODIFIER c.*517C>A
c.*517C>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 517 chr19 11131833
chr19:11131969 G
G
 C
C
 1 a0001c0004t0038
a0001c0004t0038
 1 HG02965.hp2
HG02965.hp2
 3_prime_UTR_variant MODIFIER c.*653G>C
c.*653G>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 653 chr19 11131969
chr19:11131982 T
T
 C
C
 65 a0001c0001t0001
a0001c0001t0005
a0001c0001t0007
others(62): Show 
a0001c0001t0001
a0001c0001t0005
a0001c0001t0007
a0001c0001t0010
a0001c0001t0011
a0001c0001t0012
a0001c0001t0013
a0001c0001t0015
a0001c0001t0016
a0001c0001t0022
a0001c0001t0023
a0001c0001t0027
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0035
a0001c0001t0037
a0001c0002t0001
a0001c0002t0006
a0001c0002t0012
a0001c0002t0014
a0001c0002t0015
a0001c0002t0042
a0001c0002t0043
a0001c0002t0044
a0001c0002t0045
a0001c0003t0001
a0001c0003t0005
a0001c0003t0006
a0001c0003t0013
a0001c0003t0022
a0001c0003t0023
a0001c0004t0001
a0001c0004t0004
a0001c0004t0005
a0001c0004t0006
a0001c0004t0036
a0001c0004t0038
a0001c0004t0039
a0001c0006t0005
a0001c0006t0006
a0001c0006t0049
a0001c0006t0050
a0001c0006t0051
a0001c0007t0001
a0001c0009t0001
a0001c0009t0017
a0001c0009t0040
a0001c0010t0005
a0001c0010t0010
a0001c0010t0011
a0001c0012t0001
a0001c0012t0015
a0001c0013t0004
a0001c0016t0001
a0001c0017t0001
a0001c0018t0024
a0001c0022t0005
a0003c0011t0006
a0004c0014t0004
a0005c0019t0007
 229 HG00099.hp1
HG00099.hp2
HG00408.hp2
others(226): Show 
HG00099.hp1
HG00099.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp2
HG01071.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01261.hp2
HG01358.hp2
HG01496.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02074.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18939.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18989.hp1
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp1
NA19058.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*666T>C
c.*666T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 666 chr19 11131982
chr19:11132033 G
G
 A
A
 1 a0001c0018t0024
a0001c0018t0024
 2 HG02723.hp1
HG03579.hp1
HG02723.hp1
HG03579.hp1
 3_prime_UTR_variant MODIFIER c.*717G>A
c.*717G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 717 chr19 11132033
chr19:11132089 A
A
 G
G
 33 a0001c0001t0005
a0001c0001t0007
a0001c0001t0010
others(30): Show 
a0001c0001t0005
a0001c0001t0007
a0001c0001t0010
a0001c0001t0011
a0001c0001t0012
a0001c0001t0013
a0001c0001t0016
a0001c0001t0022
a0001c0001t0023
a0001c0001t0027
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0035
a0001c0001t0037
a0001c0002t0012
a0001c0002t0014
a0001c0003t0005
a0001c0003t0013
a0001c0003t0022
a0001c0003t0023
a0001c0004t0005
a0001c0004t0036
a0001c0006t0005
a0001c0010t0005
a0001c0010t0010
a0001c0010t0011
a0001c0022t0005
a0005c0019t0007
 96 HG00558.hp2
HG00597.hp2
HG00621.hp2
others(93): Show 
HG00558.hp2
HG00597.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG01069.hp2
HG01074.hp1
HG01099.hp1
HG01168.hp2
HG01169.hp1
HG01261.hp2
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02080.hp2
HG02148.hp1
HG02155.hp1
HG02258.hp1
HG02273.hp2
HG02523.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18950.hp1
NA18953.hp1
NA18954.hp1
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18964.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18973.hp2
NA18975.hp1
NA18980.hp2
NA18983.hp2
NA18986.hp2
NA18990.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19011.hp1
NA19056.hp2
NA19058.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19083.hp1
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA20905.hp1
 3_prime_UTR_variant MODIFIER c.*773A>G
c.*773A>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 773 chr19 11132089
chr19:11132119 C
C
 T
T
 1 a0001c0001t0021
a0001c0001t0021
 3 HG02559.hp2
HG02630.hp2
HG03041.hp2
HG02559.hp2
HG02630.hp2
HG03041.hp2
 3_prime_UTR_variant MODIFIER c.*803C>T
c.*803C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 803 chr19 11132119
chr19:11132203 C
C
 T
T
 1 a0001c0003t0059
a0001c0003t0059
 1 HG00544.hp1
HG00544.hp1
 3_prime_UTR_variant MODIFIER c.*887C>T
c.*887C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 887 chr19 11132203
chr19:11132223 C
C
 G
G
 1 a0001c0001t0037
a0001c0001t0037
 1 HG03471.hp1
HG03471.hp1
 3_prime_UTR_variant MODIFIER c.*907C>G
c.*907C>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 907 chr19 11132223
chr19:11132281 C
C
 T
T
 1 a0001c0004t0036
a0001c0004t0036
 1 NA18522.hp1
NA18522.hp1
 3_prime_UTR_variant MODIFIER c.*965C>T
c.*965C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 965 chr19 11132281
chr19:11132294 C
C
 T
T
 1 a0001c0001t0035
a0001c0001t0035
 1 HG02809.hp1
HG02809.hp1
 3_prime_UTR_variant MODIFIER c.*978C>T
c.*978C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 978 chr19 11132294
chr19:11132298 G
G
 C
C
 3 a0001c0004t0009
a0001c0004t0046
a0001c0013t0009
a0001c0004t0009
a0001c0004t0046
a0001c0013t0009
 14 HG01109.hp2
HG01952.hp1
HG02280.hp1
others(11): Show 
HG01109.hp2
HG01952.hp1
HG02280.hp1
HG02486.hp1
HG02615.hp1
HG02717.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03453.hp1
NA19240.hp1
 3_prime_UTR_variant MODIFIER c.*982G>C
c.*982G>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 982 chr19 11132298
chr19:11132302 G
G
 A
A
 1 a0001c0002t0042
a0001c0002t0042
 1 NA19001.hp2
NA19001.hp2
 3_prime_UTR_variant MODIFIER c.*986G>A
c.*986G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 986 chr19 11132302
chr19:11132310 C
C
 T
T
 1 a0001c0003t0058
a0001c0003t0058
 1 HG02165.hp1
HG02165.hp1
 3_prime_UTR_variant MODIFIER c.*994C>T
c.*994C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 994 chr19 11132310
chr19:11132356 A
A
 T
T
 1 a0001c0002t0045
a0001c0002t0045
 1 HG02129.hp1
HG02129.hp1
 3_prime_UTR_variant MODIFIER c.*1040A>T
c.*1040A>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 1040 chr19 11132356
chr19:11132443 C
C
 T
T
 1 a0001c0002t0044
a0001c0002t0044
 1 HG01952.hp2
HG01952.hp2
 3_prime_UTR_variant MODIFIER c.*1127C>T
c.*1127C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 1127 chr19 11132443
chr19:11132456 G
G
 A
A
 3 a0001c0001t0016
a0001c0001t0027
a0001c0001t0028
a0001c0001t0016
a0001c0001t0027
a0001c0001t0028
 5 NA18957.hp2
NA18973.hp2
NA18990.hp2
others(2): Show 
NA18957.hp2
NA18973.hp2
NA18990.hp2
NA19011.hp1
NA19083.hp1
 3_prime_UTR_variant MODIFIER c.*1140G>A
c.*1140G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 1140 chr19 11132456
chr19:11132484 G
G
 A
A
 33 a0001c0001t0005
a0001c0001t0007
a0001c0001t0010
others(30): Show 
a0001c0001t0005
a0001c0001t0007
a0001c0001t0010
a0001c0001t0011
a0001c0001t0012
a0001c0001t0013
a0001c0001t0016
a0001c0001t0022
a0001c0001t0023
a0001c0001t0027
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0035
a0001c0001t0037
a0001c0002t0012
a0001c0002t0014
a0001c0003t0005
a0001c0003t0013
a0001c0003t0022
a0001c0003t0023
a0001c0004t0005
a0001c0004t0036
a0001c0006t0005
a0001c0010t0005
a0001c0010t0010
a0001c0010t0011
a0001c0022t0005
a0005c0019t0007
 96 HG00558.hp2
HG00597.hp2
HG00621.hp2
others(93): Show 
HG00558.hp2
HG00597.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG01069.hp2
HG01074.hp1
HG01099.hp1
HG01168.hp2
HG01169.hp1
HG01261.hp2
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02080.hp2
HG02148.hp1
HG02155.hp1
HG02258.hp1
HG02273.hp2
HG02523.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18950.hp1
NA18953.hp1
NA18954.hp1
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18964.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18973.hp2
NA18975.hp1
NA18980.hp2
NA18983.hp2
NA18986.hp2
NA18990.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19011.hp1
NA19056.hp2
NA19058.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19083.hp1
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA20905.hp1
 3_prime_UTR_variant MODIFIER c.*1168G>A
c.*1168G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 1168 chr19 11132484
chr19:11132489 G
G
 C
C
 1 a0001c0004t0038
a0001c0004t0038
 1 HG02965.hp2
HG02965.hp2
 3_prime_UTR_variant MODIFIER c.*1173G>C
c.*1173G>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 1173 chr19 11132489
chr19:11132531 C
C
 CA
CA
 57 a0001c0001t0001
a0001c0001t0005
a0001c0001t0007
others(54): Show 
a0001c0001t0001
a0001c0001t0005
a0001c0001t0007
a0001c0001t0010
a0001c0001t0011
a0001c0001t0012
a0001c0001t0013
a0001c0001t0015
a0001c0001t0016
a0001c0001t0022
a0001c0001t0023
a0001c0001t0027
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0035
a0001c0001t0037
a0001c0002t0001
a0001c0002t0012
a0001c0002t0014
a0001c0002t0015
a0001c0002t0042
a0001c0002t0043
a0001c0002t0044
a0001c0002t0045
a0001c0003t0001
a0001c0003t0005
a0001c0003t0013
a0001c0003t0022
a0001c0003t0023
a0001c0004t0001
a0001c0004t0004
a0001c0004t0005
a0001c0004t0036
a0001c0004t0038
a0001c0004t0039
a0001c0006t0005
a0001c0007t0001
a0001c0009t0001
a0001c0009t0017
a0001c0009t0040
a0001c0010t0005
a0001c0010t0010
a0001c0010t0011
a0001c0012t0001
a0001c0012t0015
a0001c0013t0004
a0001c0016t0001
a0001c0017t0001
a0001c0018t0024
a0001c0022t0005
a0004c0014t0004
a0005c0019t0007
 201 HG00099.hp1
HG00099.hp2
HG00408.hp2
others(198): Show 
HG00099.hp1
HG00099.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp2
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01261.hp2
HG01358.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18939.hp1
NA18940.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp2
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp2
NA18983.hp2
NA18985.hp2
NA18986.hp2
NA18989.hp1
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19012.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*1216dupA
c.*1216dupA
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 1217 INFO_REALIGN_3_PRIME chr19 11132531
chr19:11132533 C
C
 G
G
 57 a0001c0001t0001
a0001c0001t0005
a0001c0001t0007
others(54): Show 
a0001c0001t0001
a0001c0001t0005
a0001c0001t0007
a0001c0001t0010
a0001c0001t0011
a0001c0001t0012
a0001c0001t0013
a0001c0001t0015
a0001c0001t0016
a0001c0001t0022
a0001c0001t0023
a0001c0001t0027
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0035
a0001c0001t0037
a0001c0002t0001
a0001c0002t0012
a0001c0002t0014
a0001c0002t0015
a0001c0002t0042
a0001c0002t0043
a0001c0002t0044
a0001c0002t0045
a0001c0003t0001
a0001c0003t0005
a0001c0003t0013
a0001c0003t0022
a0001c0003t0023
a0001c0004t0001
a0001c0004t0004
a0001c0004t0005
a0001c0004t0036
a0001c0004t0038
a0001c0004t0039
a0001c0006t0005
a0001c0007t0001
a0001c0009t0001
a0001c0009t0017
a0001c0009t0040
a0001c0010t0005
a0001c0010t0010
a0001c0010t0011
a0001c0012t0001
a0001c0012t0015
a0001c0013t0004
a0001c0016t0001
a0001c0017t0001
a0001c0018t0024
a0001c0022t0005
a0004c0014t0004
a0005c0019t0007
 201 HG00099.hp1
HG00099.hp2
HG00408.hp2
others(198): Show 
HG00099.hp1
HG00099.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp2
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01261.hp2
HG01358.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18939.hp1
NA18940.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp2
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp2
NA18983.hp2
NA18985.hp2
NA18986.hp2
NA18989.hp1
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19012.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*1217C>G
c.*1217C>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 1217 chr19 11132533
chr19:11132547 TCTA
TCTA
 T
T
 33 a0001c0001t0005
a0001c0001t0007
a0001c0001t0010
others(30): Show 
a0001c0001t0005
a0001c0001t0007
a0001c0001t0010
a0001c0001t0011
a0001c0001t0012
a0001c0001t0013
a0001c0001t0016
a0001c0001t0022
a0001c0001t0023
a0001c0001t0027
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0035
a0001c0001t0037
a0001c0002t0012
a0001c0002t0014
a0001c0003t0005
a0001c0003t0013
a0001c0003t0022
a0001c0003t0023
a0001c0004t0005
a0001c0004t0036
a0001c0006t0005
a0001c0010t0005
a0001c0010t0010
a0001c0010t0011
a0001c0022t0005
a0005c0019t0007
 96 HG00558.hp2
HG00597.hp2
HG00621.hp2
others(93): Show 
HG00558.hp2
HG00597.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG01069.hp2
HG01074.hp1
HG01099.hp1
HG01168.hp2
HG01169.hp1
HG01261.hp2
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02080.hp2
HG02148.hp1
HG02155.hp1
HG02258.hp1
HG02273.hp2
HG02523.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18950.hp1
NA18953.hp1
NA18954.hp1
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18964.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18973.hp2
NA18975.hp1
NA18980.hp2
NA18983.hp2
NA18986.hp2
NA18990.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19011.hp1
NA19056.hp2
NA19058.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19083.hp1
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA20905.hp1
 3_prime_UTR_variant MODIFIER c.*1235_*1237delCTA
c.*1235_*1237delCTA
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 1235 INFO_REALIGN_3_PRIME chr19 11132547
chr19:11132578 T
T
 C
C
 79 a0001c0001t0001
a0001c0001t0005
a0001c0001t0007
others(76): Show 
a0001c0001t0001
a0001c0001t0005
a0001c0001t0007
a0001c0001t0010
a0001c0001t0011
a0001c0001t0012
a0001c0001t0013
a0001c0001t0015
a0001c0001t0016
a0001c0001t0021
a0001c0001t0022
a0001c0001t0023
a0001c0001t0027
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0035
a0001c0001t0037
a0001c0002t0001
a0001c0002t0006
a0001c0002t0012
a0001c0002t0014
a0001c0002t0015
a0001c0002t0042
a0001c0002t0043
a0001c0002t0044
a0001c0002t0045
a0001c0003t0001
a0001c0003t0005
a0001c0003t0006
a0001c0003t0013
a0001c0003t0022
a0001c0003t0023
a0001c0004t0001
a0001c0004t0004
a0001c0004t0005
a0001c0004t0006
a0001c0004t0009
a0001c0004t0018
a0001c0004t0019
a0001c0004t0036
a0001c0004t0038
a0001c0004t0039
a0001c0004t0046
a0001c0006t0005
a0001c0006t0006
a0001c0006t0048
a0001c0006t0049
a0001c0006t0050
a0001c0006t0051
a0001c0007t0001
a0001c0007t0020
a0001c0008t0008
a0001c0008t0047
a0001c0009t0001
a0001c0009t0017
a0001c0009t0040
a0001c0010t0005
a0001c0010t0010
a0001c0010t0011
a0001c0012t0001
a0001c0012t0015
a0001c0013t0004
a0001c0013t0009
a0001c0016t0001
a0001c0017t0001
a0001c0018t0024
a0001c0021t0008
a0001c0022t0005
a0001c0026t0008
a0002c0005t0008
a0003c0011t0006
a0004c0014t0004
a0005c0019t0007
a0006c0024t0019
 278 HG00099.hp1
HG00099.hp2
HG00408.hp2
others(275): Show 
HG00099.hp1
HG00099.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18939.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18989.hp1
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp1
NA19058.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*1262T>C
c.*1262T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 1262 chr19 11132578
chr19:11132584 C
C
 T
T
 23 a0001c0001t0001
a0001c0001t0015
a0001c0002t0001
others(20): Show 
a0001c0001t0001
a0001c0001t0015
a0001c0002t0001
a0001c0002t0015
a0001c0002t0042
a0001c0002t0043
a0001c0002t0044
a0001c0002t0045
a0001c0003t0001
a0001c0004t0001
a0001c0004t0004
a0001c0004t0038
a0001c0004t0039
a0001c0007t0001
a0001c0009t0001
a0001c0009t0017
a0001c0009t0040
a0001c0012t0001
a0001c0012t0015
a0001c0013t0004
a0001c0016t0001
a0001c0017t0001
a0004c0014t0004
 103 HG00099.hp1
HG00099.hp2
HG00408.hp2
others(100): Show 
HG00099.hp1
HG00099.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02015.hp1
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02523.hp2
HG02647.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03654.hp2
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18939.hp1
NA18941.hp2
NA18948.hp2
NA18950.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18966.hp1
NA18969.hp1
NA18971.hp2
NA18975.hp2
NA18985.hp2
NA18989.hp1
NA18990.hp1
NA18992.hp1
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp2
NA19012.hp1
NA19056.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19070.hp2
NA19085.hp2
NA19088.hp2
NA19091.hp2
NA20129.hp1
NA20805.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*1268C>T
c.*1268C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 1268 chr19 11132584
chr19:11132608 C
C
 T
T
 1 a0001c0007t0020
a0001c0007t0020
 3 HG01884.hp1
HG02970.hp1
NA19043.hp1
HG01884.hp1
HG02970.hp1
NA19043.hp1
 3_prime_UTR_variant MODIFIER c.*1292C>T
c.*1292C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 1292 chr19 11132608
chr19:11132641 G
G
 A
A
 1 a0001c0004t0046
a0001c0004t0046
 1 NA19240.hp1
NA19240.hp1
 3_prime_UTR_variant MODIFIER c.*1325G>A
c.*1325G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 1325 chr19 11132641
chr19:11132648 G
G
 A
A
 3 a0001c0004t0009
a0001c0004t0046
a0001c0013t0009
a0001c0004t0009
a0001c0004t0046
a0001c0013t0009
 14 HG01109.hp2
HG01952.hp1
HG02280.hp1
others(11): Show 
HG01109.hp2
HG01952.hp1
HG02280.hp1
HG02486.hp1
HG02615.hp1
HG02717.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03453.hp1
NA19240.hp1
 3_prime_UTR_variant MODIFIER c.*1332G>A
c.*1332G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 1332 chr19 11132648
chr19:11132652 C
C
 G
G
 33 a0001c0001t0005
a0001c0001t0007
a0001c0001t0010
others(30): Show 
a0001c0001t0005
a0001c0001t0007
a0001c0001t0010
a0001c0001t0011
a0001c0001t0012
a0001c0001t0013
a0001c0001t0016
a0001c0001t0022
a0001c0001t0023
a0001c0001t0027
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0035
a0001c0001t0037
a0001c0002t0012
a0001c0002t0014
a0001c0003t0005
a0001c0003t0013
a0001c0003t0022
a0001c0003t0023
a0001c0004t0005
a0001c0004t0036
a0001c0006t0005
a0001c0010t0005
a0001c0010t0010
a0001c0010t0011
a0001c0022t0005
a0005c0019t0007
 96 HG00558.hp2
HG00597.hp2
HG00621.hp2
others(93): Show 
HG00558.hp2
HG00597.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG01069.hp2
HG01074.hp1
HG01099.hp1
HG01168.hp2
HG01169.hp1
HG01261.hp2
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02080.hp2
HG02148.hp1
HG02155.hp1
HG02258.hp1
HG02273.hp2
HG02523.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18950.hp1
NA18953.hp1
NA18954.hp1
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18964.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18973.hp2
NA18975.hp1
NA18980.hp2
NA18983.hp2
NA18986.hp2
NA18990.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19011.hp1
NA19056.hp2
NA19058.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19083.hp1
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA20905.hp1
 3_prime_UTR_variant MODIFIER c.*1336C>G
c.*1336C>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 1336 chr19 11132652
chr19:11132656 C
C
 A
A
 8 a0001c0001t0007
a0001c0001t0012
a0001c0001t0016
others(5): Show 
a0001c0001t0007
a0001c0001t0012
a0001c0001t0016
a0001c0001t0027
a0001c0001t0028
a0001c0001t0029
a0001c0002t0012
a0005c0019t0007
 35 HG00597.hp2
HG00673.hp1
HG01261.hp2
others(32): Show 
HG00597.hp2
HG00673.hp1
HG01261.hp2
HG02080.hp2
HG02155.hp1
HG02523.hp1
HG03017.hp1
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18945.hp2
NA18953.hp1
NA18954.hp1
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18969.hp2
NA18973.hp2
NA18975.hp1
NA18980.hp2
NA18983.hp2
NA18990.hp2
NA18993.hp2
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19009.hp1
NA19011.hp1
NA19058.hp2
NA19065.hp2
NA19067.hp2
NA19070.hp1
NA19079.hp1
NA19083.hp1
 3_prime_UTR_variant MODIFIER c.*1340C>A
c.*1340C>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 1340 chr19 11132656
chr19:11132670 T
T
 C
C
 14 a0001c0001t0021
a0001c0004t0009
a0001c0004t0018
others(11): Show 
a0001c0001t0021
a0001c0004t0009
a0001c0004t0018
a0001c0004t0019
a0001c0004t0046
a0001c0006t0048
a0001c0007t0020
a0001c0008t0008
a0001c0008t0047
a0001c0013t0009
a0001c0021t0008
a0001c0026t0008
a0002c0005t0008
a0006c0024t0019
 49 HG01074.hp2
HG01109.hp2
HG01167.hp1
others(46): Show 
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp2
HG01257.hp2
HG01261.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp1
HG01934.hp1
HG01952.hp1
HG01981.hp2
HG02056.hp1
HG02280.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02630.hp2
HG02717.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03453.hp1
HG03579.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
NA18906.hp2
NA18957.hp1
NA18980.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA20300.hp1
NA20805.hp2
 3_prime_UTR_variant MODIFIER c.*1354T>C
c.*1354T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 1354 chr19 11132670
chr19:11132685 C
C
 T
T
 2 a0001c0003t0026
a0001c0003t0057
a0001c0003t0026
a0001c0003t0057
 3 HG00408.hp1
HG00597.hp1
NA18971.hp1
HG00408.hp1
HG00597.hp1
NA18971.hp1
 3_prime_UTR_variant MODIFIER c.*1369C>T
c.*1369C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 1369 chr19 11132685
chr19:11132692 T
T
 C
C
 33 a0001c0001t0005
a0001c0001t0007
a0001c0001t0010
others(30): Show 
a0001c0001t0005
a0001c0001t0007
a0001c0001t0010
a0001c0001t0011
a0001c0001t0012
a0001c0001t0013
a0001c0001t0016
a0001c0001t0022
a0001c0001t0023
a0001c0001t0027
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0035
a0001c0001t0037
a0001c0002t0012
a0001c0002t0014
a0001c0003t0005
a0001c0003t0013
a0001c0003t0022
a0001c0003t0023
a0001c0004t0005
a0001c0004t0036
a0001c0006t0005
a0001c0010t0005
a0001c0010t0010
a0001c0010t0011
a0001c0022t0005
a0005c0019t0007
 96 HG00558.hp2
HG00597.hp2
HG00621.hp2
others(93): Show 
HG00558.hp2
HG00597.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG01069.hp2
HG01074.hp1
HG01099.hp1
HG01168.hp2
HG01169.hp1
HG01261.hp2
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02080.hp2
HG02148.hp1
HG02155.hp1
HG02258.hp1
HG02273.hp2
HG02523.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18950.hp1
NA18953.hp1
NA18954.hp1
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18964.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18973.hp2
NA18975.hp1
NA18980.hp2
NA18983.hp2
NA18986.hp2
NA18990.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19011.hp1
NA19056.hp2
NA19058.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19083.hp1
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA20905.hp1
 3_prime_UTR_variant MODIFIER c.*1376T>C
c.*1376T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 1376 chr19 11132692
chr19:11132701 C
C
 T
T
 2 a0001c0001t0034
a0001c0018t0024
a0001c0001t0034
a0001c0018t0024
 3 HG02723.hp1
HG03579.hp1
NA18747.hp1
HG02723.hp1
HG03579.hp1
NA18747.hp1
 3_prime_UTR_variant MODIFIER c.*1385C>T
c.*1385C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 1385 chr19 11132701
chr19:11132718 G
G
 A
A
 1 a0001c0004t0039
a0001c0004t0039
 1 HG00408.hp2
HG00408.hp2
 3_prime_UTR_variant MODIFIER c.*1402G>A
c.*1402G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 1402 chr19 11132718
chr19:11132722 C
C
 CA
CA
 24 a0001c0001t0011
a0001c0001t0012
a0001c0001t0015
others(21): Show 
a0001c0001t0011
a0001c0001t0012
a0001c0001t0015
a0001c0001t0022
a0001c0001t0023
a0001c0001t0027
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0002t0006
a0001c0002t0012
a0001c0002t0015
a0001c0003t0006
a0001c0003t0022
a0001c0003t0023
a0001c0004t0006
a0001c0006t0006
a0001c0006t0050
a0001c0006t0051
a0001c0007t0052
a0001c0008t0047
a0001c0010t0011
a0001c0012t0015
a0003c0011t0006
 52 HG00642.hp2
HG00673.hp1
HG00673.hp2
others(49): Show 
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01167.hp2
HG01169.hp2
HG01496.hp2
HG01975.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02258.hp1
HG02486.hp2
HG02602.hp2
HG02738.hp1
HG02738.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03017.hp2
HG03195.hp2
HG03225.hp1
HG03704.hp2
HG03831.hp1
HG03942.hp2
NA18940.hp1
NA18940.hp2
NA18943.hp1
NA18954.hp2
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18973.hp1
NA18975.hp1
NA18983.hp1
NA18985.hp1
NA18992.hp2
NA18993.hp1
NA18995.hp1
NA19000.hp2
NA19011.hp2
NA19058.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp2
NA19079.hp2
NA19080.hp1
NA19083.hp1
NA19091.hp2
NA20129.hp2
 3_prime_UTR_variant MODIFIER c.*1418dupA
c.*1418dupA
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 1419 INFO_REALIGN_3_PRIME chr19 11132722
chr19:11132735 C
C
 A
A
 33 a0001c0001t0005
a0001c0001t0007
a0001c0001t0010
others(30): Show 
a0001c0001t0005
a0001c0001t0007
a0001c0001t0010
a0001c0001t0011
a0001c0001t0012
a0001c0001t0013
a0001c0001t0016
a0001c0001t0022
a0001c0001t0023
a0001c0001t0027
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0035
a0001c0001t0037
a0001c0002t0012
a0001c0002t0014
a0001c0003t0005
a0001c0003t0013
a0001c0003t0022
a0001c0003t0023
a0001c0004t0005
a0001c0006t0005
a0001c0006t0049
a0001c0010t0005
a0001c0010t0010
a0001c0010t0011
a0001c0022t0005
a0005c0019t0007
 96 HG00558.hp2
HG00597.hp2
HG00621.hp2
others(93): Show 
HG00558.hp2
HG00597.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG01069.hp2
HG01074.hp1
HG01099.hp1
HG01168.hp2
HG01169.hp1
HG01261.hp2
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02080.hp2
HG02148.hp1
HG02155.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp2
HG02523.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp2
HG04204.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18950.hp1
NA18953.hp1
NA18954.hp1
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18964.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18973.hp2
NA18975.hp1
NA18980.hp2
NA18983.hp2
NA18986.hp2
NA18990.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19011.hp1
NA19056.hp2
NA19058.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19083.hp1
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA20905.hp1
 3_prime_UTR_variant MODIFIER c.*1419C>A
c.*1419C>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 1419 chr19 11132735
chr19:11132746 C
C
 T
T
 6 a0001c0007t0020
a0001c0008t0008
a0001c0008t0047
others(3): Show 
a0001c0007t0020
a0001c0008t0008
a0001c0008t0047
a0001c0021t0008
a0001c0026t0008
a0002c0005t0008
 25 HG01074.hp2
HG01167.hp1
HG01168.hp1
others(22): Show 
HG01074.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp2
HG01257.hp2
HG01261.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp1
HG01934.hp1
HG01981.hp2
HG02056.hp1
HG02300.hp2
HG02451.hp1
HG02818.hp1
HG02970.hp1
HG03139.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
NA18906.hp2
NA19043.hp1
NA19043.hp2
NA20300.hp1
NA20805.hp2
 3_prime_UTR_variant MODIFIER c.*1430C>T
c.*1430C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 1430 chr19 11132746
chr19:11132769 A
A
 G
G
 35 a0001c0001t0005
a0001c0001t0007
a0001c0001t0010
others(32): Show 
a0001c0001t0005
a0001c0001t0007
a0001c0001t0010
a0001c0001t0011
a0001c0001t0012
a0001c0001t0013
a0001c0001t0016
a0001c0001t0022
a0001c0001t0023
a0001c0001t0027
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0035
a0001c0001t0037
a0001c0002t0012
a0001c0002t0014
a0001c0003t0005
a0001c0003t0013
a0001c0003t0022
a0001c0003t0023
a0001c0004t0005
a0001c0004t0036
a0001c0006t0005
a0001c0009t0017
a0001c0009t0040
a0001c0010t0005
a0001c0010t0010
a0001c0010t0011
a0001c0022t0005
a0005c0019t0007
 100 HG00558.hp2
HG00597.hp2
HG00621.hp2
others(97): Show 
HG00558.hp2
HG00597.hp2
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG01069.hp2
HG01074.hp1
HG01099.hp1
HG01109.hp1
HG01168.hp2
HG01169.hp1
HG01261.hp2
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01975.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02080.hp2
HG02148.hp1
HG02155.hp1
HG02258.hp1
HG02273.hp2
HG02523.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18950.hp1
NA18953.hp1
NA18954.hp1
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18964.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18973.hp2
NA18975.hp1
NA18980.hp2
NA18983.hp2
NA18986.hp2
NA18990.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19011.hp1
NA19056.hp2
NA19058.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19083.hp1
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA20905.hp1
 3_prime_UTR_variant MODIFIER c.*1453A>G
c.*1453A>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 1453 chr19 11132769
chr19:11132826 T
T
 C
C
 33 a0001c0001t0005
a0001c0001t0007
a0001c0001t0010
others(30): Show 
a0001c0001t0005
a0001c0001t0007
a0001c0001t0010
a0001c0001t0011
a0001c0001t0012
a0001c0001t0013
a0001c0001t0016
a0001c0001t0022
a0001c0001t0023
a0001c0001t0027
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0035
a0001c0001t0037
a0001c0002t0012
a0001c0002t0014
a0001c0003t0005
a0001c0003t0013
a0001c0003t0022
a0001c0003t0023
a0001c0004t0005
a0001c0004t0036
a0001c0006t0005
a0001c0010t0005
a0001c0010t0010
a0001c0010t0011
a0001c0022t0005
a0005c0019t0007
 96 HG00558.hp2
HG00597.hp2
HG00621.hp2
others(93): Show 
HG00558.hp2
HG00597.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG01069.hp2
HG01074.hp1
HG01099.hp1
HG01168.hp2
HG01169.hp1
HG01261.hp2
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02080.hp2
HG02148.hp1
HG02155.hp1
HG02258.hp1
HG02273.hp2
HG02523.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18950.hp1
NA18953.hp1
NA18954.hp1
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18964.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18973.hp2
NA18975.hp1
NA18980.hp2
NA18983.hp2
NA18986.hp2
NA18990.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19011.hp1
NA19056.hp2
NA19058.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19083.hp1
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA20905.hp1
 3_prime_UTR_variant MODIFIER c.*1510T>C
c.*1510T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 1510 chr19 11132826
chr19:11132866 A
A
 T
T
 1 a0001c0002t0014
a0001c0002t0014
 4 HG04115.hp2
NA18968.hp1
NA18995.hp2
others(1): Show 
HG04115.hp2
NA18968.hp1
NA18995.hp2
NA19091.hp1
 3_prime_UTR_variant MODIFIER c.*1550A>T
c.*1550A>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 1550 chr19 11132866
chr19:11132908 T
T
 C
C
 1 a0001c0003t0053
a0001c0003t0053
 1 NA19074.hp1
NA19074.hp1
 3_prime_UTR_variant MODIFIER c.*1592T>C
c.*1592T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 1592 chr19 11132908
chr19:11132916 G
G
 T
T
 33 a0001c0001t0005
a0001c0001t0007
a0001c0001t0010
others(30): Show 
a0001c0001t0005
a0001c0001t0007
a0001c0001t0010
a0001c0001t0011
a0001c0001t0012
a0001c0001t0013
a0001c0001t0016
a0001c0001t0022
a0001c0001t0023
a0001c0001t0027
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0035
a0001c0001t0037
a0001c0002t0012
a0001c0002t0014
a0001c0003t0005
a0001c0003t0013
a0001c0003t0022
a0001c0003t0023
a0001c0004t0005
a0001c0004t0036
a0001c0006t0005
a0001c0010t0005
a0001c0010t0010
a0001c0010t0011
a0001c0022t0005
a0005c0019t0007
 96 HG00558.hp2
HG00597.hp2
HG00621.hp2
others(93): Show 
HG00558.hp2
HG00597.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG01069.hp2
HG01074.hp1
HG01099.hp1
HG01168.hp2
HG01169.hp1
HG01261.hp2
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02080.hp2
HG02148.hp1
HG02155.hp1
HG02258.hp1
HG02273.hp2
HG02523.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18950.hp1
NA18953.hp1
NA18954.hp1
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18964.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18973.hp2
NA18975.hp1
NA18980.hp2
NA18983.hp2
NA18986.hp2
NA18990.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19011.hp1
NA19056.hp2
NA19058.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19083.hp1
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA20905.hp1
 3_prime_UTR_variant MODIFIER c.*1600G>T
c.*1600G>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 1600 chr19 11132916
chr19:11133059 C
C
 T
T
 18 a0001c0001t0001
a0001c0001t0015
a0001c0002t0001
others(15): Show 
a0001c0001t0001
a0001c0001t0015
a0001c0002t0001
a0001c0002t0015
a0001c0002t0042
a0001c0002t0043
a0001c0002t0044
a0001c0002t0045
a0001c0003t0001
a0001c0004t0001
a0001c0007t0001
a0001c0009t0001
a0001c0009t0017
a0001c0009t0040
a0001c0012t0001
a0001c0012t0015
a0001c0016t0001
a0001c0017t0001
 75 HG00099.hp1
HG00099.hp2
HG00423.hp1
others(72): Show 
HG00099.hp1
HG00099.hp2
HG00423.hp1
HG00438.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp2
HG01928.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02523.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18948.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18966.hp1
NA18971.hp2
NA18975.hp2
NA18992.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19009.hp2
NA19056.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19070.hp2
NA19085.hp2
NA19088.hp2
NA19091.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*1743C>T
c.*1743C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 1743 chr19 11133059
chr19:11133276 C
C
 T
T
 2 a0001c0004t0019
a0006c0024t0019
a0001c0004t0019
a0006c0024t0019
 3 HG02895.hp1
HG02897.hp1
HG03579.hp2
HG02895.hp1
HG02897.hp1
HG03579.hp2
 3_prime_UTR_variant MODIFIER c.*1960C>T
c.*1960C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 1960 chr19 11133276
chr19:11133320 C
C
 T
T
 2 a0001c0003t0055
a0001c0020t0056
a0001c0003t0055
a0001c0020t0056
 2 HG01934.hp2
HG03225.hp2
HG01934.hp2
HG03225.hp2
 3_prime_UTR_variant MODIFIER c.*2004C>T
c.*2004C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 2004 chr19 11133320
chr19:11133332 G
G
 A
A
 8 a0001c0001t0010
a0001c0001t0011
a0001c0001t0030
others(5): Show 
a0001c0001t0010
a0001c0001t0011
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0006t0050
a0001c0010t0010
a0001c0010t0011
 19 HG00642.hp2
HG01069.hp2
HG01099.hp1
others(16): Show 
HG00642.hp2
HG01069.hp2
HG01099.hp1
HG01517.hp2
HG01928.hp1
HG02015.hp2
HG02273.hp2
HG02602.hp2
HG02698.hp2
HG03017.hp2
HG03688.hp1
HG03704.hp1
HG03831.hp1
NA18964.hp1
NA19000.hp1
NA19066.hp2
NA19068.hp2
NA19080.hp1
NA20905.hp1
 3_prime_UTR_variant MODIFIER c.*2016G>A
c.*2016G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 2016 chr19 11133332
chr19:11133370 G
G
 A
A
 3 a0001c0004t0009
a0001c0004t0046
a0001c0013t0009
a0001c0004t0009
a0001c0004t0046
a0001c0013t0009
 14 HG01109.hp2
HG01952.hp1
HG02280.hp1
others(11): Show 
HG01109.hp2
HG01952.hp1
HG02280.hp1
HG02486.hp1
HG02615.hp1
HG02717.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03453.hp1
NA19240.hp1
 3_prime_UTR_variant MODIFIER c.*2054G>A
c.*2054G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 2054 chr19 11133370
chr19:11133427 G
G
 A
A
 1 a0001c0003t0025
a0001c0003t0025
 2 HG03130.hp2
HG06807.hp1
HG03130.hp2
HG06807.hp1
 3_prime_UTR_variant MODIFIER c.*2111G>A
c.*2111G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 2111 chr19 11133427
chr19:11133442 G
G
 A
A
 1 a0001c0018t0024
a0001c0018t0024
 2 HG02723.hp1
HG03579.hp1
HG02723.hp1
HG03579.hp1
 3_prime_UTR_variant MODIFIER c.*2126G>A
c.*2126G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 2126 chr19 11133442
chr19:11133511 T
T
 TTATA
TTATA
 25 a0001c0001t0005
a0001c0001t0007
a0001c0001t0010
others(22): Show 
a0001c0001t0005
a0001c0001t0007
a0001c0001t0010
a0001c0001t0011
a0001c0001t0012
a0001c0001t0016
a0001c0001t0022
a0001c0001t0027
a0001c0001t0030
a0001c0001t0031
a0001c0001t0034
a0001c0001t0035
a0001c0001t0037
a0001c0002t0012
a0001c0002t0014
a0001c0003t0005
a0001c0003t0022
a0001c0003t0026
a0001c0004t0005
a0001c0006t0005
a0001c0010t0005
a0001c0010t0010
a0001c0010t0011
a0001c0022t0005
a0005c0019t0007
 86 HG00408.hp1
HG00597.hp1
HG00597.hp2
others(83): Show 
HG00408.hp1
HG00597.hp1
HG00597.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG01069.hp2
HG01074.hp1
HG01099.hp1
HG01168.hp2
HG01169.hp1
HG01261.hp2
HG01517.hp2
HG01928.hp1
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02080.hp2
HG02148.hp1
HG02155.hp1
HG02523.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02809.hp1
HG03017.hp1
HG03471.hp1
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp2
HG04204.hp2
NA18747.hp1
NA18747.hp2
NA18942.hp1
NA18945.hp2
NA18950.hp1
NA18953.hp1
NA18954.hp1
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18964.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18973.hp2
NA18975.hp1
NA18980.hp2
NA18983.hp2
NA18990.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19011.hp1
NA19056.hp2
NA19058.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA20905.hp1
 3_prime_UTR_variant MODIFIER c.*2208_*2211dupTATA
c.*2208_*2211dupTATA
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 2212 INFO_REALIGN_3_PRIME chr19 11133511
chr19:11133511 T
T
 TTATATA
TTATATA
 6 a0001c0001t0013
a0001c0001t0023
a0001c0001t0029
others(3): Show 
a0001c0001t0013
a0001c0001t0023
a0001c0001t0029
a0001c0001t0032
a0001c0003t0013
a0001c0003t0023
 9 HG01884.hp2
HG02258.hp1
HG02273.hp2
others(6): Show 
HG01884.hp2
HG02258.hp1
HG02273.hp2
HG02647.hp1
HG02723.hp2
HG03209.hp1
NA18940.hp2
NA18943.hp1
NA18986.hp2
 3_prime_UTR_variant MODIFIER c.*2206_*2211dupTATA
others(2): Show 
c.*2206_*2211dupTATATA
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 2212 INFO_REALIGN_3_PRIME chr19 11133511
chr19:11133511 TTA
TTA
 T
T
 53 a0001c0001t0001
a0001c0001t0015
a0001c0001t0021
others(50): Show 
a0001c0001t0001
a0001c0001t0015
a0001c0001t0021
a0001c0002t0001
a0001c0002t0006
a0001c0002t0015
a0001c0002t0042
a0001c0002t0044
a0001c0002t0045
a0001c0003t0001
a0001c0003t0003
a0001c0003t0006
a0001c0003t0025
a0001c0003t0053
a0001c0003t0054
a0001c0003t0055
a0001c0003t0057
a0001c0003t0058
a0001c0003t0059
a0001c0004t0001
a0001c0004t0003
a0001c0004t0004
a0001c0004t0006
a0001c0004t0009
a0001c0004t0019
a0001c0004t0038
a0001c0004t0039
a0001c0004t0046
a0001c0006t0006
a0001c0006t0048
a0001c0006t0049
a0001c0006t0050
a0001c0007t0001
a0001c0007t0020
a0001c0008t0008
a0001c0008t0047
a0001c0009t0001
a0001c0009t0017
a0001c0009t0040
a0001c0012t0001
a0001c0012t0015
a0001c0013t0004
a0001c0013t0009
a0001c0016t0001
a0001c0017t0001
a0001c0021t0008
a0001c0023t0003
a0001c0026t0008
a0001c0027t0003
a0002c0005t0008
a0003c0011t0006
a0004c0014t0004
a0006c0024t0019
 215 HG00099.hp1
HG00099.hp2
HG00408.hp2
others(212): Show 
HG00099.hp1
HG00099.hp2
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00621.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01261.hp1
HG01358.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp2
HG02615.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03490.hp1
HG03490.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18961.hp2
NA18962.hp1
NA18964.hp2
NA18966.hp1
NA18967.hp1
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18975.hp2
NA18979.hp1
NA18983.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18992.hp1
NA19001.hp1
NA19001.hp2
NA19002.hp2
NA19004.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19058.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19070.hp2
NA19074.hp1
NA19079.hp2
NA19080.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*2210_*2211delTA
c.*2210_*2211delTA
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 2210 INFO_REALIGN_3_PRIME chr19 11133511
chr19:11133526 T
T
 C
C
 3 a0001c0002t0043
a0001c0003t0054
a0001c0003t0059
a0001c0002t0043
a0001c0003t0054
a0001c0003t0059
 3 HG00544.hp1
HG04204.hp1
NA18941.hp1
HG00544.hp1
HG04204.hp1
NA18941.hp1
 3_prime_UTR_variant MODIFIER c.*2210T>C
c.*2210T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 2210 chr19 11133526
chr19:11133528 C
C
 T
T
 1 a0001c0001t0028
a0001c0001t0028
 1 NA19083.hp1
NA19083.hp1
 3_prime_UTR_variant MODIFIER c.*2212C>T
c.*2212C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 2212 chr19 11133528
chr19:11133530 C
C
 T
T
 1 a0001c0001t0028
a0001c0001t0028
 1 NA19083.hp1
NA19083.hp1
 3_prime_UTR_variant MODIFIER c.*2214C>T
c.*2214C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 2214 chr19 11133530
chr19:11133666 C
C
 G
G
 1 a0001c0001t0030
a0001c0001t0030
 1 NA19066.hp2
NA19066.hp2
 3_prime_UTR_variant MODIFIER c.*2350C>G
c.*2350C>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 2350 chr19 11133666
chr19:11133698 A
A
 T
T
 1 a0001c0003t0059
a0001c0003t0059
 1 HG00544.hp1
HG00544.hp1
 3_prime_UTR_variant MODIFIER c.*2382A>T
c.*2382A>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 2382 chr19 11133698
chr19:11133809 T
T
 C
C
 1 a0001c0001t0031
a0001c0001t0031
 1 HG02698.hp2
HG02698.hp2
 3_prime_UTR_variant MODIFIER c.*2493T>C
c.*2493T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 18/18 2493 chr19 11133809

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
chr19:11089633 C
C
 A
A
 6 a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
others(3): Show 
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0008t0008g0013
a0002c0005t0002g0009
a0002c0005t0002g0012
 7 HG01952.hp1
HG02280.hp1
HG02559.hp1
others(4): Show 
HG01952.hp1
HG02280.hp1
HG02559.hp1
HG02615.hp1
HG03195.hp1
HG03453.hp2
NA18906.hp2
 intron_variant MODIFIER c.67+18C>A
c.67+18C>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11089633
chr19:11089736 C
C
 T
T
 9 a0001c0026t0008g0348
a0002c0005t0002g0340
a0002c0005t0002g0341
others(6): Show 
a0001c0026t0008g0348
a0002c0005t0002g0340
a0002c0005t0002g0341
a0002c0005t0002g0342
a0002c0005t0002g0343
a0002c0005t0002g0344
a0002c0005t0002g0345
a0002c0005t0002g0347
a0006c0024t0019g0346
 9 HG00738.hp2
HG01069.hp1
HG01071.hp2
others(6): Show 
HG00738.hp2
HG01069.hp1
HG01071.hp2
HG01255.hp2
HG01261.hp1
HG01358.hp1
HG01516.hp2
HG01517.hp1
HG03579.hp2
 intron_variant MODIFIER c.67+121C>T
c.67+121C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11089736
chr19:11089755 C
C
 T
T
 2 a0001c0013t0004g0338
a0001c0013t0009g0339
a0001c0013t0004g0338
a0001c0013t0009g0339
 2 HG02922.hp1
HG03453.hp1
HG02922.hp1
HG03453.hp1
 intron_variant MODIFIER c.67+140C>T
c.67+140C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11089755
chr19:11089799 C
C
 G
G
 22 a0001c0001t0013g0319
a0001c0001t0031g0333
a0001c0003t0003g0334
others(19): Show 
a0001c0001t0013g0319
a0001c0001t0031g0333
a0001c0003t0003g0334
a0001c0003t0055g0320
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0051g0337
a0001c0007t0020g0318
a0001c0007t0020g0321
a0001c0013t0004g0338
a0001c0013t0009g0339
a0001c0018t0024g0322
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
 22 HG01081.hp1
HG01106.hp1
HG01167.hp2
others(19): Show 
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01169.hp2
HG01884.hp1
HG01975.hp1
HG02074.hp1
HG02698.hp2
HG02723.hp1
HG02738.hp1
HG02922.hp1
HG02970.hp1
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03704.hp2
HG03942.hp1
NA18940.hp1
NA18983.hp1
NA18985.hp1
NA19058.hp1
NA19079.hp2
 intron_variant MODIFIER c.67+184C>G
c.67+184C>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11089799
chr19:11089832 G
G
 A
A
 1 a0001c0004t0003g0014
a0001c0004t0003g0014
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.67+217G>A
c.67+217G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11089832
chr19:11090052 C
C
 T
T
 1 a0002c0005t0002g0317
a0002c0005t0002g0317
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.67+437C>T
c.67+437C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11090052
chr19:11090077 T
T
 C
C
 4 a0001c0001t0013g0319
a0001c0003t0055g0320
a0001c0007t0020g0318
others(1): Show 
a0001c0001t0013g0319
a0001c0003t0055g0320
a0001c0007t0020g0318
a0001c0007t0020g0321
 4 HG01884.hp1
HG02970.hp1
HG03209.hp1
others(1): Show 
HG01884.hp1
HG02970.hp1
HG03209.hp1
HG03225.hp2
 intron_variant MODIFIER c.67+462T>C
c.67+462T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11090077
chr19:11090078 G
G
 A
A
 1 a0001c0017t0001g0015
a0001c0017t0001g0015
 1 NA19009.hp2
NA19009.hp2
 intron_variant MODIFIER c.67+463G>A
c.67+463G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11090078
chr19:11090130 C
C
 T
T
 5 a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
others(2): Show 
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0007t0002g0312
 5 HG00323.hp2
HG01256.hp2
HG03710.hp1
others(2): Show 
HG00323.hp2
HG01256.hp2
HG03710.hp1
HG04228.hp2
NA21309.hp2
 intron_variant MODIFIER c.67+515C>T
c.67+515C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11090130
chr19:11090163 T
T
 A
A
 1 a0001c0006t0048g0016
a0001c0006t0048g0016
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.67+548T>A
c.67+548T>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11090163
chr19:11090164 C
C
 A
A
 1 a0001c0006t0048g0016
a0001c0006t0048g0016
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.67+549C>A
c.67+549C>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11090164
chr19:11090448 T
T
 C
C
 43 a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
others(40): Show 
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0023g0051
a0001c0001t0035g0020
a0001c0002t0001g0018
a0001c0002t0006g0043
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0006g0031
a0001c0003t0025g0022
a0001c0004t0004g0048
a0001c0004t0005g0042
a0001c0004t0009g0045
a0001c0004t0036g0033
a0001c0004t0038g0036
a0001c0004t0046g0046
a0001c0006t0005g0052
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0048g0016
a0001c0007t0020g0035
a0001c0008t0008g0019
a0001c0008t0008g0029
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0040g0027
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0013t0004g0041
a0001c0015t0002g0049
a0001c0015t0002g0055
a0001c0018t0024g0047
a0002c0005t0002g0028
a0002c0005t0002g0034
a0002c0005t0002g0039
a0002c0005t0002g0057
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0025t0002g0056
 44 HG00642.hp1
HG01884.hp2
HG01934.hp1
others(41): Show 
HG00642.hp1
HG01884.hp2
HG01934.hp1
HG01975.hp2
HG02083.hp2
HG02258.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03471.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp1
HG03834.hp2
HG04204.hp2
NA18522.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.67+833T>C
c.67+833T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11090448
chr19:11090453 C
C
 CG
CG
 347 a0001c0001t0001g0297
a0001c0001t0005g0007
a0001c0001t0005g0060
others(344): Show 
a0001c0001t0001g0297
a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
a0001c0001t0005g0162
a0001c0001t0005g0172
a0001c0001t0005g0179
a0001c0001t0005g0184
a0001c0001t0005g0192
a0001c0001t0005g0240
a0001c0001t0005g0249
a0001c0001t0005g0258
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0078
a0001c0001t0007g0079
a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0134
a0001c0001t0007g0157
a0001c0001t0007g0171
a0001c0001t0007g0176
a0001c0001t0007g0250
a0001c0001t0007g0251
a0001c0001t0007g0262
a0001c0001t0007g0273
a0001c0001t0007g0303
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0007g0306
a0001c0001t0007g0307
a0001c0001t0007g0308
a0001c0001t0007g0310
a0001c0001t0010g0072
a0001c0001t0010g0217
a0001c0001t0010g0239
a0001c0001t0010g0244
a0001c0001t0010g0245
a0001c0001t0010g0248
a0001c0001t0010g0259
a0001c0001t0010g0265
a0001c0001t0011g0073
a0001c0001t0011g0156
a0001c0001t0011g0242
a0001c0001t0011g0246
a0001c0001t0011g0254
a0001c0001t0012g0071
a0001c0001t0012g0136
a0001c0001t0012g0158
a0001c0001t0012g0161
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0013g0319
a0001c0001t0015g0298
a0001c0001t0016g0104
a0001c0001t0016g0108
a0001c0001t0016g0109
a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0001t0022g0243
a0001c0001t0023g0051
a0001c0001t0027g0103
a0001c0001t0028g0107
a0001c0001t0029g0132
a0001c0001t0030g0159
a0001c0001t0031g0333
a0001c0001t0032g0216
a0001c0001t0033g0182
a0001c0001t0034g0185
a0001c0001t0035g0020
a0001c0001t0037g0166
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0026g0237
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0001g0095
a0001c0004t0003g0014
a0001c0004t0003g0063
a0001c0004t0004g0048
a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0005g0042
a0001c0004t0005g0238
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0036g0033
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0004t0046g0046
a0001c0006t0005g0052
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0266
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0007t0001g0165
a0001c0007t0001g0180
a0001c0007t0001g0181
a0001c0007t0001g0224
a0001c0007t0002g0169
a0001c0007t0002g0170
a0001c0007t0002g0173
a0001c0007t0002g0188
a0001c0007t0002g0189
a0001c0007t0002g0191
a0001c0007t0002g0199
a0001c0007t0002g0241
a0001c0007t0002g0271
a0001c0007t0002g0301
a0001c0007t0002g0312
a0001c0007t0020g0035
a0001c0007t0020g0318
a0001c0007t0020g0321
a0001c0007t0041g0193
a0001c0007t0052g0177
a0001c0008t0008g0002
a0001c0008t0008g0013
a0001c0008t0008g0019
a0001c0008t0008g0029
a0001c0008t0008g0065
a0001c0008t0008g0167
a0001c0008t0008g0174
a0001c0008t0008g0175
a0001c0008t0008g0178
a0001c0008t0008g0183
a0001c0008t0008g0194
a0001c0008t0008g0214
a0001c0008t0008g0215
a0001c0008t0008g0296
a0001c0008t0047g0190
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0013t0009g0339
a0001c0015t0002g0049
a0001c0015t0002g0055
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0018t0024g0047
a0001c0018t0024g0322
a0001c0020t0056g0264
a0001c0021t0008g0287
a0001c0022t0005g0084
a0001c0023t0003g0291
a0001c0026t0008g0348
a0001c0027t0003g0275
a0002c0005t0002g0009
a0002c0005t0002g0012
a0002c0005t0002g0028
a0002c0005t0002g0034
a0002c0005t0002g0039
a0002c0005t0002g0057
a0002c0005t0002g0074
a0002c0005t0002g0155
a0002c0005t0002g0197
a0002c0005t0002g0198
a0002c0005t0002g0263
a0002c0005t0002g0286
a0002c0005t0002g0317
a0002c0005t0002g0340
a0002c0005t0002g0341
a0002c0005t0002g0342
a0002c0005t0002g0343
a0002c0005t0002g0344
a0002c0005t0002g0345
a0002c0005t0002g0347
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
a0002c0025t0002g0056
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
a0004c0014t0004g0112
a0004c0014t0004g0113
a0005c0019t0007g0133
a0006c0024t0019g0346
 357 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(354): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp1
NA19058.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.67+838_67+839insG
c.67+838_67+839insG
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11090453
chr19:11090599 A
A
 T
T
 1 a0001c0006t0050g0311
a0001c0006t0050g0311
 1 HG03017.hp2
HG03017.hp2
 intron_variant MODIFIER c.67+984A>T
c.67+984A>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11090599
chr19:11090989 C
C
 T
T
 2 a0002c0005t0002g0057
a0002c0025t0002g0056
a0002c0005t0002g0057
a0002c0025t0002g0056
 2 HG02280.hp2
HG02622.hp1
HG02280.hp2
HG02622.hp1
 intron_variant MODIFIER c.67+1374C>T
c.67+1374C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11090989
chr19:11091074 T
T
 A
A
 1 a0001c0002t0012g0059
a0001c0002t0012g0059
 1 NA18961.hp1
NA18961.hp1
 intron_variant MODIFIER c.67+1459T>A
c.67+1459T>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11091074
chr19:11091075 C
C
 G
G
 1 a0001c0001t0007g0310
a0001c0001t0007g0310
 1 NA18998.hp1
NA18998.hp1
 intron_variant MODIFIER c.67+1460C>G
c.67+1460C>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11091075
chr19:11091312 GT
GT
 G
G
 23 a0001c0001t0035g0020
a0001c0002t0001g0018
a0001c0003t0003g0021
others(20): Show 
a0001c0001t0035g0020
a0001c0002t0001g0018
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0006g0031
a0001c0003t0025g0022
a0001c0004t0036g0033
a0001c0004t0038g0036
a0001c0007t0020g0035
a0001c0008t0008g0019
a0001c0008t0008g0029
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0040g0027
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0002c0005t0002g0028
a0002c0005t0002g0034
a0002c0005t0002g0057
a0002c0025t0002g0056
 24 HG00642.hp1
HG01975.hp2
HG02083.hp2
others(21): Show 
HG00642.hp1
HG01975.hp2
HG02083.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02622.hp1
HG02698.hp1
HG02809.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp2
HG03130.hp1
HG03130.hp2
HG03669.hp2
HG03704.hp1
HG03831.hp1
HG03834.hp2
HG04204.hp2
NA18522.hp1
NA19043.hp1
NA19043.hp2
 intron_variant MODIFIER c.67+1700delT
c.67+1700delT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 INFO_REALIGN_3_PRIME chr19 11091312
chr19:11091382 T
T
 C
C
 1 a0001c0001t0005g0060
a0001c0001t0005g0060
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.67+1767T>C
c.67+1767T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11091382
chr19:11091518 GC
GC
 G
G
 25 a0001c0001t0035g0020
a0001c0002t0001g0018
a0001c0003t0003g0021
others(22): Show 
a0001c0001t0035g0020
a0001c0002t0001g0018
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0006g0031
a0001c0003t0025g0022
a0001c0004t0036g0033
a0001c0004t0038g0036
a0001c0006t0006g0061
a0001c0006t0048g0016
a0001c0007t0020g0035
a0001c0008t0008g0019
a0001c0008t0008g0029
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0040g0027
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0002c0005t0002g0028
a0002c0005t0002g0034
a0002c0005t0002g0057
a0002c0025t0002g0056
 26 HG00642.hp1
HG01975.hp2
HG02083.hp2
others(23): Show 
HG00642.hp1
HG01975.hp2
HG02083.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02622.hp1
HG02698.hp1
HG02809.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp2
HG02976.hp2
HG03130.hp1
HG03130.hp2
HG03669.hp2
HG03704.hp1
HG03831.hp1
HG03834.hp2
HG04204.hp2
NA18522.hp1
NA19043.hp1
NA19043.hp2
 intron_variant MODIFIER c.67+1907delC
c.67+1907delC
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 INFO_REALIGN_3_PRIME chr19 11091518
chr19:11091630 G
G
 T
T
 25 a0001c0001t0035g0020
a0001c0002t0001g0018
a0001c0003t0003g0021
others(22): Show 
a0001c0001t0035g0020
a0001c0002t0001g0018
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0006g0031
a0001c0003t0025g0022
a0001c0004t0036g0033
a0001c0004t0038g0036
a0001c0006t0006g0061
a0001c0006t0048g0016
a0001c0007t0020g0035
a0001c0008t0008g0019
a0001c0008t0008g0029
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0040g0027
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0002c0005t0002g0028
a0002c0005t0002g0034
a0002c0005t0002g0057
a0002c0025t0002g0056
 26 HG00642.hp1
HG01975.hp2
HG02083.hp2
others(23): Show 
HG00642.hp1
HG01975.hp2
HG02083.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02622.hp1
HG02698.hp1
HG02809.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp2
HG02976.hp2
HG03130.hp1
HG03130.hp2
HG03669.hp2
HG03704.hp1
HG03831.hp1
HG03834.hp2
HG04204.hp2
NA18522.hp1
NA19043.hp1
NA19043.hp2
 intron_variant MODIFIER c.67+2015G>T
c.67+2015G>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11091630
chr19:11091784 T
T
 A
A
 3 a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0049g0062
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0049g0062
 3 HG02257.hp2
HG02922.hp2
HG03225.hp1
HG02257.hp2
HG02922.hp2
HG03225.hp1
 intron_variant MODIFIER c.67+2169T>A
c.67+2169T>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11091784
chr19:11091840 G
G
 C
C
 20 a0001c0001t0031g0333
a0001c0003t0003g0334
a0001c0006t0006g0037
others(17): Show 
a0001c0001t0031g0333
a0001c0003t0003g0334
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0051g0337
a0001c0013t0004g0338
a0001c0013t0009g0339
a0001c0018t0024g0322
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
 20 HG01081.hp1
HG01106.hp1
HG01167.hp2
others(17): Show 
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01169.hp2
HG01975.hp1
HG02074.hp1
HG02698.hp2
HG02723.hp1
HG02738.hp1
HG02922.hp1
HG02922.hp2
HG03225.hp1
HG03453.hp1
HG03704.hp2
HG03942.hp1
NA18940.hp1
NA18983.hp1
NA18985.hp1
NA19058.hp1
NA19079.hp2
 intron_variant MODIFIER c.67+2225G>C
c.67+2225G>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11091840
chr19:11091892 C
C
 T
T
 1 a0001c0007t0020g0321
a0001c0007t0020g0321
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.67+2277C>T
c.67+2277C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11091892
chr19:11091893 G
G
 A
A
 21 a0001c0001t0031g0333
a0001c0003t0003g0334
a0001c0006t0006g0037
others(18): Show 
a0001c0001t0031g0333
a0001c0003t0003g0334
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0051g0337
a0001c0013t0004g0338
a0001c0013t0009g0339
a0001c0018t0024g0322
a0002c0005t0002g0317
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
 21 HG01081.hp1
HG01106.hp1
HG01167.hp2
others(18): Show 
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01169.hp2
HG01975.hp1
HG02074.hp1
HG02698.hp2
HG02723.hp1
HG02738.hp1
HG02922.hp1
HG02922.hp2
HG03225.hp1
HG03453.hp1
HG03704.hp2
HG03942.hp1
NA18522.hp2
NA18940.hp1
NA18983.hp1
NA18985.hp1
NA19058.hp1
NA19079.hp2
 intron_variant MODIFIER c.67+2278G>A
c.67+2278G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11091893
chr19:11091994 C
C
 T
T
 1 a0001c0006t0006g0309
a0001c0006t0006g0309
 1 NA18973.hp1
NA18973.hp1
 intron_variant MODIFIER c.67+2379C>T
c.67+2379C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11091994
chr19:11092166 C
C
 T
T
 1 a0001c0015t0002g0055
a0001c0015t0002g0055
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.67+2551C>T
c.67+2551C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11092166
chr19:11092202 T
T
 TTTA
TTTA
 54 a0001c0001t0005g0102
a0001c0001t0007g0069
a0001c0001t0007g0070
others(51): Show 
a0001c0001t0005g0102
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0078
a0001c0001t0007g0079
a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0310
a0001c0001t0010g0072
a0001c0001t0011g0073
a0001c0001t0012g0071
a0001c0001t0016g0104
a0001c0001t0016g0108
a0001c0001t0016g0109
a0001c0001t0027g0103
a0001c0001t0028g0107
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0006g0114
a0001c0002t0043g0076
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0004t0001g0095
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0039g0094
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0309
a0001c0008t0008g0013
a0001c0015t0002g0055
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0022t0005g0084
a0002c0005t0002g0074
a0004c0014t0004g0112
a0004c0014t0004g0113
 54 HG00408.hp2
HG00423.hp1
HG00544.hp2
others(51): Show 
HG00408.hp2
HG00423.hp1
HG00544.hp2
HG00733.hp1
HG01261.hp2
HG01496.hp2
HG01891.hp2
HG02015.hp1
HG02148.hp1
HG02155.hp1
HG02273.hp1
HG02300.hp1
HG02523.hp1
HG02523.hp2
HG02717.hp1
HG02976.hp1
HG03710.hp2
HG04204.hp1
NA18747.hp2
NA18906.hp2
NA18939.hp1
NA18941.hp2
NA18950.hp2
NA18952.hp1
NA18954.hp2
NA18957.hp2
NA18962.hp2
NA18966.hp1
NA18967.hp1
NA18969.hp1
NA18973.hp1
NA18973.hp2
NA18983.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp1
NA18990.hp1
NA18990.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19065.hp2
NA19067.hp1
NA19067.hp2
NA19080.hp1
NA19083.hp1
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.67+2617_67+2619dup
others(3): Show 
c.67+2617_67+2619dupATT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 INFO_REALIGN_3_PRIME chr19 11092202
chr19:11092202 T
T
 TTTATTA
TTTATTA
 23 a0001c0001t0031g0333
a0001c0002t0001g0066
a0001c0003t0003g0334
others(20): Show 
a0001c0001t0031g0333
a0001c0002t0001g0066
a0001c0003t0003g0334
a0001c0003t0026g0064
a0001c0004t0004g0067
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0051g0337
a0001c0007t0020g0035
a0001c0008t0008g0065
a0002c0005t0002g0340
a0002c0005t0002g0341
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
 23 HG00597.hp1
HG01081.hp1
HG01106.hp1
others(20): Show 
HG00597.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01169.hp2
HG01516.hp2
HG01517.hp1
HG01975.hp1
HG02074.hp1
HG02647.hp2
HG02698.hp2
HG02738.hp1
HG02895.hp2
HG03139.hp2
HG03704.hp2
HG03942.hp1
NA18940.hp1
NA18983.hp1
NA18985.hp1
NA19043.hp1
NA19058.hp1
NA19079.hp2
NA19085.hp2
 intron_variant MODIFIER c.67+2614_67+2619dup
others(6): Show 
c.67+2614_67+2619dupATTATT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 INFO_REALIGN_3_PRIME chr19 11092202
chr19:11092202 T
T
 TTTATTAT
others(2): Show 
TTTATTATTA
 5 a0001c0004t0003g0063
a0001c0004t0009g0003
a0001c0004t0009g0011
others(2): Show 
a0001c0004t0003g0063
a0001c0004t0009g0003
a0001c0004t0009g0011
a0001c0013t0009g0339
a0002c0005t0002g0012
 6 HG01952.hp1
HG02559.hp1
HG02615.hp1
others(3): Show 
HG01952.hp1
HG02559.hp1
HG02615.hp1
HG03195.hp1
HG03453.hp1
NA19068.hp1
 intron_variant MODIFIER c.67+2611_67+2619dup
others(9): Show 
c.67+2611_67+2619dupATTATTATT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 INFO_REALIGN_3_PRIME chr19 11092202
chr19:11092202 T
T
 TTTATTAT
others(5): Show 
TTTATTATTATTA
 5 a0001c0004t0003g0014
a0001c0004t0009g0010
a0001c0006t0006g0038
others(2): Show 
a0001c0004t0003g0014
a0001c0004t0009g0010
a0001c0006t0006g0038
a0002c0005t0002g0009
a0002c0005t0002g0034
 5 HG02145.hp1
HG02280.hp1
HG02886.hp2
others(2): Show 
HG02145.hp1
HG02280.hp1
HG02886.hp2
HG03225.hp1
HG03453.hp2
 intron_variant MODIFIER c.67+2608_67+2619dup
others(12): Show 
c.67+2608_67+2619dupATTATTATTATT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 INFO_REALIGN_3_PRIME chr19 11092202
chr19:11092202 T
T
 TTTATTAT
others(8): Show 
TTTATTATTATTATTA
 12 a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0006g0031
others(9): Show 
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0006g0031
a0001c0004t0036g0033
a0001c0008t0008g0029
a0001c0009t0040g0027
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0018t0024g0322
a0002c0005t0002g0028
 12 HG02451.hp1
HG02451.hp2
HG02486.hp2
others(9): Show 
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02698.hp1
HG02723.hp1
HG02896.hp1
HG02897.hp2
HG03669.hp2
HG03704.hp1
HG03831.hp1
HG04204.hp2
NA18522.hp1
 intron_variant MODIFIER c.67+2605_67+2619dup
others(15): Show 
c.67+2605_67+2619dupATTATTATTATTATT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 INFO_REALIGN_3_PRIME chr19 11092202
chr19:11092202 T
T
 TTTATTAT
others(11): Show 
TTTATTATTATTATTATTA
 12 a0001c0001t0035g0020
a0001c0002t0001g0018
a0001c0003t0003g0021
others(9): Show 
a0001c0001t0035g0020
a0001c0002t0001g0018
a0001c0003t0003g0021
a0001c0003t0025g0022
a0001c0003t0055g0320
a0001c0006t0006g0037
a0001c0007t0020g0321
a0001c0008t0008g0019
a0001c0009t0017g0004
a0001c0013t0004g0338
a0002c0005t0002g0057
a0002c0005t0002g0317
 13 HG00642.hp1
HG01884.hp1
HG01975.hp2
others(10): Show 
HG00642.hp1
HG01884.hp1
HG01975.hp2
HG02622.hp1
HG02809.hp1
HG02922.hp1
HG02922.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp2
HG03834.hp2
NA18522.hp2
NA19043.hp2
 intron_variant MODIFIER c.67+2602_67+2619dup
others(18): Show 
c.67+2602_67+2619dupATTATTATTATTATTATT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 INFO_REALIGN_3_PRIME chr19 11092202
chr19:11092202 T
T
 TTTATTAT
others(14): Show 
TTTATTATTATTATTATTATTA
 4 a0001c0001t0013g0319
a0001c0006t0006g0061
a0001c0009t0001g0017
others(1): Show 
a0001c0001t0013g0319
a0001c0006t0006g0061
a0001c0009t0001g0017
a0002c0025t0002g0056
 4 HG02083.hp2
HG02280.hp2
HG02976.hp2
others(1): Show 
HG02083.hp2
HG02280.hp2
HG02976.hp2
HG03209.hp1
 intron_variant MODIFIER c.67+2599_67+2619dup
others(21): Show 
c.67+2599_67+2619dupATTATTATTATTATTATTATT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 INFO_REALIGN_3_PRIME chr19 11092202
chr19:11092202 T
T
 TTTATTAT
others(17): Show 
TTTATTATTATTATTATTATTATTA
 1 a0001c0007t0020g0318
a0001c0007t0020g0318
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.67+2596_67+2619dup
others(24): Show 
c.67+2596_67+2619dupATTATTATTATTATTATTATTATT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 INFO_REALIGN_3_PRIME chr19 11092202
chr19:11092202 TTTATTAT
others(2): Show 
TTTATTATTA
 T
T
 6 a0001c0001t0007g0303
a0001c0001t0007g0304
a0001c0001t0007g0305
others(3): Show 
a0001c0001t0007g0303
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0007g0306
a0001c0001t0007g0307
a0001c0001t0007g0308
 6 NA18953.hp1
NA18954.hp1
NA18980.hp2
others(3): Show 
NA18953.hp1
NA18954.hp1
NA18980.hp2
NA18993.hp2
NA19009.hp1
NA19058.hp2
 intron_variant MODIFIER c.67+2611_67+2619del
others(9): Show 
c.67+2611_67+2619delATTATTATT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 INFO_REALIGN_3_PRIME chr19 11092202
chr19:11092444 A
A
 AT
AT
 41 a0001c0001t0001g0297
a0001c0001t0015g0298
a0001c0001t0031g0333
others(38): Show 
a0001c0001t0001g0297
a0001c0001t0015g0298
a0001c0001t0031g0333
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0294
a0001c0003t0025g0022
a0001c0003t0058g0293
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0049g0062
a0001c0006t0051g0337
a0001c0007t0002g0301
a0001c0008t0008g0296
a0001c0013t0004g0338
a0001c0013t0009g0339
a0001c0018t0024g0322
a0001c0021t0008g0287
a0001c0023t0003g0291
a0002c0005t0002g0317
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
 41 HG00438.hp1
HG00621.hp1
HG01081.hp1
others(38): Show 
HG00438.hp1
HG00621.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp2
HG01975.hp1
HG02056.hp1
HG02074.hp1
HG02165.hp1
HG02257.hp2
HG02602.hp1
HG02698.hp2
HG02723.hp1
HG02738.hp1
HG02922.hp1
HG02922.hp2
HG03130.hp2
HG03225.hp1
HG03453.hp1
HG03688.hp2
HG03704.hp2
HG03831.hp2
HG03942.hp1
NA18522.hp2
NA18940.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18961.hp2
NA18967.hp1
NA18983.hp1
NA18985.hp1
NA18989.hp2
NA19007.hp2
NA19010.hp1
NA19058.hp1
NA19079.hp2
NA19080.hp2
NA19088.hp2
 intron_variant MODIFIER c.67+2843dupT
c.67+2843dupT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 INFO_REALIGN_3_PRIME chr19 11092444
chr19:11092686 G
G
 A
A
 4 a0001c0001t0013g0319
a0001c0003t0055g0320
a0001c0007t0020g0318
others(1): Show 
a0001c0001t0013g0319
a0001c0003t0055g0320
a0001c0007t0020g0318
a0001c0007t0020g0321
 4 HG01884.hp1
HG02970.hp1
HG03209.hp1
others(1): Show 
HG01884.hp1
HG02970.hp1
HG03209.hp1
HG03225.hp2
 intron_variant MODIFIER c.67+3071G>A
c.67+3071G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11092686
chr19:11092738 A
A
 G
G
 62 a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
others(59): Show 
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0013g0319
a0001c0001t0023g0051
a0001c0001t0031g0333
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0003t0003g0334
a0001c0003t0055g0320
a0001c0004t0003g0014
a0001c0004t0004g0048
a0001c0004t0004g0067
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0005g0042
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0046g0046
a0001c0006t0005g0052
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0051g0337
a0001c0007t0020g0318
a0001c0007t0020g0321
a0001c0008t0008g0013
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0013t0009g0339
a0001c0015t0002g0049
a0001c0015t0002g0055
a0001c0018t0024g0047
a0001c0018t0024g0322
a0002c0005t0002g0009
a0002c0005t0002g0012
a0002c0005t0002g0039
a0002c0005t0002g0286
a0002c0005t0002g0317
a0002c0005t0008g0040
a0002c0005t0008g0044
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
 63 HG01081.hp1
HG01106.hp1
HG01167.hp2
others(60): Show 
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01169.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01952.hp1
HG01975.hp1
HG02074.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03654.hp2
HG03704.hp2
HG03942.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp1
NA18983.hp1
NA18985.hp1
NA19058.hp1
NA19079.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.67+3123A>G
c.67+3123A>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11092738
chr19:11092753 C
C
 G
G
 1 a0001c0007t0020g0035
a0001c0007t0020g0035
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.67+3138C>G
c.67+3138C>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11092753
chr19:11092798 G
G
 C
C
 2 a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0019g0117
a0001c0004t0019g0118
 2 HG02895.hp1
HG02897.hp1
HG02895.hp1
HG02897.hp1
 intron_variant MODIFIER c.67+3183G>C
c.67+3183G>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11092798
chr19:11092925 A
A
 T
T
 1 a0002c0005t0008g0277
a0002c0005t0008g0277
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.67+3310A>T
c.67+3310A>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11092925
chr19:11093085 C
C
 T
T
 2 a0001c0002t0006g0276
a0001c0027t0003g0275
a0001c0002t0006g0276
a0001c0027t0003g0275
 2 HG02055.hp1
HG03098.hp2
HG02055.hp1
HG03098.hp2
 intron_variant MODIFIER c.67+3470C>T
c.67+3470C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11093085
chr19:11093128 G
G
 A
A
 1 a0001c0003t0003g0119
a0001c0003t0003g0119
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.67+3513G>A
c.67+3513G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11093128
chr19:11093234 C
C
 G
G
 1 a0001c0006t0051g0337
a0001c0006t0051g0337
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.67+3619C>G
c.67+3619C>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11093234
chr19:11093252 C
C
 T
T
 1 a0002c0005t0002g0286
a0002c0005t0002g0286
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.67+3637C>T
c.67+3637C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11093252
chr19:11093259 C
C
 T
T
 1 a0001c0017t0001g0274
a0001c0017t0001g0274
 1 NA18952.hp2
NA18952.hp2
 intron_variant MODIFIER c.67+3644C>T
c.67+3644C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11093259
chr19:11093271 G
G
 A
A
 1 a0001c0007t0020g0035
a0001c0007t0020g0035
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.67+3656G>A
c.67+3656G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11093271
chr19:11093312 C
C
 T
T
 1 a0001c0001t0007g0273
a0001c0001t0007g0273
 1 NA18998.hp2
NA18998.hp2
 intron_variant MODIFIER c.67+3697C>T
c.67+3697C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11093312
chr19:11093378 C
C
 T
T
 2 a0004c0014t0004g0112
a0004c0014t0004g0113
a0004c0014t0004g0112
a0004c0014t0004g0113
 2 HG01891.hp2
HG02976.hp1
HG01891.hp2
HG02976.hp1
 intron_variant MODIFIER c.67+3763C>T
c.67+3763C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11093378
chr19:11093416 C
C
 CT
CT
 18 a0001c0001t0005g0102
a0001c0001t0007g0105
a0001c0001t0007g0106
others(15): Show 
a0001c0001t0005g0102
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0310
a0001c0001t0016g0104
a0001c0001t0016g0108
a0001c0001t0016g0109
a0001c0001t0027g0103
a0001c0001t0028g0107
a0001c0002t0001g0270
a0001c0002t0006g0114
a0001c0003t0001g0269
a0001c0003t0003g0272
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0007t0002g0271
a0001c0009t0017g0268
a0003c0011t0006g0336
 18 HG00544.hp2
HG00733.hp1
HG01109.hp1
others(15): Show 
HG00544.hp2
HG00733.hp1
HG01109.hp1
HG02056.hp2
HG02155.hp1
HG04184.hp1
HG04184.hp2
NA18941.hp2
NA18957.hp2
NA18962.hp2
NA18973.hp2
NA18979.hp1
NA18990.hp2
NA18998.hp1
NA19011.hp1
NA19058.hp1
NA19083.hp1
NA20129.hp2
 intron_variant MODIFIER c.67+3818dupT
c.67+3818dupT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 INFO_REALIGN_3_PRIME chr19 11093416
chr19:11093461 A
A
 C
C
 1 a0001c0003t0025g0022
a0001c0003t0025g0022
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.67+3846A>C
c.67+3846A>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11093461
chr19:11093488 C
C
 T
T
 1 a0001c0006t0006g0335
a0001c0006t0006g0335
 1 HG01975.hp1
HG01975.hp1
 intron_variant MODIFIER c.67+3873C>T
c.67+3873C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11093488
chr19:11093610 G
G
 T
T
 1 a0001c0002t0006g0114
a0001c0002t0006g0114
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.67+3995G>T
c.67+3995G>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11093610
chr19:11093674 C
C
 T
T
 16 a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
others(13): Show 
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0023g0051
a0001c0002t0006g0043
a0001c0004t0004g0048
a0001c0004t0005g0042
a0001c0004t0009g0045
a0001c0004t0046g0046
a0001c0006t0005g0052
a0001c0013t0004g0041
a0001c0015t0002g0049
a0001c0015t0002g0055
a0001c0018t0024g0047
a0002c0005t0008g0040
a0002c0005t0008g0044
 16 HG01884.hp2
HG01934.hp1
HG02258.hp1
others(13): Show 
HG01884.hp2
HG01934.hp1
HG02258.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02965.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.67+4059C>T
c.67+4059C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11093674
chr19:11093771 C
C
 T
T
 1 a0001c0001t0013g0054
a0001c0001t0013g0054
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.67+4156C>T
c.67+4156C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11093771
chr19:11093772 G
G
 A
A
 6 a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
others(3): Show 
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0008t0008g0013
a0002c0005t0002g0009
a0002c0005t0002g0012
 7 HG01952.hp1
HG02280.hp1
HG02559.hp1
others(4): Show 
HG01952.hp1
HG02280.hp1
HG02559.hp1
HG02615.hp1
HG03195.hp1
HG03453.hp2
NA18906.hp2
 intron_variant MODIFIER c.67+4157G>A
c.67+4157G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11093772
chr19:11093825 G
G
 A
A
 1 a0001c0004t0018g0120
a0001c0004t0018g0120
 1 NA18957.hp1
NA18957.hp1
 intron_variant MODIFIER c.67+4210G>A
c.67+4210G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11093825
chr19:11093886 C
C
 T
T
 39 a0001c0001t0007g0078
a0001c0001t0007g0079
a0001c0001t0007g0100
others(36): Show 
a0001c0001t0007g0078
a0001c0001t0007g0079
a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0310
a0001c0001t0016g0104
a0001c0001t0016g0108
a0001c0001t0016g0109
a0001c0001t0027g0103
a0001c0001t0028g0107
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0003t0003g0272
a0001c0003t0003g0302
a0001c0004t0001g0095
a0001c0004t0003g0063
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0039g0094
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0309
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0022t0005g0084
 39 HG00408.hp2
HG00423.hp1
HG00544.hp2
others(36): Show 
HG00408.hp2
HG00423.hp1
HG00544.hp2
HG01261.hp2
HG01496.hp2
HG02015.hp1
HG02148.hp1
HG02155.hp1
HG02273.hp1
HG02300.hp1
HG02523.hp2
NA18747.hp2
NA18939.hp1
NA18941.hp2
NA18950.hp2
NA18954.hp2
NA18957.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18973.hp1
NA18973.hp2
NA18979.hp1
NA18983.hp2
NA18985.hp2
NA18989.hp1
NA18990.hp1
NA18990.hp2
NA18998.hp1
NA19004.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19083.hp1
 intron_variant MODIFIER c.67+4271C>T
c.67+4271C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11093886
chr19:11093951 C
C
 T
T
 1 a0001c0001t0005g0102
a0001c0001t0005g0102
 1 HG00733.hp1
HG00733.hp1
 intron_variant MODIFIER c.67+4336C>T
c.67+4336C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11093951
chr19:11093972 C
C
 T
T
 1 a0002c0005t0002g0317
a0002c0005t0002g0317
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.67+4357C>T
c.67+4357C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11093972
chr19:11094136 G
G
 GTTTA
GTTTA
 4 a0001c0001t0013g0319
a0001c0003t0055g0320
a0001c0007t0020g0318
others(1): Show 
a0001c0001t0013g0319
a0001c0003t0055g0320
a0001c0007t0020g0318
a0001c0007t0020g0321
 4 HG01884.hp1
HG02970.hp1
HG03209.hp1
others(1): Show 
HG01884.hp1
HG02970.hp1
HG03209.hp1
HG03225.hp2
 intron_variant MODIFIER c.67+4544_67+4547dup
others(4): Show 
c.67+4544_67+4547dupTATT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 INFO_REALIGN_3_PRIME chr19 11094136
chr19:11094140 A
A
 G
G
 6 a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
others(3): Show 
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0008t0008g0013
a0002c0005t0002g0009
a0002c0005t0002g0012
 7 HG01952.hp1
HG02280.hp1
HG02559.hp1
others(4): Show 
HG01952.hp1
HG02280.hp1
HG02559.hp1
HG02615.hp1
HG03195.hp1
HG03453.hp2
NA18906.hp2
 intron_variant MODIFIER c.67+4525A>G
c.67+4525A>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11094140
chr19:11094207 G
G
 A
A
 4 a0001c0002t0006g0114
a0001c0004t0004g0278
a0001c0004t0004g0279
others(1): Show 
a0001c0002t0006g0114
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
 4 HG02735.hp1
HG03490.hp1
HG03654.hp2
others(1): Show 
HG02735.hp1
HG03490.hp1
HG03654.hp2
NA20129.hp2
 intron_variant MODIFIER c.67+4592G>A
c.67+4592G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11094207
chr19:11094306 G
G
 A
A
 17 a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
others(14): Show 
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0023g0051
a0001c0002t0006g0043
a0001c0004t0004g0048
a0001c0004t0005g0042
a0001c0004t0009g0045
a0001c0004t0046g0046
a0001c0006t0005g0052
a0001c0013t0004g0041
a0001c0015t0002g0049
a0001c0015t0002g0055
a0001c0018t0024g0047
a0002c0005t0002g0039
a0002c0005t0008g0040
a0002c0005t0008g0044
 17 HG01884.hp2
HG01934.hp1
HG02258.hp1
others(14): Show 
HG01884.hp2
HG01934.hp1
HG02258.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02965.hp1
HG03471.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.67+4691G>A
c.67+4691G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11094306
chr19:11094324 C
C
 A
A
 6 a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
others(3): Show 
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0008t0008g0013
a0002c0005t0002g0009
a0002c0005t0002g0012
 7 HG01952.hp1
HG02280.hp1
HG02559.hp1
others(4): Show 
HG01952.hp1
HG02280.hp1
HG02559.hp1
HG02615.hp1
HG03195.hp1
HG03453.hp2
NA18906.hp2
 intron_variant MODIFIER c.67+4709C>A
c.67+4709C>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11094324
chr19:11094461 A
A
 G
G
 3 a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
 3 HG02735.hp1
HG03490.hp1
HG03654.hp2
HG02735.hp1
HG03490.hp1
HG03654.hp2
 intron_variant MODIFIER c.67+4846A>G
c.67+4846A>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11094461
chr19:11094681 G
G
 A
A
 2 a0001c0013t0004g0338
a0001c0013t0009g0339
a0001c0013t0004g0338
a0001c0013t0009g0339
 2 HG02922.hp1
HG03453.hp1
HG02922.hp1
HG03453.hp1
 intron_variant MODIFIER c.67+5066G>A
c.67+5066G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11094681
chr19:11094874 C
C
 T
T
 2 a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0001t0021g0008
a0001c0001t0021g0267
 3 HG02559.hp2
HG02630.hp2
HG03041.hp2
HG02559.hp2
HG02630.hp2
HG03041.hp2
 intron_variant MODIFIER c.67+5259C>T
c.67+5259C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11094874
chr19:11095078 C
C
 T
T
 2 a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0100
a0001c0001t0007g0101
 2 NA18983.hp2
NA19067.hp2
NA18983.hp2
NA19067.hp2
 intron_variant MODIFIER c.68-5145C>T
c.68-5145C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11095078
chr19:11095243 A
A
 G
G
 1 a0001c0006t0006g0266
a0001c0006t0006g0266
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.68-4980A>G
c.68-4980A>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11095243
chr19:11095299 G
G
 A
A
 183 a0001c0001t0001g0297
a0001c0001t0007g0069
a0001c0001t0007g0070
others(180): Show 
a0001c0001t0001g0297
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0078
a0001c0001t0007g0079
a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0134
a0001c0001t0007g0157
a0001c0001t0007g0273
a0001c0001t0007g0303
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0007g0306
a0001c0001t0007g0307
a0001c0001t0007g0308
a0001c0001t0007g0310
a0001c0001t0010g0072
a0001c0001t0011g0073
a0001c0001t0011g0156
a0001c0001t0012g0071
a0001c0001t0012g0136
a0001c0001t0012g0158
a0001c0001t0012g0161
a0001c0001t0013g0319
a0001c0001t0015g0298
a0001c0001t0016g0104
a0001c0001t0016g0108
a0001c0001t0016g0109
a0001c0001t0027g0103
a0001c0001t0028g0107
a0001c0001t0029g0132
a0001c0001t0030g0159
a0001c0001t0031g0333
a0001c0001t0035g0020
a0001c0002t0001g0018
a0001c0002t0001g0130
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0042g0160
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0269
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0003g0014
a0001c0004t0004g0067
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0005g0042
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0036g0033
a0001c0004t0038g0036
a0001c0004t0046g0046
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0077
a0001c0006t0006g0266
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0007t0020g0035
a0001c0007t0020g0318
a0001c0007t0020g0321
a0001c0008t0008g0013
a0001c0008t0008g0019
a0001c0008t0008g0029
a0001c0008t0008g0065
a0001c0008t0008g0296
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0013t0009g0339
a0001c0015t0002g0055
a0001c0018t0024g0047
a0001c0018t0024g0322
a0001c0021t0008g0287
a0001c0023t0003g0291
a0001c0027t0003g0275
a0002c0005t0002g0009
a0002c0005t0002g0012
a0002c0005t0002g0028
a0002c0005t0002g0034
a0002c0005t0002g0039
a0002c0005t0002g0057
a0002c0005t0002g0155
a0002c0005t0002g0286
a0002c0005t0002g0317
a0002c0005t0002g0340
a0002c0005t0002g0341
a0002c0005t0002g0342
a0002c0005t0002g0343
a0002c0005t0002g0344
a0002c0005t0002g0345
a0002c0005t0002g0347
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
a0002c0025t0002g0056
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
a0004c0014t0004g0112
a0004c0014t0004g0113
a0005c0019t0007g0133
a0006c0024t0019g0346
 187 HG00423.hp2
HG00544.hp1
HG00558.hp1
others(184): Show 
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00738.hp2
HG01069.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp2
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03834.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18961.hp2
NA18962.hp2
NA18967.hp1
NA18968.hp2
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18979.hp1
NA18980.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18989.hp2
NA18990.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19011.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19058.hp1
NA19058.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.68-4924G>A
c.68-4924G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11095299
chr19:11095348 A
A
 G
G
 1 a0001c0001t0016g0109
a0001c0001t0016g0109
 1 NA18973.hp2
NA18973.hp2
 intron_variant MODIFIER c.68-4875A>G
c.68-4875A>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11095348
chr19:11095367 G
G
 A
A
 1 a0001c0001t0005g0162
a0001c0001t0005g0162
 1 NA19074.hp2
NA19074.hp2
 intron_variant MODIFIER c.68-4856G>A
c.68-4856G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11095367
chr19:11095405 C
C
 CT
CT
 41 a0001c0001t0007g0308
a0001c0001t0010g0265
a0001c0002t0006g0043
others(38): Show 
a0001c0001t0007g0308
a0001c0001t0010g0265
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0004t0001g0095
a0001c0004t0003g0014
a0001c0004t0003g0063
a0001c0004t0004g0067
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0111
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0005g0042
a0001c0004t0009g0045
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0036g0033
a0001c0004t0039g0094
a0001c0004t0046g0046
a0001c0006t0006g0098
a0001c0007t0002g0271
a0001c0015t0002g0055
a0001c0017t0001g0015
a0001c0018t0024g0047
a0001c0020t0056g0264
a0002c0005t0002g0263
a0002c0005t0002g0286
a0002c0005t0008g0044
a0002c0005t0008g0277
 41 HG00408.hp2
HG00544.hp2
HG01517.hp2
others(38): Show 
HG00408.hp2
HG00544.hp2
HG01517.hp2
HG01891.hp1
HG01934.hp2
HG02015.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02486.hp1
HG02523.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02896.hp2
HG02965.hp1
HG02970.hp2
HG03490.hp1
HG03579.hp1
HG03654.hp2
HG04184.hp2
NA18522.hp1
NA18939.hp1
NA18950.hp2
NA18969.hp1
NA18985.hp2
NA18990.hp1
NA19004.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19067.hp1
NA19068.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.68-4801dupT
c.68-4801dupT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 INFO_REALIGN_3_PRIME chr19 11095405
chr19:11095748 C
C
 T
T
 5 a0001c0001t0035g0020
a0001c0003t0003g0021
a0001c0003t0003g0030
others(2): Show 
a0001c0001t0035g0020
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0006g0031
 5 HG02486.hp2
HG02809.hp1
HG02896.hp1
others(2): Show 
HG02486.hp2
HG02809.hp1
HG02896.hp1
HG02897.hp2
HG03130.hp1
 intron_variant MODIFIER c.68-4475C>T
c.68-4475C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11095748
chr19:11095749 G
G
 A
A
 1 a0001c0004t0005g0042
a0001c0004t0005g0042
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.68-4474G>A
c.68-4474G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11095749
chr19:11095854 T
T
 A
A
 127 a0001c0001t0007g0134
a0001c0001t0007g0273
a0001c0001t0012g0136
others(124): Show 
a0001c0001t0007g0134
a0001c0001t0007g0273
a0001c0001t0012g0136
a0001c0001t0029g0132
a0001c0002t0001g0130
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0269
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0001g0095
a0001c0004t0003g0063
a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0005g0042
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0036g0033
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0004t0046g0046
a0001c0006t0006g0098
a0001c0006t0006g0266
a0001c0007t0020g0035
a0001c0008t0008g0065
a0001c0008t0008g0296
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0015t0002g0055
a0001c0017t0001g0015
a0001c0018t0024g0047
a0001c0021t0008g0287
a0001c0023t0003g0291
a0001c0026t0008g0348
a0001c0027t0003g0275
a0002c0005t0002g0009
a0002c0005t0002g0012
a0002c0005t0002g0039
a0002c0005t0002g0057
a0002c0005t0002g0155
a0002c0005t0002g0286
a0002c0005t0002g0317
a0002c0005t0002g0340
a0002c0005t0002g0341
a0002c0005t0002g0342
a0002c0005t0002g0343
a0002c0005t0002g0344
a0002c0005t0002g0345
a0002c0005t0002g0347
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
a0002c0025t0002g0056
a0004c0014t0004g0112
a0004c0014t0004g0113
a0005c0019t0007g0133
a0006c0024t0019g0346
 131 HG00408.hp2
HG00423.hp2
HG00544.hp1
others(128): Show 
HG00408.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00642.hp1
HG00738.hp2
HG01069.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01255.hp2
HG01261.hp1
HG01358.hp1
HG01516.hp2
HG01517.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01975.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02083.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02280.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18967.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18993.hp1
NA18998.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19043.hp1
NA19056.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19074.hp1
NA19080.hp2
NA19083.hp2
NA19085.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.68-4369T>A
c.68-4369T>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11095854
chr19:11095854 T
T
 C
C
 1 a0001c0004t0003g0014
a0001c0004t0003g0014
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.68-4369T>C
c.68-4369T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11095854
chr19:11095861 T
T
 C
C
 2 a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0087
a0001c0004t0004g0088
 2 HG02015.hp1
NA18950.hp2
HG02015.hp1
NA18950.hp2
 intron_variant MODIFIER c.68-4362T>C
c.68-4362T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11095861
chr19:11095899 G
G
 A
A
 257 a0001c0001t0001g0297
a0001c0001t0005g0060
a0001c0001t0005g0102
others(254): Show 
a0001c0001t0001g0297
a0001c0001t0005g0060
a0001c0001t0005g0102
a0001c0001t0005g0162
a0001c0001t0005g0172
a0001c0001t0005g0179
a0001c0001t0005g0184
a0001c0001t0005g0192
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0078
a0001c0001t0007g0079
a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0134
a0001c0001t0007g0157
a0001c0001t0007g0171
a0001c0001t0007g0176
a0001c0001t0007g0273
a0001c0001t0007g0303
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0007g0306
a0001c0001t0007g0307
a0001c0001t0007g0308
a0001c0001t0007g0310
a0001c0001t0010g0072
a0001c0001t0011g0073
a0001c0001t0011g0156
a0001c0001t0012g0071
a0001c0001t0012g0136
a0001c0001t0012g0158
a0001c0001t0012g0161
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0013g0319
a0001c0001t0015g0298
a0001c0001t0016g0104
a0001c0001t0016g0108
a0001c0001t0016g0109
a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0001t0023g0051
a0001c0001t0027g0103
a0001c0001t0028g0107
a0001c0001t0029g0132
a0001c0001t0030g0159
a0001c0001t0033g0182
a0001c0001t0034g0185
a0001c0001t0035g0020
a0001c0001t0037g0166
a0001c0002t0001g0018
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0269
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0001g0095
a0001c0004t0003g0014
a0001c0004t0003g0063
a0001c0004t0004g0048
a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0005g0042
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0036g0033
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0004t0046g0046
a0001c0006t0005g0052
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0077
a0001c0006t0006g0098
a0001c0006t0006g0266
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0007t0001g0165
a0001c0007t0001g0180
a0001c0007t0001g0181
a0001c0007t0002g0169
a0001c0007t0002g0170
a0001c0007t0002g0173
a0001c0007t0002g0188
a0001c0007t0002g0189
a0001c0007t0002g0191
a0001c0007t0002g0199
a0001c0007t0002g0271
a0001c0007t0002g0312
a0001c0007t0020g0035
a0001c0007t0020g0318
a0001c0007t0020g0321
a0001c0007t0041g0193
a0001c0007t0052g0177
a0001c0008t0008g0002
a0001c0008t0008g0013
a0001c0008t0008g0019
a0001c0008t0008g0029
a0001c0008t0008g0065
a0001c0008t0008g0167
a0001c0008t0008g0174
a0001c0008t0008g0175
a0001c0008t0008g0178
a0001c0008t0008g0183
a0001c0008t0008g0194
a0001c0008t0008g0296
a0001c0008t0047g0190
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0013t0009g0339
a0001c0015t0002g0049
a0001c0015t0002g0055
a0001c0017t0001g0015
a0001c0018t0024g0047
a0001c0018t0024g0322
a0001c0021t0008g0287
a0001c0023t0003g0291
a0001c0026t0008g0348
a0001c0027t0003g0275
a0002c0005t0002g0009
a0002c0005t0002g0012
a0002c0005t0002g0028
a0002c0005t0002g0034
a0002c0005t0002g0039
a0002c0005t0002g0057
a0002c0005t0002g0074
a0002c0005t0002g0155
a0002c0005t0002g0197
a0002c0005t0002g0198
a0002c0005t0002g0263
a0002c0005t0002g0286
a0002c0005t0002g0317
a0002c0005t0002g0340
a0002c0005t0002g0341
a0002c0005t0002g0342
a0002c0005t0002g0343
a0002c0005t0002g0344
a0002c0005t0002g0345
a0002c0005t0002g0347
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
a0002c0025t0002g0056
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
a0004c0014t0004g0112
a0004c0014t0004g0113
a0005c0019t0007g0133
a0006c0024t0019g0346
 264 HG00099.hp1
HG00323.hp2
HG00408.hp2
others(261): Show 
HG00099.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp1
HG00733.hp1
HG00735.hp1
HG00738.hp2
HG01069.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01496.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp2
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19058.hp1
NA19058.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.68-4324G>A
c.68-4324G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11095899
chr19:11095909 G
G
 A
A
 25 a0001c0002t0001g0018
a0001c0006t0006g0037
a0001c0006t0006g0038
others(22): Show 
a0001c0002t0001g0018
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0077
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0013t0009g0339
a0001c0018t0024g0322
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
 25 HG01081.hp1
HG01106.hp1
HG01167.hp2
others(22): Show 
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01169.hp2
HG01975.hp1
HG02074.hp1
HG02257.hp2
HG02723.hp1
HG02738.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03017.hp2
HG03225.hp1
HG03453.hp1
HG03540.hp1
HG03704.hp2
HG03834.hp2
NA18940.hp1
NA18954.hp2
NA18973.hp1
NA18983.hp1
NA18985.hp1
NA19058.hp1
NA19079.hp2
 intron_variant MODIFIER c.68-4314G>A
c.68-4314G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11095909
chr19:11096010 C
C
 T
T
 21 a0001c0002t0006g0114
a0001c0004t0001g0095
a0001c0004t0003g0063
others(18): Show 
a0001c0002t0006g0114
a0001c0004t0001g0095
a0001c0004t0003g0063
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0039g0094
a0001c0006t0006g0098
 21 HG00408.hp2
HG00544.hp2
HG02015.hp1
others(18): Show 
HG00408.hp2
HG00544.hp2
HG02015.hp1
HG02523.hp2
HG02735.hp1
HG03490.hp1
HG03654.hp2
NA18939.hp1
NA18941.hp2
NA18950.hp2
NA18969.hp1
NA18985.hp2
NA18989.hp1
NA18990.hp1
NA19004.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19067.hp1
NA19068.hp1
NA20129.hp2
 intron_variant MODIFIER c.68-4213C>T
c.68-4213C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11096010
chr19:11096053 T
T
 C
C
 9 a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
others(6): Show 
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0026t0008g0348
 10 HG00642.hp1
HG01109.hp1
HG01261.hp1
others(7): Show 
HG00642.hp1
HG01109.hp1
HG01261.hp1
HG01975.hp2
HG02083.hp2
HG02698.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp1
HG04204.hp2
 intron_variant MODIFIER c.68-4170T>C
c.68-4170T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11096053
chr19:11096234 G
G
 A
A
 1 a0001c0004t0004g0089
a0001c0004t0004g0089
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.68-3989G>A
c.68-3989G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11096234
chr19:11096292 C
C
 T
T
 1 a0001c0001t0007g0262
a0001c0001t0007g0262
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.68-3931C>T
c.68-3931C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11096292
chr19:11096293 G
G
 A
A
 9 a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
others(6): Show 
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0026t0008g0348
 10 HG00642.hp1
HG01109.hp1
HG01261.hp1
others(7): Show 
HG00642.hp1
HG01109.hp1
HG01261.hp1
HG01975.hp2
HG02083.hp2
HG02698.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp1
HG04204.hp2
 intron_variant MODIFIER c.68-3930G>A
c.68-3930G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11096293
chr19:11096426 T
T
 C
C
 157 a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0134
others(154): Show 
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0134
a0001c0001t0007g0273
a0001c0001t0012g0071
a0001c0001t0012g0136
a0001c0001t0029g0132
a0001c0002t0001g0018
a0001c0002t0001g0130
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0269
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0001g0095
a0001c0004t0003g0014
a0001c0004t0003g0063
a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0005g0042
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0036g0033
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0004t0046g0046
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0077
a0001c0006t0006g0098
a0001c0006t0006g0266
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0007t0020g0035
a0001c0007t0020g0318
a0001c0007t0020g0321
a0001c0008t0008g0065
a0001c0008t0008g0296
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0013t0009g0339
a0001c0015t0002g0055
a0001c0018t0024g0047
a0001c0018t0024g0322
a0001c0021t0008g0287
a0001c0023t0003g0291
a0001c0026t0008g0348
a0001c0027t0003g0275
a0002c0005t0002g0009
a0002c0005t0002g0012
a0002c0005t0002g0039
a0002c0005t0002g0057
a0002c0005t0002g0155
a0002c0005t0002g0286
a0002c0005t0002g0317
a0002c0005t0002g0340
a0002c0005t0002g0341
a0002c0005t0002g0342
a0002c0005t0002g0343
a0002c0005t0002g0344
a0002c0005t0002g0345
a0002c0005t0002g0347
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
a0002c0025t0002g0056
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
a0004c0014t0004g0112
a0004c0014t0004g0113
a0005c0019t0007g0133
a0006c0024t0019g0346
 161 HG00408.hp2
HG00423.hp2
HG00544.hp1
others(158): Show 
HG00408.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00642.hp1
HG00738.hp2
HG01069.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp2
HG01255.hp2
HG01261.hp1
HG01358.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03834.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp2
NA18967.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18975.hp1
NA18983.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18993.hp1
NA18998.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19043.hp1
NA19056.hp2
NA19058.hp1
NA19064.hp2
NA19065.hp2
NA19067.hp1
NA19068.hp1
NA19074.hp1
NA19079.hp2
NA19080.hp2
NA19083.hp2
NA19085.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.68-3797T>C
c.68-3797T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11096426
chr19:11096525 G
G
 A
A
 1 a0001c0002t0001g0299
a0001c0002t0001g0299
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.68-3698G>A
c.68-3698G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11096525
chr19:11096735 G
G
 A
A
 1 a0001c0004t0004g0279
a0001c0004t0004g0279
 1 HG03654.hp2
HG03654.hp2
 intron_variant MODIFIER c.68-3488G>A
c.68-3488G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11096735
chr19:11096781 C
C
 T
T
 4 a0001c0004t0009g0003
a0001c0004t0009g0011
a0002c0005t0002g0009
others(1): Show 
a0001c0004t0009g0003
a0001c0004t0009g0011
a0002c0005t0002g0009
a0002c0005t0002g0012
 5 HG01952.hp1
HG02559.hp1
HG02615.hp1
others(2): Show 
HG01952.hp1
HG02559.hp1
HG02615.hp1
HG03195.hp1
HG03453.hp2
 intron_variant MODIFIER c.68-3442C>T
c.68-3442C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11096781
chr19:11096785 C
C
 T
T
 1 a0001c0002t0001g0261
a0001c0002t0001g0261
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.68-3438C>T
c.68-3438C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11096785
chr19:11096840 G
G
 A
A
 4 a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
others(1): Show 
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
 4 HG02698.hp1
HG03704.hp1
HG03831.hp1
others(1): Show 
HG02698.hp1
HG03704.hp1
HG03831.hp1
HG04204.hp2
 intron_variant MODIFIER c.68-3383G>A
c.68-3383G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11096840
chr19:11096995 T
T
 A
A
 21 a0001c0002t0006g0114
a0001c0004t0001g0095
a0001c0004t0003g0063
others(18): Show 
a0001c0002t0006g0114
a0001c0004t0001g0095
a0001c0004t0003g0063
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0039g0094
a0001c0006t0006g0098
 21 HG00408.hp2
HG00544.hp2
HG02015.hp1
others(18): Show 
HG00408.hp2
HG00544.hp2
HG02015.hp1
HG02523.hp2
HG02735.hp1
HG03490.hp1
HG03654.hp2
NA18939.hp1
NA18941.hp2
NA18950.hp2
NA18969.hp1
NA18985.hp2
NA18989.hp1
NA18990.hp1
NA19004.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19067.hp1
NA19068.hp1
NA20129.hp2
 intron_variant MODIFIER c.68-3228T>A
c.68-3228T>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11096995
chr19:11097068 C
C
 CT
CT
 85 a0001c0001t0016g0108
a0001c0001t0028g0107
a0001c0002t0001g0018
others(82): Show 
a0001c0001t0016g0108
a0001c0001t0028g0107
a0001c0002t0001g0018
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0269
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0004t0001g0095
a0001c0004t0003g0063
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0011
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0036g0033
a0001c0004t0039g0094
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0077
a0001c0006t0006g0098
a0001c0006t0006g0266
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0007t0002g0199
a0001c0008t0008g0065
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0013t0009g0339
a0001c0018t0024g0047
a0001c0018t0024g0322
a0002c0005t0002g0009
a0002c0005t0002g0012
a0002c0005t0002g0057
a0002c0005t0002g0155
a0002c0005t0002g0317
a0002c0005t0002g0340
a0002c0005t0002g0341
a0002c0005t0002g0342
a0002c0005t0002g0343
a0002c0005t0002g0344
a0002c0005t0002g0345
a0002c0005t0002g0347
a0003c0011t0006g0323
a0003c0011t0006g0328
a0006c0024t0019g0346
 88 HG00408.hp2
HG00544.hp2
HG00738.hp2
others(85): Show 
HG00408.hp2
HG00544.hp2
HG00738.hp2
HG01069.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01255.hp2
HG01358.hp1
HG01516.hp2
HG01517.hp1
HG01952.hp1
HG01975.hp1
HG01981.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02074.hp1
HG02080.hp1
HG02155.hp2
HG02257.hp2
HG02523.hp2
HG02559.hp1
HG02615.hp1
HG02622.hp1
HG02723.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG03017.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03834.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18939.hp1
NA18940.hp1
NA18941.hp2
NA18943.hp1
NA18950.hp2
NA18954.hp2
NA18968.hp2
NA18969.hp1
NA18971.hp2
NA18973.hp1
NA18983.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18989.hp1
NA18990.hp1
NA18990.hp2
NA18993.hp1
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19056.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
 intron_variant MODIFIER c.68-3139dupT
c.68-3139dupT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 INFO_REALIGN_3_PRIME chr19 11097068
chr19:11097068 CTT
CTT
 C
C
 9 a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
others(6): Show 
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0026t0008g0348
 10 HG00642.hp1
HG01109.hp1
HG01261.hp1
others(7): Show 
HG00642.hp1
HG01109.hp1
HG01261.hp1
HG01975.hp2
HG02083.hp2
HG02698.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp1
HG04204.hp2
 intron_variant MODIFIER c.68-3140_68-3139del
others(2): Show 
c.68-3140_68-3139delTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 INFO_REALIGN_3_PRIME chr19 11097068
chr19:11097101 C
C
 T
T
 9 a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
others(6): Show 
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0026t0008g0348
 10 HG00642.hp1
HG01109.hp1
HG01261.hp1
others(7): Show 
HG00642.hp1
HG01109.hp1
HG01261.hp1
HG01975.hp2
HG02083.hp2
HG02698.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp1
HG04204.hp2
 intron_variant MODIFIER c.68-3122C>T
c.68-3122C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11097101
chr19:11097102 G
G
 A
A
 3 a0001c0003t0003g0115
a0001c0003t0003g0288
a0001c0021t0008g0287
a0001c0003t0003g0115
a0001c0003t0003g0288
a0001c0021t0008g0287
 3 HG00621.hp1
HG02056.hp1
NA18967.hp1
HG00621.hp1
HG02056.hp1
NA18967.hp1
 intron_variant MODIFIER c.68-3121G>A
c.68-3121G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11097102
chr19:11097155 C
C
 T
T
 2 a0002c0005t0002g0155
a0002c0005t0002g0317
a0002c0005t0002g0155
a0002c0005t0002g0317
 2 NA18522.hp2
NA18906.hp1
NA18522.hp2
NA18906.hp1
 intron_variant MODIFIER c.68-3068C>T
c.68-3068C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11097155
chr19:11097219 T
T
 C
C
 2 a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0200
a0001c0002t0001g0201
 2 HG03239.hp1
HG03490.hp2
HG03239.hp1
HG03490.hp2
 intron_variant MODIFIER c.68-3004T>C
c.68-3004T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11097219
chr19:11097298 G
G
 A
A
 1 a0001c0001t0011g0156
a0001c0001t0011g0156
 1 NA19068.hp2
NA19068.hp2
 intron_variant MODIFIER c.68-2925G>A
c.68-2925G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11097298
chr19:11097306 T
T
 C
C
 164 a0001c0001t0001g0297
a0001c0001t0007g0069
a0001c0001t0007g0070
others(161): Show 
a0001c0001t0001g0297
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0134
a0001c0001t0007g0273
a0001c0001t0012g0071
a0001c0001t0012g0136
a0001c0001t0015g0298
a0001c0001t0029g0132
a0001c0002t0001g0018
a0001c0002t0001g0130
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0001g0095
a0001c0004t0003g0014
a0001c0004t0003g0063
a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0005g0042
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0036g0033
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0004t0046g0046
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0077
a0001c0006t0006g0098
a0001c0006t0006g0266
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0007t0020g0035
a0001c0007t0020g0318
a0001c0007t0020g0321
a0001c0008t0008g0065
a0001c0008t0008g0296
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0013t0009g0339
a0001c0015t0002g0055
a0001c0018t0024g0047
a0001c0018t0024g0322
a0001c0021t0008g0287
a0001c0023t0003g0291
a0001c0026t0008g0348
a0001c0027t0003g0275
a0002c0005t0002g0009
a0002c0005t0002g0012
a0002c0005t0002g0039
a0002c0005t0002g0057
a0002c0005t0002g0155
a0002c0005t0002g0286
a0002c0005t0002g0317
a0002c0005t0002g0340
a0002c0005t0002g0341
a0002c0005t0002g0342
a0002c0005t0002g0343
a0002c0005t0002g0344
a0002c0005t0002g0345
a0002c0005t0002g0347
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
a0002c0025t0002g0056
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
a0004c0014t0004g0112
a0004c0014t0004g0113
a0005c0019t0007g0133
a0006c0024t0019g0346
 168 HG00408.hp2
HG00423.hp2
HG00544.hp1
others(165): Show 
HG00408.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00642.hp1
HG00738.hp2
HG01069.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp2
HG01255.hp2
HG01261.hp1
HG01358.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03834.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18979.hp1
NA18983.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18993.hp1
NA18998.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19043.hp1
NA19056.hp2
NA19058.hp1
NA19064.hp2
NA19065.hp2
NA19067.hp1
NA19068.hp1
NA19074.hp1
NA19079.hp2
NA19080.hp2
NA19083.hp2
NA19085.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.68-2917T>C
c.68-2917T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11097306
chr19:11097330 G
G
 A
A
 2 a0001c0004t0038g0036
a0001c0007t0020g0035
a0001c0004t0038g0036
a0001c0007t0020g0035
 2 HG02965.hp2
NA19043.hp1
HG02965.hp2
NA19043.hp1
 intron_variant MODIFIER c.68-2893G>A
c.68-2893G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11097330
chr19:11097343 T
T
 C
C
 1 a0001c0006t0006g0309
a0001c0006t0006g0309
 1 NA18973.hp1
NA18973.hp1
 intron_variant MODIFIER c.68-2880T>C
c.68-2880T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11097343
chr19:11097404 T
T
 A
A
 21 a0001c0002t0006g0114
a0001c0004t0001g0095
a0001c0004t0003g0063
others(18): Show 
a0001c0002t0006g0114
a0001c0004t0001g0095
a0001c0004t0003g0063
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0039g0094
a0001c0006t0006g0098
 21 HG00408.hp2
HG00544.hp2
HG02015.hp1
others(18): Show 
HG00408.hp2
HG00544.hp2
HG02015.hp1
HG02523.hp2
HG02735.hp1
HG03490.hp1
HG03654.hp2
NA18939.hp1
NA18941.hp2
NA18950.hp2
NA18969.hp1
NA18985.hp2
NA18989.hp1
NA18990.hp1
NA19004.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19067.hp1
NA19068.hp1
NA20129.hp2
 intron_variant MODIFIER c.68-2819T>A
c.68-2819T>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11097404
chr19:11097406 A
A
 G
G
 1 a0001c0006t0049g0062
a0001c0006t0049g0062
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.68-2817A>G
c.68-2817A>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11097406
chr19:11097721 C
C
 T
T
 3 a0002c0005t0002g0074
a0002c0005t0002g0197
a0002c0005t0002g0198
a0002c0005t0002g0074
a0002c0005t0002g0197
a0002c0005t0002g0198
 3 HG03041.hp1
NA19240.hp2
NA20300.hp2
HG03041.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.68-2502C>T
c.68-2502C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11097721
chr19:11097851 G
G
 C
C
 1 a0001c0002t0001g0206
a0001c0002t0001g0206
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.68-2372G>C
c.68-2372G>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11097851
chr19:11097890 A
A
 T
T
 3 a0001c0003t0025g0022
a0002c0005t0002g0155
a0002c0005t0002g0317
a0001c0003t0025g0022
a0002c0005t0002g0155
a0002c0005t0002g0317
 3 HG03130.hp2
NA18522.hp2
NA18906.hp1
HG03130.hp2
NA18522.hp2
NA18906.hp1
 intron_variant MODIFIER c.68-2333A>T
c.68-2333A>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11097890
chr19:11098409 T
T
 C
C
 1 a0001c0004t0003g0014
a0001c0004t0003g0014
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.68-1814T>C
c.68-1814T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11098409
chr19:11098587 C
C
 T
T
 2 a0001c0027t0003g0275
a0002c0025t0002g0056
a0001c0027t0003g0275
a0002c0025t0002g0056
 2 HG02280.hp2
HG03098.hp2
HG02280.hp2
HG03098.hp2
 intron_variant MODIFIER c.68-1636C>T
c.68-1636C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11098587
chr19:11098795 AG
AG
 A
A
 8 a0001c0002t0006g0043
a0001c0004t0009g0045
a0001c0004t0046g0046
others(5): Show 
a0001c0002t0006g0043
a0001c0004t0009g0045
a0001c0004t0046g0046
a0001c0015t0002g0055
a0001c0018t0024g0047
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
 8 HG01934.hp1
HG02717.hp1
HG02717.hp2
others(5): Show 
HG01934.hp1
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02965.hp1
HG03579.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.68-1427delG
c.68-1427delG
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11098795
chr19:11098859 C
C
 A
A
 25 a0001c0002t0001g0018
a0001c0006t0006g0037
a0001c0006t0006g0038
others(22): Show 
a0001c0002t0001g0018
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0077
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0013t0009g0339
a0001c0018t0024g0322
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
 25 HG01081.hp1
HG01106.hp1
HG01167.hp2
others(22): Show 
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01169.hp2
HG01975.hp1
HG02074.hp1
HG02257.hp2
HG02723.hp1
HG02738.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03017.hp2
HG03225.hp1
HG03453.hp1
HG03540.hp1
HG03704.hp2
HG03834.hp2
NA18940.hp1
NA18954.hp2
NA18973.hp1
NA18983.hp1
NA18985.hp1
NA19058.hp1
NA19079.hp2
 intron_variant MODIFIER c.68-1364C>A
c.68-1364C>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11098859
chr19:11098900 G
G
 A
A
 9 a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
others(6): Show 
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0026t0008g0348
 10 HG00642.hp1
HG01109.hp1
HG01261.hp1
others(7): Show 
HG00642.hp1
HG01109.hp1
HG01261.hp1
HG01975.hp2
HG02083.hp2
HG02698.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp1
HG04204.hp2
 intron_variant MODIFIER c.68-1323G>A
c.68-1323G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11098900
chr19:11098953 G
G
 A
A
 9 a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
others(6): Show 
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0026t0008g0348
 10 HG00642.hp1
HG01109.hp1
HG01261.hp1
others(7): Show 
HG00642.hp1
HG01109.hp1
HG01261.hp1
HG01975.hp2
HG02083.hp2
HG02698.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp1
HG04204.hp2
 intron_variant MODIFIER c.68-1270G>A
c.68-1270G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11098953
chr19:11098971 G
G
 A
A
 2 a0001c0004t0009g0010
a0001c0008t0008g0013
a0001c0004t0009g0010
a0001c0008t0008g0013
 2 HG02280.hp1
NA18906.hp2
HG02280.hp1
NA18906.hp2
 intron_variant MODIFIER c.68-1252G>A
c.68-1252G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11098971
chr19:11098993 CA
CA
 C
C
 9 a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
others(6): Show 
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0026t0008g0348
 10 HG00642.hp1
HG01109.hp1
HG01261.hp1
others(7): Show 
HG00642.hp1
HG01109.hp1
HG01261.hp1
HG01975.hp2
HG02083.hp2
HG02698.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp1
HG04204.hp2
 intron_variant MODIFIER c.68-1221delA
c.68-1221delA
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 INFO_REALIGN_3_PRIME chr19 11098993
chr19:11099046 C
C
 A
A
 9 a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
others(6): Show 
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0026t0008g0348
 10 HG00642.hp1
HG01109.hp1
HG01261.hp1
others(7): Show 
HG00642.hp1
HG01109.hp1
HG01261.hp1
HG01975.hp2
HG02083.hp2
HG02698.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp1
HG04204.hp2
 intron_variant MODIFIER c.68-1177C>A
c.68-1177C>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11099046
chr19:11099081 C
C
 CCAAA
CCAAA
 9 a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
others(6): Show 
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0026t0008g0348
 10 HG00642.hp1
HG01109.hp1
HG01261.hp1
others(7): Show 
HG00642.hp1
HG01109.hp1
HG01261.hp1
HG01975.hp2
HG02083.hp2
HG02698.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp1
HG04204.hp2
 intron_variant MODIFIER c.68-1140_68-1139ins
others(4): Show 
c.68-1140_68-1139insAACA
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 INFO_REALIGN_3_PRIME chr19 11099081
chr19:11099088 C
C
 T
T
 9 a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
others(6): Show 
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0026t0008g0348
 10 HG00642.hp1
HG01109.hp1
HG01261.hp1
others(7): Show 
HG00642.hp1
HG01109.hp1
HG01261.hp1
HG01975.hp2
HG02083.hp2
HG02698.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp1
HG04204.hp2
 intron_variant MODIFIER c.68-1135C>T
c.68-1135C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11099088
chr19:11099136 A
A
 G
G
 1 a0001c0001t0005g0162
a0001c0001t0005g0162
 1 NA19074.hp2
NA19074.hp2
 intron_variant MODIFIER c.68-1087A>G
c.68-1087A>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11099136
chr19:11099147 T
T
 C
C
 2 a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0016t0001g0081
a0001c0016t0001g0082
 2 HG00423.hp1
NA18966.hp1
HG00423.hp1
NA18966.hp1
 intron_variant MODIFIER c.68-1076T>C
c.68-1076T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11099147
chr19:11099312 TTTCTTCC
others(13): Show 
TTTCTTCCACCTTAATGATTA
 T
T
 32 a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0269
others(29): Show 
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0269
a0001c0003t0003g0143
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0004t0006g0145
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0036g0033
a0001c0006t0006g0266
a0002c0005t0002g0057
a0002c0005t0002g0155
a0002c0005t0002g0317
a0002c0005t0002g0340
a0002c0005t0002g0341
a0002c0005t0002g0342
a0002c0005t0002g0343
a0002c0005t0002g0344
a0002c0005t0002g0345
a0002c0005t0002g0347
a0006c0024t0019g0346
 34 HG00738.hp2
HG01069.hp1
HG01071.hp2
others(31): Show 
HG00738.hp2
HG01069.hp1
HG01071.hp2
HG01109.hp2
HG01255.hp2
HG01358.hp1
HG01516.hp2
HG01517.hp1
HG01981.hp1
HG02055.hp2
HG02056.hp2
HG02155.hp2
HG02622.hp1
HG02886.hp1
HG03098.hp1
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03579.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18943.hp1
NA18968.hp2
NA18971.hp2
NA18986.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp2
NA19005.hp2
NA19056.hp2
NA19064.hp2
NA19083.hp2
NA19085.hp1
 intron_variant MODIFIER c.68-909_68-890delTC
others(18): Show 
c.68-909_68-890delTCTTCCACCTTAATGATTAT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 INFO_REALIGN_3_PRIME chr19 11099312
chr19:11099328 G
G
 C
C
 25 a0001c0002t0001g0018
a0001c0006t0006g0037
a0001c0006t0006g0038
others(22): Show 
a0001c0002t0001g0018
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0077
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0013t0009g0339
a0001c0018t0024g0322
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
 25 HG01081.hp1
HG01106.hp1
HG01167.hp2
others(22): Show 
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01169.hp2
HG01975.hp1
HG02074.hp1
HG02257.hp2
HG02723.hp1
HG02738.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03017.hp2
HG03225.hp1
HG03453.hp1
HG03540.hp1
HG03704.hp2
HG03834.hp2
NA18940.hp1
NA18954.hp2
NA18973.hp1
NA18983.hp1
NA18985.hp1
NA19058.hp1
NA19079.hp2
 intron_variant MODIFIER c.68-895G>C
c.68-895G>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11099328
chr19:11099440 T
T
 C
C
 1 a0001c0002t0014g0207
a0001c0002t0014g0207
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.68-783T>C
c.68-783T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11099440
chr19:11099481 C
C
 T
T
 2 a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0037
a0001c0006t0006g0038
 2 HG02922.hp2
HG03225.hp1
HG02922.hp2
HG03225.hp1
 intron_variant MODIFIER c.68-742C>T
c.68-742C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11099481
chr19:11099578 G
G
 C
C
 9 a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
others(6): Show 
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0026t0008g0348
 10 HG00642.hp1
HG01109.hp1
HG01261.hp1
others(7): Show 
HG00642.hp1
HG01109.hp1
HG01261.hp1
HG01975.hp2
HG02083.hp2
HG02698.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp1
HG04204.hp2
 intron_variant MODIFIER c.68-645G>C
c.68-645G>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11099578
chr19:11099588 T
T
 A
A
 1 a0001c0003t0005g0137
a0001c0003t0005g0137
 1 NA18968.hp2
NA18968.hp2
 intron_variant MODIFIER c.68-635T>A
c.68-635T>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11099588
chr19:11099638 G
G
 A
A
 9 a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
others(6): Show 
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0026t0008g0348
 10 HG00642.hp1
HG01109.hp1
HG01261.hp1
others(7): Show 
HG00642.hp1
HG01109.hp1
HG01261.hp1
HG01975.hp2
HG02083.hp2
HG02698.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp1
HG04204.hp2
 intron_variant MODIFIER c.68-585G>A
c.68-585G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11099638
chr19:11099661 G
G
 T
T
 1 a0001c0001t0007g0262
a0001c0001t0007g0262
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.68-562G>T
c.68-562G>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11099661
chr19:11099858 A
A
 G
G
 1 a0001c0004t0004g0196
a0001c0004t0004g0196
 1 HG02129.hp2
HG02129.hp2
 intron_variant MODIFIER c.68-365A>G
c.68-365A>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 1/17 chr19 11099858
chr19:11100401 G
G
 A
A
 32 a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0269
others(29): Show 
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0269
a0001c0003t0003g0143
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0004t0006g0145
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0036g0033
a0001c0006t0006g0266
a0002c0005t0002g0057
a0002c0005t0002g0155
a0002c0005t0002g0317
a0002c0005t0002g0340
a0002c0005t0002g0341
a0002c0005t0002g0342
a0002c0005t0002g0343
a0002c0005t0002g0344
a0002c0005t0002g0345
a0002c0005t0002g0347
a0006c0024t0019g0346
 34 HG00738.hp2
HG01069.hp1
HG01071.hp2
others(31): Show 
HG00738.hp2
HG01069.hp1
HG01071.hp2
HG01109.hp2
HG01255.hp2
HG01358.hp1
HG01516.hp2
HG01517.hp1
HG01981.hp1
HG02055.hp2
HG02056.hp2
HG02155.hp2
HG02622.hp1
HG02886.hp1
HG03098.hp1
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03579.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18943.hp1
NA18968.hp2
NA18971.hp2
NA18986.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp2
NA19005.hp2
NA19056.hp2
NA19064.hp2
NA19083.hp2
NA19085.hp1
 intron_variant MODIFIER c.190+56G>A
c.190+56G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11100401
chr19:11100403 C
C
 T
T
 24 a0001c0001t0007g0134
a0001c0001t0007g0273
a0001c0001t0012g0136
others(21): Show 
a0001c0001t0007g0134
a0001c0001t0007g0273
a0001c0001t0012g0136
a0001c0001t0029g0132
a0001c0002t0001g0130
a0001c0003t0001g0202
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0057g0127
a0001c0003t0059g0129
a0001c0027t0003g0275
a0002c0025t0002g0056
a0005c0019t0007g0133
 24 HG00423.hp2
HG00544.hp1
HG00558.hp1
others(21): Show 
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG02074.hp2
HG02280.hp2
HG03098.hp2
HG03130.hp2
HG06807.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp2
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18964.hp2
NA18969.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18979.hp1
NA18998.hp2
NA19007.hp1
NA19074.hp1
 intron_variant MODIFIER c.190+58C>T
c.190+58C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11100403
chr19:11100411 C
C
 T
T
 1 a0001c0001t0012g0136
a0001c0001t0012g0136
 1 NA18975.hp1
NA18975.hp1
 intron_variant MODIFIER c.190+66C>T
c.190+66C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11100411
chr19:11100421 C
C
 G
G
 1 a0001c0001t0013g0053
a0001c0001t0013g0053
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.190+76C>G
c.190+76C>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11100421
chr19:11100532 G
G
 A
A
 4 a0001c0004t0009g0003
a0001c0004t0009g0011
a0002c0005t0002g0009
others(1): Show 
a0001c0004t0009g0003
a0001c0004t0009g0011
a0002c0005t0002g0009
a0002c0005t0002g0012
 5 HG01952.hp1
HG02559.hp1
HG02615.hp1
others(2): Show 
HG01952.hp1
HG02559.hp1
HG02615.hp1
HG03195.hp1
HG03453.hp2
 intron_variant MODIFIER c.190+187G>A
c.190+187G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11100532
chr19:11100761 C
C
 CT
CT
 56 a0001c0001t0007g0134
a0001c0001t0007g0273
a0001c0001t0012g0136
others(53): Show 
a0001c0001t0007g0134
a0001c0001t0007g0273
a0001c0001t0012g0136
a0001c0001t0029g0132
a0001c0002t0001g0018
a0001c0002t0001g0130
a0001c0002t0001g0260
a0001c0002t0001g0270
a0001c0002t0014g0207
a0001c0002t0015g0195
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0003g0115
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0054g0125
a0001c0003t0057g0127
a0001c0003t0059g0129
a0001c0004t0003g0014
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0007t0002g0301
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0013t0009g0339
a0001c0018t0024g0322
a0001c0027t0003g0275
a0002c0005t0002g0057
a0002c0025t0002g0056
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
a0005c0019t0007g0133
 56 HG00423.hp2
HG00438.hp1
HG00544.hp1
others(53): Show 
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01169.hp2
HG01975.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp2
HG02622.hp1
HG02723.hp1
HG02738.hp1
HG02738.hp2
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp1
HG03453.hp1
HG03540.hp1
HG03704.hp2
HG03834.hp2
HG04115.hp2
HG04184.hp1
HG06807.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp2
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18964.hp2
NA18967.hp1
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18979.hp1
NA18983.hp1
NA18985.hp1
NA18998.hp2
NA19007.hp1
NA19058.hp1
NA19064.hp2
NA19079.hp2
 intron_variant MODIFIER c.190+435dupT
c.190+435dupT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 INFO_REALIGN_3_PRIME chr19 11100761
chr19:11100761 CT
CT
 C
C
 8 a0001c0001t0007g0262
a0001c0001t0007g0308
a0001c0001t0035g0020
others(5): Show 
a0001c0001t0007g0262
a0001c0001t0007g0308
a0001c0001t0035g0020
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0006g0031
a0001c0012t0015g0208
a0002c0005t0002g0197
 8 HG02486.hp2
HG02809.hp1
HG02897.hp2
others(5): Show 
HG02486.hp2
HG02809.hp1
HG02897.hp2
HG03017.hp1
HG03041.hp1
HG03130.hp1
NA19009.hp1
NA19065.hp1
 intron_variant MODIFIER c.190+435delT
c.190+435delT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 INFO_REALIGN_3_PRIME chr19 11100761
chr19:11100793 C
C
 T
T
 1 a0001c0001t0010g0259
a0001c0001t0010g0259
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.190+448C>T
c.190+448C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11100793
chr19:11100794 G
G
 A
A
 3 a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0013t0009g0339
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0013t0009g0339
 3 HG02922.hp1
HG03453.hp1
HG03540.hp1
HG02922.hp1
HG03453.hp1
HG03540.hp1
 intron_variant MODIFIER c.190+449G>A
c.190+449G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11100794
chr19:11100836 C
C
 A
A
 2 a0002c0005t0002g0155
a0002c0005t0002g0317
a0002c0005t0002g0155
a0002c0005t0002g0317
 2 NA18522.hp2
NA18906.hp1
NA18522.hp2
NA18906.hp1
 intron_variant MODIFIER c.190+491C>A
c.190+491C>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11100836
chr19:11100848 C
C
 T
T
 1 a0001c0006t0006g0061
a0001c0006t0006g0061
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.190+503C>T
c.190+503C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11100848
chr19:11100923 C
C
 T
T
 2 a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0204
a0001c0003t0003g0205
 2 NA18948.hp1
NA18964.hp2
NA18948.hp1
NA18964.hp2
 intron_variant MODIFIER c.190+578C>T
c.190+578C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11100923
chr19:11101213 C
C
 T
T
 2 a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0151
a0001c0004t0009g0152
 2 HG01109.hp2
HG03139.hp1
HG01109.hp2
HG03139.hp1
 intron_variant MODIFIER c.190+868C>T
c.190+868C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11101213
chr19:11101214 G
G
 A
A
 1 a0001c0003t0005g0138
a0001c0003t0005g0138
 1 HG01981.hp1
HG01981.hp1
 intron_variant MODIFIER c.190+869G>A
c.190+869G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11101214
chr19:11101303 G
G
 A
A
 2 a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0163
a0001c0003t0003g0164
 2 HG02809.hp2
HG03516.hp1
HG02809.hp2
HG03516.hp1
 intron_variant MODIFIER c.190+958G>A
c.190+958G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11101303
chr19:11101449 TTGTTTTT
others(14): Show 
TTGTTTTTTTCTTTTTCTTTTC
 T
T
 1 a0001c0003t0025g0135
a0001c0003t0025g0135
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.190+1106_190+1126d
others(23): Show 
c.190+1106_190+1126delGTTTTTTTCTTTTTCTTTTCT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 INFO_REALIGN_3_PRIME chr19 11101449
chr19:11101450 TGTTTTTT
others(13): Show 
TGTTTTTTTCTTTTTCTTTTC
 T
T
 1 a0001c0003t0025g0022
a0001c0003t0025g0022
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.190+1106_190+1125d
others(22): Show 
c.190+1106_190+1125delGTTTTTTTCTTTTTCTTTTC
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11101450
chr19:11101451 G
G
 T
T
 1 a0001c0008t0008g0065
a0001c0008t0008g0065
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.190+1106G>T
c.190+1106G>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11101451
chr19:11101470 C
C
 CTTTTTTT
CTTTTTTT
 18 a0001c0002t0001g0130
a0001c0003t0001g0202
a0001c0003t0003g0124
others(15): Show 
a0001c0002t0001g0130
a0001c0003t0001g0202
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0026g0064
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0057g0127
a0001c0003t0059g0129
a0001c0004t0003g0014
a0001c0027t0003g0275
a0002c0025t0002g0056
 18 HG00423.hp2
HG00544.hp1
HG00558.hp1
others(15): Show 
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG02074.hp2
HG02145.hp1
HG02280.hp2
HG03098.hp2
NA18941.hp1
NA18942.hp2
NA18948.hp1
NA18948.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18979.hp1
NA19007.hp1
NA19074.hp1
 intron_variant MODIFIER c.190+1135_190+1141d
others(9): Show 
c.190+1135_190+1141dupTTTTTTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 INFO_REALIGN_3_PRIME chr19 11101470
chr19:11101470 C
C
 CTTTTTTT
others(1): Show 
CTTTTTTTT
 27 a0001c0001t0007g0134
a0001c0001t0007g0273
a0001c0001t0012g0136
others(24): Show 
a0001c0001t0007g0134
a0001c0001t0007g0273
a0001c0001t0012g0136
a0001c0001t0029g0132
a0001c0002t0001g0018
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0077
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0013t0004g0338
a0001c0013t0009g0339
a0001c0018t0024g0322
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
a0005c0019t0007g0133
 27 HG01081.hp1
HG01106.hp1
HG01167.hp2
others(24): Show 
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01169.hp2
HG01975.hp1
HG02074.hp1
HG02257.hp2
HG02723.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03017.hp2
HG03225.hp1
HG03453.hp1
HG03704.hp2
HG03834.hp2
NA18940.hp2
NA18945.hp2
NA18954.hp2
NA18969.hp2
NA18973.hp1
NA18975.hp1
NA18983.hp1
NA18985.hp1
NA18998.hp2
NA19058.hp1
NA19079.hp2
 intron_variant MODIFIER c.190+1134_190+1141d
others(10): Show 
c.190+1134_190+1141dupTTTTTTTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 INFO_REALIGN_3_PRIME chr19 11101470
chr19:11101470 C
C
 CTTTTTTT
others(2): Show 
CTTTTTTTTT
 11 a0001c0002t0006g0043
a0001c0006t0006g0331
a0001c0006t0006g0332
others(8): Show 
a0001c0002t0006g0043
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0010t0005g0023
a0001c0010t0010g0024
a0001c0013t0004g0041
a0001c0026t0008g0348
 12 HG00642.hp1
HG01109.hp1
HG01261.hp1
others(9): Show 
HG00642.hp1
HG01109.hp1
HG01261.hp1
HG01975.hp2
HG02083.hp2
HG02698.hp1
HG02738.hp1
HG02965.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
NA18940.hp1
 intron_variant MODIFIER c.190+1133_190+1141d
others(11): Show 
c.190+1133_190+1141dupTTTTTTTTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 INFO_REALIGN_3_PRIME chr19 11101470
chr19:11101470 C
C
 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 43 a0001c0001t0001g0297
a0001c0001t0007g0262
a0001c0002t0001g0210
others(40): Show 
a0001c0001t0001g0297
a0001c0001t0007g0262
a0001c0002t0001g0210
a0001c0002t0006g0114
a0001c0003t0003g0289
a0001c0003t0013g0139
a0001c0004t0001g0095
a0001c0004t0003g0063
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0005g0042
a0001c0004t0009g0003
a0001c0004t0009g0045
a0001c0004t0039g0094
a0001c0004t0046g0046
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0007t0001g0165
a0001c0010t0005g0025
a0001c0010t0011g0026
a0001c0012t0001g0209
a0001c0015t0002g0055
a0001c0018t0024g0047
a0002c0005t0002g0009
a0002c0005t0002g0028
a0002c0005t0002g0034
a0002c0005t0002g0039
a0002c0005t0002g0057
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
 44 HG00408.hp2
HG00544.hp2
HG01081.hp2
others(41): Show 
HG00408.hp2
HG00544.hp2
HG01081.hp2
HG01496.hp2
HG01934.hp1
HG01952.hp1
HG02015.hp1
HG02451.hp2
HG02523.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02818.hp1
HG02886.hp2
HG03017.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03579.hp1
HG03654.hp2
HG03688.hp2
HG03831.hp1
HG04204.hp2
NA18939.hp1
NA18941.hp2
NA18950.hp2
NA18962.hp1
NA18969.hp1
NA18985.hp2
NA18986.hp2
NA18990.hp1
NA19001.hp1
NA19004.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19068.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.190+1132_190+1141d
others(12): Show 
c.190+1132_190+1141dupTTTTTTTTTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 INFO_REALIGN_3_PRIME chr19 11101470
chr19:11101470 C
C
 CTTTTTTT
others(4): Show 
CTTTTTTTTTTT
 191 a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
others(188): Show 
a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
a0001c0001t0005g0162
a0001c0001t0005g0172
a0001c0001t0005g0179
a0001c0001t0005g0184
a0001c0001t0005g0240
a0001c0001t0005g0249
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0078
a0001c0001t0007g0079
a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0157
a0001c0001t0007g0171
a0001c0001t0007g0176
a0001c0001t0007g0250
a0001c0001t0007g0251
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0007g0306
a0001c0001t0007g0307
a0001c0001t0007g0310
a0001c0001t0010g0072
a0001c0001t0010g0217
a0001c0001t0010g0239
a0001c0001t0010g0244
a0001c0001t0010g0245
a0001c0001t0010g0248
a0001c0001t0010g0259
a0001c0001t0010g0265
a0001c0001t0011g0073
a0001c0001t0011g0242
a0001c0001t0011g0246
a0001c0001t0012g0158
a0001c0001t0013g0050
a0001c0001t0013g0054
a0001c0001t0015g0298
a0001c0001t0016g0104
a0001c0001t0016g0108
a0001c0001t0016g0109
a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0001t0022g0243
a0001c0001t0023g0051
a0001c0001t0027g0103
a0001c0001t0028g0107
a0001c0001t0030g0159
a0001c0001t0031g0333
a0001c0001t0032g0216
a0001c0001t0033g0182
a0001c0001t0034g0185
a0001c0001t0037g0166
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0206
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0006g0276
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0043g0076
a0001c0002t0045g0221
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0003g0068
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0288
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0294
a0001c0003t0026g0237
a0001c0003t0055g0320
a0001c0003t0058g0293
a0001c0004t0004g0048
a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0099
a0001c0004t0004g0196
a0001c0004t0004g0281
a0001c0004t0005g0238
a0001c0004t0006g0145
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0036g0033
a0001c0004t0038g0036
a0001c0006t0005g0052
a0001c0006t0006g0061
a0001c0006t0006g0266
a0001c0007t0001g0180
a0001c0007t0001g0181
a0001c0007t0001g0224
a0001c0007t0002g0169
a0001c0007t0002g0170
a0001c0007t0002g0173
a0001c0007t0002g0199
a0001c0007t0002g0241
a0001c0007t0002g0271
a0001c0007t0002g0301
a0001c0007t0002g0312
a0001c0007t0020g0318
a0001c0007t0020g0321
a0001c0007t0052g0177
a0001c0008t0008g0002
a0001c0008t0008g0019
a0001c0008t0008g0029
a0001c0008t0008g0065
a0001c0008t0008g0167
a0001c0008t0008g0174
a0001c0008t0008g0175
a0001c0008t0008g0178
a0001c0008t0008g0183
a0001c0008t0008g0214
a0001c0008t0008g0215
a0001c0008t0008g0296
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0015t0002g0049
a0001c0016t0001g0081
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0020t0056g0264
a0001c0021t0008g0287
a0001c0022t0005g0084
a0001c0023t0003g0291
a0002c0005t0002g0012
a0002c0005t0002g0155
a0002c0005t0002g0197
a0002c0005t0002g0198
a0002c0005t0002g0263
a0002c0005t0002g0286
a0002c0005t0002g0317
a0002c0005t0002g0340
a0002c0005t0002g0341
a0002c0005t0002g0342
a0002c0005t0002g0343
a0002c0005t0002g0344
a0002c0005t0002g0345
 199 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(196): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp1
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01261.hp2
HG01358.hp1
HG01496.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02897.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18945.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18957.hp1
NA18957.hp2
NA18961.hp2
NA18962.hp2
NA18964.hp1
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18971.hp2
NA18973.hp2
NA18980.hp1
NA18980.hp2
NA18983.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19000.hp1
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp2
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.190+1131_190+1141d
others(13): Show 
c.190+1131_190+1141dupTTTTTTTTTTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 INFO_REALIGN_3_PRIME chr19 11101470
chr19:11101470 C
C
 CTTTTTTT
others(5): Show 
CTTTTTTTTTTTT
 45 a0001c0001t0005g0192
a0001c0001t0005g0258
a0001c0001t0007g0308
others(42): Show 
a0001c0001t0005g0192
a0001c0001t0005g0258
a0001c0001t0007g0308
a0001c0001t0011g0156
a0001c0001t0011g0254
a0001c0001t0012g0071
a0001c0001t0012g0161
a0001c0001t0013g0053
a0001c0001t0013g0319
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0316
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0044g0256
a0001c0003t0001g0269
a0001c0003t0003g0115
a0001c0003t0003g0164
a0001c0003t0003g0334
a0001c0003t0005g0137
a0001c0003t0005g0148
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0018g0187
a0001c0007t0002g0188
a0001c0007t0002g0189
a0001c0007t0002g0191
a0001c0007t0041g0193
a0001c0008t0008g0013
a0001c0008t0008g0194
a0001c0008t0047g0190
a0001c0016t0001g0082
a0002c0005t0002g0074
a0002c0005t0002g0347
a0006c0024t0019g0346
 45 HG00423.hp1
HG00438.hp2
HG00738.hp2
others(42): Show 
HG00423.hp1
HG00438.hp2
HG00738.hp2
HG01257.hp2
HG01358.hp2
HG01952.hp2
HG02056.hp2
HG02257.hp1
HG02486.hp1
HG02602.hp2
HG02647.hp1
HG02738.hp2
HG02896.hp2
HG02970.hp2
HG03209.hp1
HG03239.hp1
HG03490.hp2
HG03516.hp1
HG03579.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18906.hp2
NA18943.hp1
NA18950.hp1
NA18961.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18979.hp2
NA18993.hp1
NA18995.hp1
NA18995.hp2
NA19000.hp2
NA19001.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp2
NA19068.hp2
NA19083.hp2
NA20300.hp2
 intron_variant MODIFIER c.190+1130_190+1141d
others(14): Show 
c.190+1130_190+1141dupTTTTTTTTTTTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 INFO_REALIGN_3_PRIME chr19 11101470
chr19:11101472 T
T
 TTTTTTTT
others(4): Show 
TTTTTTTTTTTC
 1 a0001c0007t0020g0035
a0001c0007t0020g0035
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.190+1137_190+1138i
others(13): Show 
c.190+1137_190+1138insCTTTTTTTTTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 INFO_REALIGN_3_PRIME chr19 11101472
chr19:11101503 C
C
 G
G
 37 a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0269
others(34): Show 
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0269
a0001c0003t0003g0143
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0055g0320
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0011
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0036g0033
a0001c0006t0006g0266
a0002c0005t0002g0009
a0002c0005t0002g0012
a0002c0005t0002g0057
a0002c0005t0002g0155
a0002c0005t0002g0317
a0002c0005t0002g0340
a0002c0005t0002g0341
a0002c0005t0002g0342
a0002c0005t0002g0343
a0002c0005t0002g0344
a0002c0005t0002g0345
a0002c0005t0002g0347
a0006c0024t0019g0346
 40 HG00738.hp2
HG01069.hp1
HG01071.hp2
others(37): Show 
HG00738.hp2
HG01069.hp1
HG01071.hp2
HG01109.hp2
HG01255.hp2
HG01358.hp1
HG01516.hp2
HG01517.hp1
HG01952.hp1
HG01981.hp1
HG02055.hp2
HG02056.hp2
HG02155.hp2
HG02559.hp1
HG02615.hp1
HG02622.hp1
HG02886.hp1
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03579.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18943.hp1
NA18968.hp2
NA18971.hp2
NA18986.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp2
NA19005.hp2
NA19056.hp2
NA19064.hp2
NA19083.hp2
NA19085.hp1
 intron_variant MODIFIER c.190+1158C>G
c.190+1158C>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11101503
chr19:11101711 G
G
 A
A
 2 a0001c0007t0020g0318
a0001c0007t0020g0321
a0001c0007t0020g0318
a0001c0007t0020g0321
 2 HG01884.hp1
HG02970.hp1
HG01884.hp1
HG02970.hp1
 intron_variant MODIFIER c.191-953G>A
c.191-953G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11101711
chr19:11101794 T
T
 A
A
 160 a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0134
others(157): Show 
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0134
a0001c0001t0007g0273
a0001c0001t0012g0071
a0001c0001t0012g0136
a0001c0001t0013g0319
a0001c0001t0029g0132
a0001c0001t0035g0020
a0001c0002t0001g0018
a0001c0002t0001g0130
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0001g0095
a0001c0004t0003g0014
a0001c0004t0003g0063
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0005g0042
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0036g0033
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0004t0046g0046
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0077
a0001c0006t0006g0098
a0001c0006t0006g0266
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0007t0020g0035
a0001c0007t0020g0318
a0001c0007t0020g0321
a0001c0008t0008g0065
a0001c0008t0008g0296
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0013t0009g0339
a0001c0015t0002g0055
a0001c0018t0024g0047
a0001c0018t0024g0322
a0001c0021t0008g0287
a0001c0023t0003g0291
a0001c0026t0008g0348
a0001c0027t0003g0275
a0002c0005t0002g0009
a0002c0005t0002g0012
a0002c0005t0002g0039
a0002c0005t0002g0057
a0002c0005t0002g0155
a0002c0005t0002g0317
a0002c0005t0002g0340
a0002c0005t0002g0341
a0002c0005t0002g0342
a0002c0005t0002g0343
a0002c0005t0002g0344
a0002c0005t0002g0345
a0002c0005t0002g0347
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
a0002c0025t0002g0056
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
a0004c0014t0004g0112
a0004c0014t0004g0113
a0005c0019t0007g0133
a0006c0024t0019g0346
 164 HG00408.hp2
HG00423.hp2
HG00544.hp1
others(161): Show 
HG00408.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00642.hp1
HG00738.hp2
HG01069.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp2
HG01255.hp2
HG01261.hp1
HG01358.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03834.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp2
NA18964.hp2
NA18967.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18979.hp1
NA18983.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18993.hp1
NA18998.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19043.hp1
NA19056.hp2
NA19058.hp1
NA19064.hp2
NA19065.hp2
NA19067.hp1
NA19068.hp1
NA19074.hp1
NA19079.hp2
NA19080.hp2
NA19083.hp2
NA19085.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.191-870T>A
c.191-870T>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11101794
chr19:11101795 A
A
 T
T
 1 a0001c0008t0008g0194
a0001c0008t0008g0194
 1 HG01257.hp2
HG01257.hp2
 intron_variant MODIFIER c.191-869A>T
c.191-869A>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11101795
chr19:11101801 G
G
 GATCTCTC
others(118): Show 
GATCTCTCTCTTTTCCTCCTCCTCCGTTGTTGTTGTTGAGAGAGATCTCT
CTCTTTTCCTCCTCCTCCGTTGTTGTTGTTGAGAGAGATCTCTCTCTTTT
CCTCCTCTCCGTTGTTGTTGTTGAGA
 1 a0001c0001t0007g0273
a0001c0001t0007g0273
 1 NA18998.hp2
NA18998.hp2
 intron_variant MODIFIER c.191-863_191-862ins
others(125): Show 
c.191-863_191-862insATCTCTCTCTTTTCCTCCTCCTCCGTTGTT
GTTGTTGAGAGAGATCTCTCTCTTTTCCTCCTCCTCCGTTGTTGTTGTTG
AGAGAGATCTCTCTCTTTTCCTCCTCTCCGTTGTTGTTGTTGAGA
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11101801
chr19:11101806 C
C
 T
T
 1 a0001c0001t0007g0273
a0001c0001t0007g0273
 1 NA18998.hp2
NA18998.hp2
 intron_variant MODIFIER c.191-858C>T
c.191-858C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11101806
chr19:11101808 A
A
 T
T
 1 a0001c0001t0007g0273
a0001c0001t0007g0273
 1 NA18998.hp2
NA18998.hp2
 intron_variant MODIFIER c.191-856A>T
c.191-856A>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11101808
chr19:11101809 G
G
 C
C
 1 a0001c0001t0007g0273
a0001c0001t0007g0273
 1 NA18998.hp2
NA18998.hp2
 intron_variant MODIFIER c.191-855G>C
c.191-855G>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11101809
chr19:11101810 G
G
 T
T
 1 a0001c0001t0007g0273
a0001c0001t0007g0273
 1 NA18998.hp2
NA18998.hp2
 intron_variant MODIFIER c.191-854G>T
c.191-854G>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11101810
chr19:11101812 A
A
 T
T
 1 a0001c0001t0007g0273
a0001c0001t0007g0273
 1 NA18998.hp2
NA18998.hp2
 intron_variant MODIFIER c.191-852A>T
c.191-852A>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11101812
chr19:11101813 T
T
 C
C
 1 a0001c0001t0007g0273
a0001c0001t0007g0273
 1 NA18998.hp2
NA18998.hp2
 intron_variant MODIFIER c.191-851T>C
c.191-851T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11101813
chr19:11101814 G
G
 T
T
 1 a0001c0001t0007g0273
a0001c0001t0007g0273
 1 NA18998.hp2
NA18998.hp2
 intron_variant MODIFIER c.191-850G>T
c.191-850G>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11101814
chr19:11101815 G
G
 T
T
 1 a0001c0001t0007g0273
a0001c0001t0007g0273
 1 NA18998.hp2
NA18998.hp2
 intron_variant MODIFIER c.191-849G>T
c.191-849G>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11101815
chr19:11101817 G
G
 C
C
 2 a0001c0001t0013g0319
a0001c0003t0055g0320
a0001c0001t0013g0319
a0001c0003t0055g0320
 2 HG03209.hp1
HG03225.hp2
HG03209.hp1
HG03225.hp2
 intron_variant MODIFIER c.191-847G>C
c.191-847G>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11101817
chr19:11101817 G
G
 T
T
 1 a0001c0001t0007g0273
a0001c0001t0007g0273
 1 NA18998.hp2
NA18998.hp2
 intron_variant MODIFIER c.191-847G>T
c.191-847G>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11101817
chr19:11101818 G
G
 A
A
 1 a0001c0004t0018g0120
a0001c0004t0018g0120
 1 NA18957.hp1
NA18957.hp1
 intron_variant MODIFIER c.191-846G>A
c.191-846G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11101818
chr19:11101818 G
G
 C
C
 1 a0001c0001t0007g0273
a0001c0001t0007g0273
 1 NA18998.hp2
NA18998.hp2
 intron_variant MODIFIER c.191-846G>C
c.191-846G>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11101818
chr19:11101822 A
A
 C
C
 1 a0001c0001t0007g0273
a0001c0001t0007g0273
 1 NA18998.hp2
NA18998.hp2
 intron_variant MODIFIER c.191-842A>C
c.191-842A>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11101822
chr19:11101824 G
G
 C
C
 1 a0001c0001t0007g0273
a0001c0001t0007g0273
 1 NA18998.hp2
NA18998.hp2
 intron_variant MODIFIER c.191-840G>C
c.191-840G>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11101824
chr19:11101827 TAGAATCC
others(118): Show 
TAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCA
TGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAA
AAAAAAAAGTGGGATTAGGTCAGGCA
 T
T
 1 a0001c0001t0007g0273
a0001c0001t0007g0273
 1 NA18998.hp2
NA18998.hp2
 intron_variant MODIFIER c.191-836_191-712del
c.191-836_191-712del
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11101827
chr19:11101954 G
G
 C
C
 1 a0001c0001t0007g0273
a0001c0001t0007g0273
 1 NA18998.hp2
NA18998.hp2
 intron_variant MODIFIER c.191-710G>C
c.191-710G>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11101954
chr19:11101957 G
G
 T
T
 1 a0001c0001t0007g0273
a0001c0001t0007g0273
 1 NA18998.hp2
NA18998.hp2
 intron_variant MODIFIER c.191-707G>T
c.191-707G>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11101957
chr19:11102036 T
T
 C
C
 10 a0001c0002t0006g0043
a0001c0004t0005g0042
a0001c0004t0009g0045
others(7): Show 
a0001c0002t0006g0043
a0001c0004t0005g0042
a0001c0004t0009g0045
a0001c0004t0046g0046
a0001c0015t0002g0055
a0001c0018t0024g0047
a0002c0005t0002g0039
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
 10 HG01934.hp1
HG02615.hp2
HG02717.hp1
others(7): Show 
HG01934.hp1
HG02615.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02965.hp1
HG03471.hp2
HG03579.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.191-628T>C
c.191-628T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11102036
chr19:11102087 C
C
 T
T
 68 a0001c0002t0006g0043
a0001c0003t0001g0001
a0001c0003t0001g0153
others(65): Show 
a0001c0002t0006g0043
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0269
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0058g0293
a0001c0004t0005g0042
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0036g0033
a0001c0004t0038g0036
a0001c0004t0046g0046
a0001c0006t0006g0266
a0001c0007t0020g0035
a0001c0008t0008g0065
a0001c0008t0008g0296
a0001c0015t0002g0055
a0001c0018t0024g0047
a0001c0021t0008g0287
a0001c0023t0003g0291
a0002c0005t0002g0009
a0002c0005t0002g0012
a0002c0005t0002g0039
a0002c0005t0002g0057
a0002c0005t0002g0155
a0002c0005t0002g0317
a0002c0005t0002g0340
a0002c0005t0002g0341
a0002c0005t0002g0342
a0002c0005t0002g0343
a0002c0005t0002g0344
a0002c0005t0002g0345
a0002c0005t0002g0347
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
a0004c0014t0004g0112
a0004c0014t0004g0113
a0006c0024t0019g0346
 71 HG00621.hp1
HG00738.hp2
HG01069.hp1
others(68): Show 
HG00621.hp1
HG00738.hp2
HG01069.hp1
HG01071.hp2
HG01109.hp2
HG01167.hp1
HG01255.hp2
HG01358.hp1
HG01516.hp2
HG01517.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01981.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02155.hp2
HG02165.hp1
HG02559.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02886.hp1
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18939.hp2
NA18943.hp1
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18967.hp1
NA18968.hp2
NA18971.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp2
NA18993.hp1
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp2
NA19010.hp1
NA19043.hp1
NA19056.hp2
NA19064.hp2
NA19080.hp2
NA19083.hp2
NA19085.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.191-577C>T
c.191-577C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11102087
chr19:11102223 T
T
 C
C
 3 a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
 3 NA18968.hp1
NA18995.hp2
NA19091.hp1
NA18968.hp1
NA18995.hp2
NA19091.hp1
 intron_variant MODIFIER c.191-441T>C
c.191-441T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11102223
chr19:11102226 CA
CA
 C
C
 15 a0001c0001t0007g0079
a0001c0001t0007g0106
a0001c0001t0007g0134
others(12): Show 
a0001c0001t0007g0079
a0001c0001t0007g0106
a0001c0001t0007g0134
a0001c0001t0007g0262
a0001c0001t0034g0185
a0001c0002t0001g0252
a0001c0002t0001g0300
a0001c0004t0004g0110
a0001c0004t0009g0003
a0001c0004t0009g0011
a0001c0008t0008g0296
a0002c0005t0002g0009
a0002c0005t0002g0012
a0002c0005t0002g0341
a0003c0011t0006g0336
 16 HG01167.hp1
HG01517.hp1
HG01952.hp1
others(13): Show 
HG01167.hp1
HG01517.hp1
HG01952.hp1
HG02559.hp1
HG02615.hp1
HG02818.hp2
HG03017.hp1
HG03195.hp1
HG03453.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp2
NA18951.hp2
NA18962.hp2
NA18969.hp2
NA19058.hp1
 intron_variant MODIFIER c.191-422delA
c.191-422delA
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 INFO_REALIGN_3_PRIME chr19 11102226
chr19:11102265 A
A
 C
C
 30 a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
others(27): Show 
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0154
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0005g0294
a0001c0003t0058g0293
a0001c0004t0003g0014
a0001c0004t0004g0067
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0038g0036
a0001c0007t0020g0035
a0001c0008t0008g0065
a0001c0008t0008g0296
a0001c0021t0008g0287
a0001c0023t0003g0291
a0002c0005t0002g0286
a0004c0014t0004g0112
a0004c0014t0004g0113
 30 HG00621.hp1
HG01167.hp1
HG01891.hp1
others(27): Show 
HG00621.hp1
HG01167.hp1
HG01891.hp1
HG01891.hp2
HG02056.hp1
HG02145.hp1
HG02145.hp2
HG02165.hp1
HG02257.hp1
HG02486.hp1
HG02602.hp1
HG02647.hp2
HG02896.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03139.hp2
HG03688.hp2
NA18939.hp2
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18967.hp1
NA18986.hp1
NA18989.hp2
NA19002.hp2
NA19007.hp2
NA19010.hp1
NA19043.hp1
NA19080.hp2
 intron_variant MODIFIER c.191-399A>C
c.191-399A>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11102265
chr19:11102363 G
G
 A
A
 1 a0001c0006t0006g0061
a0001c0006t0006g0061
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.191-301G>A
c.191-301G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11102363
chr19:11102464 G
G
 A
A
 1 a0001c0002t0001g0213
a0001c0002t0001g0213
 1 HG01256.hp1
HG01256.hp1
 intron_variant MODIFIER c.191-200G>A
c.191-200G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11102464
chr19:11102466 C
C
 T
T
 2 a0002c0005t0002g0028
a0002c0005t0002g0034
a0002c0005t0002g0028
a0002c0005t0002g0034
 2 HG02451.hp2
HG02886.hp2
HG02451.hp2
HG02886.hp2
 intron_variant MODIFIER c.191-198C>T
c.191-198C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11102466
chr19:11102480 A
A
 G
G
 1 a0001c0003t0003g0131
a0001c0003t0003g0131
 1 NA19007.hp1
NA19007.hp1
 intron_variant MODIFIER c.191-184A>G
c.191-184A>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11102480
chr19:11102551 G
G
 A
A
 1 a0002c0005t0002g0039
a0002c0005t0002g0039
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.191-113G>A
c.191-113G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 2/17 chr19 11102551
chr19:11102992 G
G
 A
A
 1 a0001c0003t0053g0123
a0001c0003t0053g0123
 1 NA19074.hp1
NA19074.hp1
 intron_variant MODIFIER c.313+206G>A
c.313+206G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 3/17 chr19 11102992
chr19:11102993 G
G
 A
A
 1 a0001c0001t0037g0166
a0001c0001t0037g0166
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.313+207G>A
c.313+207G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 3/17 chr19 11102993
chr19:11103013 G
G
 A
A
 19 a0001c0001t0007g0134
a0001c0001t0007g0273
a0001c0001t0012g0136
others(16): Show 
a0001c0001t0007g0134
a0001c0001t0007g0273
a0001c0001t0012g0136
a0001c0001t0029g0132
a0001c0003t0001g0202
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0026g0064
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0057g0127
a0001c0003t0059g0129
a0005c0019t0007g0133
 19 HG00423.hp2
HG00544.hp1
HG00558.hp1
others(16): Show 
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG02074.hp2
NA18940.hp2
NA18941.hp1
NA18942.hp2
NA18945.hp2
NA18948.hp1
NA18964.hp2
NA18969.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18979.hp1
NA18998.hp2
NA19007.hp1
NA19074.hp1
 intron_variant MODIFIER c.313+227G>A
c.313+227G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 3/17 chr19 11103013
chr19:11103048 C
C
 T
T
 1 a0001c0002t0001g0260
a0001c0002t0001g0260
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.313+262C>T
c.313+262C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 3/17 chr19 11103048
chr19:11103504 C
C
 T
T
 1 a0001c0008t0008g0194
a0001c0008t0008g0194
 1 HG01257.hp2
HG01257.hp2
 intron_variant MODIFIER c.313+718C>T
c.313+718C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 3/17 chr19 11103504
chr19:11103711 C
C
 T
T
 2 a0001c0001t0007g0250
a0001c0001t0007g0251
a0001c0001t0007g0250
a0001c0001t0007g0251
 2 NA18942.hp1
NA19079.hp1
NA18942.hp1
NA19079.hp1
 intron_variant MODIFIER c.313+925C>T
c.313+925C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 3/17 chr19 11103711
chr19:11103712 G
G
 A
A
 1 a0001c0002t0006g0114
a0001c0002t0006g0114
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.313+926G>A
c.313+926G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 3/17 chr19 11103712
chr19:11103799 T
T
 G
G
 21 a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
others(18): Show 
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0269
a0001c0003t0003g0143
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0004t0009g0003
a0001c0004t0009g0011
a0001c0004t0036g0033
a0002c0005t0002g0009
a0002c0005t0002g0012
 24 HG01952.hp1
HG01981.hp1
HG02055.hp1
others(21): Show 
HG01952.hp1
HG01981.hp1
HG02055.hp1
HG02056.hp2
HG02155.hp2
HG02559.hp1
HG02615.hp1
HG02965.hp1
HG03195.hp1
HG03453.hp2
NA18522.hp1
NA18943.hp1
NA18968.hp2
NA18971.hp2
NA18986.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp2
NA19005.hp2
NA19056.hp2
NA19064.hp2
NA19083.hp2
NA19085.hp1
NA20129.hp2
 intron_variant MODIFIER c.313+1013T>G
c.313+1013T>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 3/17 chr19 11103799
chr19:11103857 T
T
 G
G
 161 a0001c0001t0013g0319
a0001c0001t0035g0020
a0001c0001t0037g0166
others(158): Show 
a0001c0001t0013g0319
a0001c0001t0035g0020
a0001c0001t0037g0166
a0001c0002t0001g0018
a0001c0002t0001g0130
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0001g0095
a0001c0004t0003g0014
a0001c0004t0003g0063
a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0005g0042
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0036g0033
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0004t0046g0046
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0077
a0001c0006t0006g0098
a0001c0006t0006g0266
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0007t0020g0035
a0001c0007t0020g0318
a0001c0007t0020g0321
a0001c0008t0008g0065
a0001c0008t0008g0296
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0013t0009g0339
a0001c0015t0002g0055
a0001c0018t0024g0047
a0001c0018t0024g0322
a0001c0021t0008g0287
a0001c0023t0003g0291
a0001c0026t0008g0348
a0001c0027t0003g0275
a0002c0005t0002g0009
a0002c0005t0002g0012
a0002c0005t0002g0039
a0002c0005t0002g0057
a0002c0005t0002g0155
a0002c0005t0002g0286
a0002c0005t0002g0317
a0002c0005t0002g0340
a0002c0005t0002g0341
a0002c0005t0002g0342
a0002c0005t0002g0343
a0002c0005t0002g0344
a0002c0005t0002g0345
a0002c0005t0002g0347
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
a0002c0025t0002g0056
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
a0004c0014t0004g0112
a0004c0014t0004g0113
a0006c0024t0019g0346
 165 HG00408.hp2
HG00423.hp2
HG00544.hp1
others(162): Show 
HG00408.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00642.hp1
HG00738.hp2
HG01069.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp2
HG01255.hp2
HG01261.hp1
HG01358.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03834.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp2
NA18964.hp2
NA18967.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18975.hp2
NA18979.hp1
NA18983.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18993.hp1
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19043.hp1
NA19056.hp2
NA19058.hp1
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19074.hp1
NA19079.hp2
NA19080.hp2
NA19083.hp2
NA19085.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.313+1071T>G
c.313+1071T>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 3/17 chr19 11103857
chr19:11103880 G
G
 A
A
 1 a0001c0010t0005g0025
a0001c0010t0005g0025
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.313+1094G>A
c.313+1094G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 3/17 chr19 11103880
chr19:11103951 C
C
 T
T
 1 a0002c0005t0002g0034
a0002c0005t0002g0034
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.313+1165C>T
c.313+1165C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 3/17 chr19 11103951
chr19:11104275 CA
CA
 C
C
 248 a0001c0001t0001g0297
a0001c0001t0005g0007
a0001c0001t0005g0060
others(245): Show 
a0001c0001t0001g0297
a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
a0001c0001t0005g0162
a0001c0001t0005g0172
a0001c0001t0005g0179
a0001c0001t0005g0184
a0001c0001t0005g0192
a0001c0001t0005g0240
a0001c0001t0005g0249
a0001c0001t0005g0258
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0078
a0001c0001t0007g0079
a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0134
a0001c0001t0007g0157
a0001c0001t0007g0171
a0001c0001t0007g0176
a0001c0001t0007g0250
a0001c0001t0007g0251
a0001c0001t0007g0262
a0001c0001t0007g0273
a0001c0001t0007g0303
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0007g0306
a0001c0001t0007g0307
a0001c0001t0007g0308
a0001c0001t0007g0310
a0001c0001t0010g0072
a0001c0001t0010g0239
a0001c0001t0010g0244
a0001c0001t0010g0245
a0001c0001t0010g0248
a0001c0001t0010g0259
a0001c0001t0010g0265
a0001c0001t0011g0073
a0001c0001t0011g0242
a0001c0001t0011g0246
a0001c0001t0012g0071
a0001c0001t0012g0136
a0001c0001t0012g0158
a0001c0001t0012g0161
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0013g0319
a0001c0001t0015g0298
a0001c0001t0016g0104
a0001c0001t0016g0108
a0001c0001t0016g0109
a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0001t0022g0243
a0001c0001t0023g0051
a0001c0001t0027g0103
a0001c0001t0028g0107
a0001c0001t0030g0159
a0001c0001t0031g0333
a0001c0001t0033g0182
a0001c0001t0035g0020
a0001c0001t0037g0166
a0001c0002t0001g0018
a0001c0002t0001g0130
a0001c0002t0001g0247
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0001g0095
a0001c0004t0003g0014
a0001c0004t0003g0063
a0001c0004t0004g0048
a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0004g0285
a0001c0004t0005g0042
a0001c0004t0009g0003
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0004t0046g0046
a0001c0006t0005g0052
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0077
a0001c0006t0006g0098
a0001c0006t0006g0266
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0007t0001g0165
a0001c0007t0001g0180
a0001c0007t0001g0181
a0001c0007t0002g0169
a0001c0007t0002g0170
a0001c0007t0002g0173
a0001c0007t0002g0188
a0001c0007t0002g0189
a0001c0007t0002g0191
a0001c0007t0002g0199
a0001c0007t0002g0241
a0001c0007t0002g0271
a0001c0007t0002g0301
a0001c0007t0002g0312
a0001c0007t0020g0035
a0001c0007t0041g0193
a0001c0007t0052g0177
a0001c0008t0008g0002
a0001c0008t0008g0013
a0001c0008t0008g0019
a0001c0008t0008g0029
a0001c0008t0008g0065
a0001c0008t0008g0174
a0001c0008t0008g0175
a0001c0008t0008g0178
a0001c0008t0008g0183
a0001c0008t0008g0296
a0001c0008t0047g0190
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0013t0009g0339
a0001c0015t0002g0049
a0001c0015t0002g0055
a0001c0018t0024g0047
a0001c0018t0024g0322
a0001c0021t0008g0287
a0001c0023t0003g0291
a0001c0027t0003g0275
a0002c0005t0002g0009
a0002c0005t0002g0012
a0002c0005t0002g0028
a0002c0005t0002g0034
a0002c0005t0002g0039
a0002c0005t0002g0057
a0002c0005t0002g0074
a0002c0005t0002g0155
a0002c0005t0002g0197
a0002c0005t0002g0198
a0002c0005t0002g0263
a0002c0005t0002g0286
a0002c0005t0002g0317
a0002c0005t0002g0340
a0002c0005t0002g0341
a0002c0005t0002g0342
a0002c0005t0002g0343
a0002c0005t0002g0344
a0002c0005t0002g0345
a0002c0005t0002g0347
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
a0002c0025t0002g0056
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
a0004c0014t0004g0112
a0004c0014t0004g0113
a0005c0019t0007g0133
a0006c0024t0019g0346
 255 HG00099.hp1
HG00323.hp1
HG00323.hp2
others(252): Show 
HG00099.hp1
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG00738.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01496.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01952.hp1
HG01975.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp2
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp2
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18967.hp2
NA18968.hp2
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19058.hp1
NA19058.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.314-928delA
c.314-928delA
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 3/17 INFO_REALIGN_3_PRIME chr19 11104275
chr19:11104305 CT
CT
 C
C
 4 a0001c0006t0006g0061
a0001c0008t0008g0013
a0002c0005t0002g0028
others(1): Show 
a0001c0006t0006g0061
a0001c0008t0008g0013
a0002c0005t0002g0028
a0002c0005t0002g0034
 4 HG02451.hp2
HG02886.hp2
HG02976.hp2
others(1): Show 
HG02451.hp2
HG02886.hp2
HG02976.hp2
NA18906.hp2
 intron_variant MODIFIER c.314-912delT
c.314-912delT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 3/17 INFO_REALIGN_3_PRIME chr19 11104305
chr19:11104423 T
T
 A
A
 3 a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0013t0009g0339
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0013t0009g0339
 3 HG02922.hp1
HG03453.hp1
HG03540.hp1
HG02922.hp1
HG03453.hp1
HG03540.hp1
 intron_variant MODIFIER c.314-797T>A
c.314-797T>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 3/17 chr19 11104423
chr19:11104550 G
G
 A
A
 22 a0001c0004t0001g0095
a0001c0004t0003g0063
a0001c0004t0004g0080
others(19): Show 
a0001c0004t0001g0095
a0001c0004t0003g0063
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0039g0094
a0001c0017t0001g0015
a0001c0017t0001g0274
a0002c0005t0002g0039
 22 HG00408.hp2
HG00544.hp2
HG02015.hp1
others(19): Show 
HG00408.hp2
HG00544.hp2
HG02015.hp1
HG02523.hp2
HG02735.hp1
HG03471.hp2
HG03490.hp1
HG03654.hp2
NA18939.hp1
NA18941.hp2
NA18950.hp2
NA18952.hp2
NA18969.hp1
NA18985.hp2
NA18989.hp1
NA18990.hp1
NA19004.hp1
NA19009.hp2
NA19010.hp2
NA19012.hp1
NA19067.hp1
NA19068.hp1
 intron_variant MODIFIER c.314-670G>A
c.314-670G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 3/17 chr19 11104550
chr19:11104581 C
C
 T
T
 1 a0001c0001t0005g0184
a0001c0001t0005g0184
 1 NA19088.hp1
NA19088.hp1
 intron_variant MODIFIER c.314-639C>T
c.314-639C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 3/17 chr19 11104581
chr19:11104719 C
C
 T
T
 4 a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
others(1): Show 
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0002c0005t0002g0009
 4 HG02055.hp1
HG02965.hp1
HG03453.hp2
others(1): Show 
HG02055.hp1
HG02965.hp1
HG03453.hp2
NA20129.hp2
 intron_variant MODIFIER c.314-501C>T
c.314-501C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 3/17 chr19 11104719
chr19:11105149 C
C
 T
T
 1 a0001c0008t0008g0065
a0001c0008t0008g0065
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.314-71C>T
c.314-71C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 3/17 chr19 11105149
chr19:11105170 T
T
 C
C
 44 a0001c0002t0006g0114
a0001c0003t0001g0001
a0001c0003t0001g0153
others(41): Show 
a0001c0002t0006g0114
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0269
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0025g0135
a0001c0004t0005g0042
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0266
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0007t0020g0035
a0001c0018t0024g0047
a0001c0018t0024g0322
a0001c0022t0005g0084
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
a0006c0024t0019g0346
 46 HG01081.hp1
HG01106.hp1
HG01167.hp2
others(43): Show 
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01169.hp2
HG01496.hp2
HG01975.hp1
HG01981.hp1
HG02056.hp2
HG02074.hp1
HG02148.hp1
HG02155.hp2
HG02486.hp1
HG02615.hp2
HG02723.hp1
HG02738.hp1
HG02895.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03195.hp2
HG03225.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG06807.hp1
NA18940.hp1
NA18943.hp1
NA18954.hp2
NA18968.hp2
NA18971.hp2
NA18983.hp1
NA18985.hp1
NA18986.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp2
NA19005.hp2
NA19011.hp2
NA19043.hp1
NA19056.hp2
NA19058.hp1
NA19064.hp2
NA19079.hp2
NA19083.hp2
NA20129.hp2
 intron_variant MODIFIER c.314-50T>C
c.314-50T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 3/17 chr19 11105170
chr19:11105186 G
G
 A
A
 1 a0001c0001t0005g0162
a0001c0001t0005g0162
 1 NA19074.hp2
NA19074.hp2
 intron_variant MODIFIER c.314-34G>A
c.314-34G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 3/17 chr19 11105186
chr19:11105609 G
G
 A
A
 1 a0002c0005t0002g0009
a0002c0005t0002g0009
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.694+9G>A
c.694+9G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 4/17 chr19 11105609
chr19:11105625 C
C
 T
T
 2 a0001c0001t0005g0007
a0001c0001t0005g0249
a0001c0001t0005g0007
a0001c0001t0005g0249
 3 HG01074.hp1
HG01168.hp2
HG01169.hp1
HG01074.hp1
HG01168.hp2
HG01169.hp1
 intron_variant MODIFIER c.694+25C>T
c.694+25C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 4/17 chr19 11105625
chr19:11105654 C
C
 T
T
 1 a0001c0001t0010g0248
a0001c0001t0010g0248
 1 HG02015.hp2
HG02015.hp2
 intron_variant MODIFIER c.694+54C>T
c.694+54C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 4/17 chr19 11105654
chr19:11105689 G
G
 T
T
 2 a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0025g0022
a0001c0003t0025g0135
 2 HG03130.hp2
HG06807.hp1
HG03130.hp2
HG06807.hp1
 intron_variant MODIFIER c.694+89G>T
c.694+89G>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 4/17 chr19 11105689
chr19:11105731 C
C
 T
T
 1 a0001c0002t0001g0086
a0001c0002t0001g0086
 1 HG02300.hp1
HG02300.hp1
 intron_variant MODIFIER c.694+131C>T
c.694+131C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 4/17 chr19 11105731
chr19:11105885 A
A
 C
C
 68 a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
others(65): Show 
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0003t0026g0237
a0001c0004t0005g0238
a0001c0007t0001g0224
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0020t0056g0264
 71 HG00099.hp2
HG00408.hp1
HG00423.hp1
others(68): Show 
HG00099.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02004.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02148.hp2
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18948.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18961.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18992.hp1
NA18995.hp2
NA19001.hp1
NA19001.hp2
NA19009.hp2
NA19056.hp1
NA19065.hp1
NA19066.hp1
NA19070.hp2
NA19085.hp2
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.694+285A>C
c.694+285A>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 4/17 chr19 11105885
chr19:11105892 G
G
 T
T
 1 a0001c0008t0008g0183
a0001c0008t0008g0183
 1 HG01516.hp1
HG01516.hp1
 intron_variant MODIFIER c.694+292G>T
c.694+292G>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 4/17 chr19 11105892
chr19:11105941 G
G
 A
A
 126 a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
others(123): Show 
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0003t0026g0237
a0001c0004t0003g0014
a0001c0004t0004g0048
a0001c0004t0004g0067
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0036g0033
a0001c0004t0038g0036
a0001c0004t0046g0046
a0001c0007t0001g0224
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0013t0009g0339
a0001c0015t0002g0049
a0001c0015t0002g0055
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0018t0024g0047
a0001c0018t0024g0322
a0001c0020t0056g0264
a0002c0005t0002g0009
a0002c0005t0002g0028
a0002c0005t0002g0034
a0002c0005t0002g0039
a0002c0005t0002g0057
a0002c0005t0002g0074
a0002c0005t0002g0155
a0002c0005t0002g0197
a0002c0005t0002g0198
a0002c0005t0002g0263
a0002c0005t0002g0286
a0002c0005t0002g0317
a0002c0005t0002g0340
a0002c0005t0002g0341
a0002c0005t0002g0342
a0002c0005t0002g0343
a0002c0005t0002g0344
a0002c0005t0002g0345
a0002c0005t0002g0347
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
a0002c0025t0002g0056
a0004c0014t0004g0112
a0004c0014t0004g0113
a0006c0024t0019g0346
 130 HG00099.hp2
HG00408.hp1
HG00423.hp1
others(127): Show 
HG00099.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp1
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02055.hp1
HG02055.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18948.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18961.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18992.hp1
NA18995.hp2
NA19001.hp1
NA19001.hp2
NA19009.hp2
NA19056.hp1
NA19065.hp1
NA19066.hp1
NA19070.hp2
NA19085.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.694+341G>A
c.694+341G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 4/17 chr19 11105941
chr19:11106024 A
A
 G
G
 81 a0001c0001t0011g0254
a0001c0003t0001g0001
a0001c0003t0001g0153
others(78): Show 
a0001c0001t0011g0254
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0001g0095
a0001c0004t0003g0063
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0005g0042
a0001c0004t0039g0094
a0001c0006t0005g0052
a0001c0007t0020g0318
a0001c0007t0020g0321
a0001c0021t0008g0287
a0001c0022t0005g0084
a0001c0023t0003g0291
a0001c0027t0003g0275
 83 HG00408.hp2
HG00423.hp2
HG00544.hp1
others(80): Show 
HG00408.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG01884.hp1
HG01981.hp1
HG02015.hp1
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02129.hp2
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02486.hp2
HG02523.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02735.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp2
HG03490.hp1
HG03516.hp1
HG03540.hp2
HG03654.hp2
HG03688.hp2
HG03942.hp1
HG06807.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18964.hp2
NA18967.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18975.hp2
NA18979.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18993.hp1
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19056.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19074.hp1
NA19080.hp2
NA19083.hp2
NA19085.hp1
 intron_variant MODIFIER c.694+424A>G
c.694+424A>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 4/17 chr19 11106024
chr19:11106092 T
T
 C
C
 20 a0001c0004t0001g0095
a0001c0004t0003g0063
a0001c0004t0004g0080
others(17): Show 
a0001c0004t0001g0095
a0001c0004t0003g0063
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0039g0094
 20 HG00408.hp2
HG00544.hp2
HG02015.hp1
others(17): Show 
HG00408.hp2
HG00544.hp2
HG02015.hp1
HG02129.hp2
HG02523.hp2
HG02735.hp1
HG03490.hp1
HG03654.hp2
NA18939.hp1
NA18941.hp2
NA18950.hp2
NA18969.hp1
NA18985.hp2
NA18989.hp1
NA18990.hp1
NA19004.hp1
NA19010.hp2
NA19012.hp1
NA19067.hp1
NA19068.hp1
 intron_variant MODIFIER c.695-473T>C
c.695-473T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 4/17 chr19 11106092
chr19:11106095 T
T
 C
C
 1 a0001c0001t0013g0050
a0001c0001t0013g0050
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.695-470T>C
c.695-470T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 4/17 chr19 11106095
chr19:11106210 A
A
 C
C
 1 a0001c0006t0005g0052
a0001c0006t0005g0052
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.695-355A>C
c.695-355A>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 4/17 chr19 11106210
chr19:11106233 G
G
 GTTTTTTT
others(2773): Show 
GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTAATTAATTTATTTTTTTTTTTATTGATCATTCTTGGGTGTTT
CTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGT
CAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGAC
CCTGCGGCCTTGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTAAGATT
AGGGAGTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTT
AACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACA
CAGCACATGTTTCAGAGAGCACAGGGTTGGGGATAAGGTCACAGATCAAC
AGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGT
CTCCCATGTCTACTTCTATCCACAGAGACCCGGCAACCATCCGATTTCTC
AATTTTTTCCCCACCCTTCCCGCCTTTCTATTCCACAAAACCGCCATTGT
CATCATGGCCCATCCCCAATGAGCCGCTGGGCACACCTCCCAGACGGGGT
CGTGGCCGGGCAGAGGGGCCCCTCACTTCCCAGTAGGGGCGGCCGGGCAG
AAGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGAC
CCCCCCACCACCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCT
CACTTCCCAGTAGGGACGGCCGGGCAGAGGCGCCCCTCACCTCCTGGATA
GGGCGGCTGGCTGGGCGGGGGGCTGTCCCCCCGACCTCCCTCCCGGATGG
GGCGGCTGGCCGGGGAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGG
CAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCCGGCCGGAAGGGGGGCT
GACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCCCCCCC
CCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG
CTCCTCACTTTCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC
GGACGGGGCGACTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCG
GACGGGGCGGCTGGCCAGGTGGGGGGCTGACCCCCCCCACCTCCCTCCCG
GACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGG
ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGA
TGGGGCGGCTGGCCAGGTGGGGGGATGACCCCCCCACCTCCCTCCCGGGC
GGGGCGGCTGGCCGGGCAGAAGGGCTCCTCACTTCCCAGTAGGGGCGGCC
GGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCAGGCGGGGG
GCTGATCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGG
CTGACCCCCCACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCT
GACCCCCCCACCTCCCTCCTGGACGGGGCGTCTGGCCGGGCAGAGGGGCT
CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGG
ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA
CGGGGCGGCTGGCCGACCCCCCCCCGCCTCCCTCCCGGATGGGGCGGCTG
GCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGA
GCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC
CCCACCTCCCTCCCGGACGGGGTGGCTGCTGGGCGGAGACGCTCCTCACT
TCCCAGACGGGGTGGTTGCCGGACGGAGGGGCTCCTCACTTCTCAGACGG
GGCGGTTGCCAGGCAGAGGGTTTCCTCACTTCTCAGACGGAGCGGCCGGG
CAGAGACGCTCCCCACCTCCCAGACAGGGCTGCGGCCCAGCAGAGGCGCT
CCTCACATCCCAGACAGGGCGGCGGGGCAGAGGTGCTCCCCACATCTCAG
ACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGGGATGGCG
GCGGGGAAGAGGCGCTCCTCGCTTCCCAGATGGGATGGCAGCCGGGCAGA
GACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACA
TCCCAGACGATGGGTGGCCAAGCAGAGACGCTCCTCACTTCCCAGACGGG
GTGGCGGCCGGGCAGAGGCTGCAATCTCGGCTCTCCGGGAGGCCAAGGCA
GGCGGCTGGGAGGTGGTTGCAGCGAGCCGAGATCACGCCACTGCACTCCA
GCCTGGGCACCATTGAGCACTGAGTGAACGAGACTCCATCTGCAATCCCG
GCACCTCGGGAGGCCGAGGCTGGCGGATCACTCGCGGCTAGGAGCTGGAG
ACCAGCCCGGCCAACACAGCGAAACCCCGTCTCCACCAAAAAAAAACGAA
AACCAGTCAGGCGTGGCGGTGCGCGCCTGCAATCGCAGGCACTCGGCAGG
CTGAGGCAGGAGAATCAGGCAGGGAGGTTGCAGTGAGCCGAGATGGCAGC
AGTACCGTCCAGCCTTGGCTCGGCATCAGAGGGAGACCGTGGAGGTAGAG
GGAGAGGGAGAGGGAGAGGGAGGGGGAGGGAGAGGGAGAGGGAGAGGGAG
AGGGAGAGGGAGAGGGAGAGGCTTTTTTTGT
 1 a0001c0002t0001g0186
a0001c0002t0001g0186
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.695-325_695-324ins
others(2780): Show 
c.695-325_695-324insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTTTTTTTAATTAATTTATTTTTTTTTTTATTGATCAT
TCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAG
TGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCC
TAGGCAGAGGACCCTGCGGCCTTGGCCTTCCGCAGTGTTTGTGTCCCTGG
GTACTTAAGATTAGGGAGTGGTGATGACTCTTAACGAGCATGCTGCCTTC
AAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAAC
CCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGATAAGG
TCACAGATCAACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAAC
AAAATGAAAAGTCTCCCATGTCTACTTCTATCCACAGAGACCCGGCAACC
ATCCGATTTCTCAATTTTTTCCCCACCCTTCCCGCCTTTCTATTCCACAA
AACCGCCATTGTCATCATGGCCCATCCCCAATGAGCCGCTGGGCACACCT
CCCAGACGGGGTCGTGGCCGGGCAGAGGGGCCCCTCACTTCCCAGTAGGG
GCGGCCGGGCAGAAGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGG
CGGGGGGCTGACCCCCCCACCACCCTCCCGGACGGGGCGGCTGGCCAGGC
AGAGGGGCTCCTCACTTCCCAGTAGGGACGGCCGGGCAGAGGCGCCCCTC
ACCTCCTGGATAGGGCGGCTGGCTGGGCGGGGGGCTGTCCCCCCGACCTC
CCTCCCGGATGGGGCGGCTGGCCGGGGAGAGGGGTCCTCACTTCCCAGTA
GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCCGGCC
GGAAGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCGACCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCAGAGGGGCTCCTCACTTTCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACGGGGCGACTGGCCAGGCGGGGGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGCTGACCCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCT
CCCCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCAGATGGGGCGGCTGGCCAGGTGGGGGGATGACCCCCCCACC
TCCCTCCCGGGCGGGGCGGCTGGCCGGGCAGAAGGGCTCCTCACTTCCCA
GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTG
GCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCAGACGGGGCGGCTGG
CCGGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACTGGGCGGCTGGCC
GGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGTCTGGCCG
GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCC
CTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGACCCCCCCCCGCCTCCCTCCCGG
ATGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG
CCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGG
GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGCTGGGCGGAG
ACGCTCCTCACTTCCCAGACGGGGTGGTTGCCGGACGGAGGGGCTCCTCA
CTTCTCAGACGGGGCGGTTGCCAGGCAGAGGGTTTCCTCACTTCTCAGAC
GGAGCGGCCGGGCAGAGACGCTCCCCACCTCCCAGACAGGGCTGCGGCCC
AGCAGAGGCGCTCCTCACATCCCAGACAGGGCGGCGGGGCAGAGGTGCTC
CCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTA
GATGGGATGGCGGCGGGGAAGAGGCGCTCCTCGCTTCCCAGATGGGATGG
CAGCCGGGCAGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAG
GGGCTCCTCACATCCCAGACGATGGGTGGCCAAGCAGAGACGCTCCTCAC
TTCCCAGACGGGGTGGCGGCCGGGCAGAGGCTGCAATCTCGGCTCTCCGG
GAGGCCAAGGCAGGCGGCTGGGAGGTGGTTGCAGCGAGCCGAGATCACGC
CACTGCACTCCAGCCTGGGCACCATTGAGCACTGAGTGAACGAGACTCCA
TCTGCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCGGATCACTCGCGGC
TAGGAGCTGGAGACCAGCCCGGCCAACACAGCGAAACCCCGTCTCCACCA
AAAAAAAACGAAAACCAGTCAGGCGTGGCGGTGCGCGCCTGCAATCGCAG
GCACTCGGCAGGCTGAGGCAGGAGAATCAGGCAGGGAGGTTGCAGTGAGC
CGAGATGGCAGCAGTACCGTCCAGCCTTGGCTCGGCATCAGAGGGAGACC
GTGGAGGTAGAGGGAGAGGGAGAGGGAGAGGGAGGGGGAGGGAGAGGGAG
AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGCTTTTTTTGTTTTTTTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 4/17 INFO_REALIGN_3_PRIME chr19 11106233
chr19:11106283 C
C
 T
T
 2 a0002c0005t0002g0028
a0002c0005t0002g0034
a0002c0005t0002g0028
a0002c0005t0002g0034
 2 HG02451.hp2
HG02886.hp2
HG02451.hp2
HG02886.hp2
 intron_variant MODIFIER c.695-282C>T
c.695-282C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 4/17 chr19 11106283
chr19:11106322 G
G
 A
A
 3 a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
 3 NA18957.hp1
NA18980.hp1
NA19012.hp2
NA18957.hp1
NA18980.hp1
NA19012.hp2
 intron_variant MODIFIER c.695-243G>A
c.695-243G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 4/17 chr19 11106322
chr19:11106373 C
C
 A
A
 3 a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
 3 NA18957.hp1
NA18980.hp1
NA19012.hp2
NA18957.hp1
NA18980.hp1
NA19012.hp2
 intron_variant MODIFIER c.695-192C>A
c.695-192C>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 4/17 chr19 11106373
chr19:11106906 G
G
 C
C
 1 a0001c0002t0001g0218
a0001c0002t0001g0218
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.817+219G>C
c.817+219G>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 5/17 chr19 11106906
chr19:11106985 C
C
 T
T
 1 a0001c0013t0004g0338
a0001c0013t0004g0338
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.817+298C>T
c.817+298C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 5/17 chr19 11106985
chr19:11107251 A
A
 G
G
 1 a0001c0001t0034g0185
a0001c0001t0034g0185
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.818-141A>G
c.818-141A>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 5/17 chr19 11107251
chr19:11107296 G
G
 A
A
 3 a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
 3 NA18957.hp1
NA18980.hp1
NA19012.hp2
NA18957.hp1
NA18980.hp1
NA19012.hp2
 intron_variant MODIFIER c.818-96G>A
c.818-96G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 5/17 chr19 11107296
chr19:11107523 C
C
 T
T
 3 a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
 3 HG02055.hp1
HG02965.hp1
NA20129.hp2
HG02055.hp1
HG02965.hp1
NA20129.hp2
 intron_variant MODIFIER c.940+9C>T
c.940+9C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 6/17 chr19 11107523
chr19:11107550 G
G
 A
A
 20 a0001c0004t0001g0095
a0001c0004t0003g0063
a0001c0004t0004g0080
others(17): Show 
a0001c0004t0001g0095
a0001c0004t0003g0063
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0039g0094
 20 HG00408.hp2
HG00544.hp2
HG02015.hp1
others(17): Show 
HG00408.hp2
HG00544.hp2
HG02015.hp1
HG02129.hp2
HG02523.hp2
HG02735.hp1
HG03490.hp1
HG03654.hp2
NA18939.hp1
NA18941.hp2
NA18950.hp2
NA18969.hp1
NA18985.hp2
NA18989.hp1
NA18990.hp1
NA19004.hp1
NA19010.hp2
NA19012.hp1
NA19067.hp1
NA19068.hp1
 intron_variant MODIFIER c.940+36G>A
c.940+36G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 6/17 chr19 11107550
chr19:11107657 G
G
 A
A
 3 a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
 3 NA19001.hp1
NA19065.hp1
NA19091.hp2
NA19001.hp1
NA19065.hp1
NA19091.hp2
 intron_variant MODIFIER c.940+143G>A
c.940+143G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 6/17 chr19 11107657
chr19:11107685 G
G
 A
A
 20 a0001c0004t0001g0095
a0001c0004t0003g0063
a0001c0004t0004g0080
others(17): Show 
a0001c0004t0001g0095
a0001c0004t0003g0063
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0039g0094
 20 HG00408.hp2
HG00544.hp2
HG02015.hp1
others(17): Show 
HG00408.hp2
HG00544.hp2
HG02015.hp1
HG02129.hp2
HG02523.hp2
HG02735.hp1
HG03490.hp1
HG03654.hp2
NA18939.hp1
NA18941.hp2
NA18950.hp2
NA18969.hp1
NA18985.hp2
NA18989.hp1
NA18990.hp1
NA19004.hp1
NA19010.hp2
NA19012.hp1
NA19067.hp1
NA19068.hp1
 intron_variant MODIFIER c.940+171G>A
c.940+171G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 6/17 chr19 11107685
chr19:11108037 C
C
 T
T
 68 a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
others(65): Show 
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0003t0026g0237
a0001c0004t0005g0238
a0001c0007t0001g0224
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0020t0056g0264
 71 HG00099.hp2
HG00408.hp1
HG00423.hp1
others(68): Show 
HG00099.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02004.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02148.hp2
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18948.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18961.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18992.hp1
NA18995.hp2
NA19001.hp1
NA19001.hp2
NA19009.hp2
NA19056.hp1
NA19065.hp1
NA19066.hp1
NA19070.hp2
NA19085.hp2
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.940+523C>T
c.940+523C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 6/17 chr19 11108037
chr19:11108182 T
T
 C
C
 59 a0001c0001t0011g0254
a0001c0003t0001g0001
a0001c0003t0001g0153
others(56): Show 
a0001c0001t0011g0254
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0007t0020g0318
a0001c0007t0020g0321
a0001c0021t0008g0287
a0001c0022t0005g0084
a0001c0023t0003g0291
a0001c0027t0003g0275
 61 HG00423.hp2
HG00544.hp1
HG00558.hp1
others(58): Show 
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG01884.hp1
HG01981.hp1
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02486.hp2
HG02602.hp1
HG02602.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp2
HG03516.hp1
HG03540.hp2
HG03688.hp2
HG03942.hp1
HG06807.hp1
NA18939.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18951.hp1
NA18952.hp1
NA18964.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp2
NA18979.hp1
NA18986.hp1
NA18986.hp2
NA18989.hp2
NA18993.hp1
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19056.hp2
NA19064.hp2
NA19074.hp1
NA19080.hp2
NA19083.hp2
NA19085.hp1
 intron_variant MODIFIER c.940+668T>C
c.940+668T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 6/17 chr19 11108182
chr19:11108211 A
A
 G
G
 1 a0001c0004t0004g0281
a0001c0004t0004g0281
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.940+697A>G
c.940+697A>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 6/17 chr19 11108211
chr19:11108211 ACT
ACT
 A
A
 16 a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
others(13): Show 
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0046g0046
a0001c0013t0009g0339
 17 HG01109.hp2
HG01952.hp1
HG02055.hp2
others(14): Show 
HG01109.hp2
HG01952.hp1
HG02055.hp2
HG02280.hp1
HG02486.hp1
HG02615.hp1
HG02717.hp2
HG02886.hp1
HG02895.hp1
HG02897.hp1
HG02970.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03453.hp1
NA19240.hp1
 intron_variant MODIFIER c.940+700_940+701del
others(2): Show 
c.940+700_940+701delCT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 6/17 INFO_REALIGN_3_PRIME chr19 11108211
chr19:11108220 C
C
 CA
CA
 172 a0001c0001t0001g0297
a0001c0001t0005g0007
a0001c0001t0005g0060
others(169): Show 
a0001c0001t0001g0297
a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
a0001c0001t0005g0162
a0001c0001t0005g0179
a0001c0001t0005g0184
a0001c0001t0005g0192
a0001c0001t0005g0240
a0001c0001t0005g0249
a0001c0001t0005g0258
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0079
a0001c0001t0007g0101
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0134
a0001c0001t0007g0176
a0001c0001t0007g0250
a0001c0001t0007g0251
a0001c0001t0007g0262
a0001c0001t0007g0273
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0007g0306
a0001c0001t0007g0307
a0001c0001t0007g0308
a0001c0001t0007g0310
a0001c0001t0010g0072
a0001c0001t0010g0217
a0001c0001t0010g0244
a0001c0001t0010g0245
a0001c0001t0010g0248
a0001c0001t0010g0259
a0001c0001t0010g0265
a0001c0001t0011g0073
a0001c0001t0011g0156
a0001c0001t0011g0242
a0001c0001t0011g0246
a0001c0001t0012g0158
a0001c0001t0012g0161
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0013g0319
a0001c0001t0015g0298
a0001c0001t0016g0104
a0001c0001t0016g0108
a0001c0001t0016g0109
a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0001t0022g0243
a0001c0001t0023g0051
a0001c0001t0027g0103
a0001c0001t0028g0107
a0001c0001t0030g0159
a0001c0001t0031g0333
a0001c0001t0032g0216
a0001c0001t0033g0182
a0001c0001t0034g0185
a0001c0001t0037g0166
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0003t0003g0272
a0001c0003t0026g0237
a0001c0004t0003g0063
a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0091
a0001c0004t0004g0196
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0005g0238
a0001c0004t0036g0033
a0001c0006t0006g0077
a0001c0006t0006g0309
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0007t0001g0180
a0001c0007t0001g0181
a0001c0007t0001g0224
a0001c0007t0002g0173
a0001c0007t0002g0189
a0001c0007t0002g0191
a0001c0007t0002g0241
a0001c0007t0002g0312
a0001c0007t0041g0193
a0001c0007t0052g0177
a0001c0008t0008g0002
a0001c0008t0008g0013
a0001c0008t0008g0019
a0001c0008t0008g0029
a0001c0008t0008g0065
a0001c0008t0008g0174
a0001c0008t0008g0175
a0001c0008t0008g0178
a0001c0008t0008g0183
a0001c0008t0008g0194
a0001c0008t0008g0214
a0001c0008t0008g0215
a0001c0008t0047g0190
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0040g0027
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0015t0002g0049
a0001c0015t0002g0055
a0001c0016t0001g0081
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0018t0024g0047
a0001c0018t0024g0322
a0001c0026t0008g0348
a0002c0005t0002g0012
a0002c0005t0002g0034
a0002c0005t0002g0074
a0002c0005t0002g0286
a0003c0011t0006g0323
a0005c0019t0007g0133
a0006c0024t0019g0346
 179 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(176): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00558.hp2
HG00597.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01261.hp1
HG01496.hp1
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01975.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp2
HG02896.hp2
HG02965.hp1
HG03017.hp1
HG03041.hp2
HG03139.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03490.hp2
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18942.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18969.hp2
NA18973.hp1
NA18973.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18983.hp2
NA18989.hp1
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19043.hp2
NA19056.hp1
NA19058.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19083.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.940+728dupA
c.940+728dupA
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 6/17 INFO_REALIGN_3_PRIME chr19 11108220
chr19:11108220 C
C
 CAA
CAA
 33 a0001c0001t0005g0172
a0001c0001t0007g0078
a0001c0001t0007g0100
others(30): Show 
a0001c0001t0005g0172
a0001c0001t0007g0078
a0001c0001t0007g0100
a0001c0001t0007g0157
a0001c0001t0007g0171
a0001c0001t0007g0303
a0001c0001t0010g0239
a0001c0001t0012g0136
a0001c0001t0029g0132
a0001c0002t0001g0220
a0001c0002t0001g0255
a0001c0002t0001g0316
a0001c0002t0006g0276
a0001c0002t0015g0195
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0004t0004g0048
a0001c0004t0004g0281
a0001c0004t0038g0036
a0001c0007t0001g0165
a0001c0007t0002g0169
a0001c0007t0002g0170
a0001c0007t0002g0188
a0001c0007t0002g0199
a0001c0007t0002g0271
a0001c0007t0002g0301
a0001c0008t0008g0167
a0001c0009t0017g0268
a0001c0010t0011g0026
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0016t0001g0082
a0001c0020t0056g0264
 33 HG00423.hp1
HG00438.hp1
HG00621.hp2
others(30): Show 
HG00423.hp1
HG00438.hp1
HG00621.hp2
HG01081.hp2
HG01109.hp1
HG01175.hp1
HG01175.hp2
HG01261.hp2
HG01358.hp2
HG01891.hp1
HG01928.hp1
HG01934.hp2
HG01952.hp2
HG02055.hp1
HG02080.hp1
HG02080.hp2
HG02129.hp1
HG02738.hp2
HG02922.hp1
HG02965.hp2
HG03540.hp1
HG03831.hp1
HG04184.hp2
HG04228.hp2
NA18940.hp2
NA18943.hp2
NA18967.hp2
NA18975.hp1
NA18993.hp2
NA19064.hp1
NA19067.hp2
NA19070.hp1
NA20129.hp1
 intron_variant MODIFIER c.940+727_940+728dup
others(2): Show 
c.940+727_940+728dupAA
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 6/17 INFO_REALIGN_3_PRIME chr19 11108220
chr19:11108220 CA
CA
 C
C
 46 a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0269
others(43): Show 
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0269
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0143
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0005g0137
a0001c0003t0005g0142
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0055g0320
a0001c0003t0058g0293
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0046g0046
a0001c0021t0008g0287
a0001c0022t0005g0084
a0001c0023t0003g0291
a0002c0005t0002g0009
 49 HG00621.hp1
HG01109.hp2
HG01952.hp1
others(46): Show 
HG00621.hp1
HG01109.hp2
HG01952.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02280.hp1
HG02486.hp1
HG02486.hp2
HG02602.hp1
HG02615.hp1
HG02717.hp2
HG02809.hp2
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02970.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03516.hp1
HG03540.hp2
HG03688.hp2
NA18939.hp2
NA18943.hp1
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18967.hp1
NA18968.hp2
NA18971.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp2
NA19005.hp2
NA19064.hp2
NA19080.hp2
NA19085.hp1
NA19240.hp1
 intron_variant MODIFIER c.940+728delA
c.940+728delA
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 6/17 INFO_REALIGN_3_PRIME chr19 11108220
chr19:11108220 CAAAAAAA
others(3): Show 
CAAAAAAAAAA
 C
C
 1 a0001c0006t0005g0052
a0001c0006t0005g0052
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.940+719_940+728del
others(10): Show 
c.940+719_940+728delAAAAAAAAAA
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 6/17 INFO_REALIGN_3_PRIME chr19 11108220
chr19:11108220 CAAAAAAA
others(6): Show 
CAAAAAAAAAAAAA
 C
C
 1 a0001c0001t0012g0071
a0001c0001t0012g0071
 1 NA19000.hp2
NA19000.hp2
 intron_variant MODIFIER c.940+716_940+728del
others(13): Show 
c.940+716_940+728delAAAAAAAAAAAAA
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 6/17 INFO_REALIGN_3_PRIME chr19 11108220
chr19:11108289 G
G
 A
A
 59 a0001c0001t0011g0254
a0001c0003t0001g0001
a0001c0003t0001g0153
others(56): Show 
a0001c0001t0011g0254
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0007t0020g0318
a0001c0007t0020g0321
a0001c0021t0008g0287
a0001c0022t0005g0084
a0001c0023t0003g0291
a0001c0027t0003g0275
 61 HG00423.hp2
HG00544.hp1
HG00558.hp1
others(58): Show 
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG01884.hp1
HG01981.hp1
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02486.hp2
HG02602.hp1
HG02602.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp2
HG03516.hp1
HG03540.hp2
HG03688.hp2
HG03942.hp1
HG06807.hp1
NA18939.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18951.hp1
NA18952.hp1
NA18964.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp2
NA18979.hp1
NA18986.hp1
NA18986.hp2
NA18989.hp2
NA18993.hp1
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19056.hp2
NA19064.hp2
NA19074.hp1
NA19080.hp2
NA19083.hp2
NA19085.hp1
 intron_variant MODIFIER c.940+775G>A
c.940+775G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 6/17 chr19 11108289
chr19:11108298 T
T
 TTTG
TTTG
 233 a0001c0001t0011g0254
a0001c0002t0001g0005
a0001c0002t0001g0006
others(230): Show 
a0001c0001t0011g0254
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0026g0237
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0001g0095
a0001c0004t0003g0014
a0001c0004t0003g0063
a0001c0004t0004g0048
a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0005g0042
a0001c0004t0005g0238
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0036g0033
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0004t0046g0046
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0266
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0007t0001g0224
a0001c0007t0020g0035
a0001c0007t0020g0318
a0001c0007t0020g0321
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0013t0009g0339
a0001c0015t0002g0049
a0001c0015t0002g0055
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0020t0056g0264
a0001c0021t0008g0287
a0001c0022t0005g0084
a0001c0023t0003g0291
a0001c0027t0003g0275
a0002c0005t0002g0009
a0002c0005t0002g0028
a0002c0005t0002g0034
a0002c0005t0002g0039
a0002c0005t0002g0057
a0002c0005t0002g0074
a0002c0005t0002g0155
a0002c0005t0002g0197
a0002c0005t0002g0198
a0002c0005t0002g0263
a0002c0005t0002g0286
a0002c0005t0002g0317
a0002c0005t0002g0340
a0002c0005t0002g0341
a0002c0005t0002g0342
a0002c0005t0002g0343
a0002c0005t0002g0344
a0002c0005t0002g0345
a0002c0005t0002g0347
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
a0002c0025t0002g0056
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
a0004c0014t0004g0112
a0004c0014t0004g0113
a0006c0024t0019g0346
 239 HG00099.hp2
HG00408.hp1
HG00408.hp2
others(236): Show 
HG00099.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp1
HG01358.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18957.hp1
NA18961.hp1
NA18962.hp1
NA18964.hp2
NA18966.hp1
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18975.hp2
NA18979.hp1
NA18980.hp1
NA18983.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18992.hp1
NA18993.hp1
NA18995.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19070.hp2
NA19074.hp1
NA19079.hp2
NA19080.hp2
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.940+793_940+795dup
others(3): Show 
c.940+793_940+795dupGTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 6/17 INFO_REALIGN_3_PRIME chr19 11108298
chr19:11108372 C
C
 T
T
 53 a0001c0001t0011g0254
a0001c0003t0001g0001
a0001c0003t0001g0153
others(50): Show 
a0001c0001t0011g0254
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0007t0020g0318
a0001c0007t0020g0321
a0001c0021t0008g0287
a0001c0022t0005g0084
a0001c0023t0003g0291
 55 HG00423.hp2
HG00544.hp1
HG00558.hp1
others(52): Show 
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG01884.hp1
HG01981.hp1
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02602.hp1
HG02602.hp2
HG02809.hp2
HG02970.hp1
HG03130.hp2
HG03516.hp1
HG03540.hp2
HG03688.hp2
HG03942.hp1
HG06807.hp1
NA18939.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18951.hp1
NA18952.hp1
NA18964.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp2
NA18979.hp1
NA18986.hp1
NA18986.hp2
NA18989.hp2
NA18993.hp1
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19056.hp2
NA19064.hp2
NA19074.hp1
NA19080.hp2
NA19083.hp2
NA19085.hp1
 intron_variant MODIFIER c.940+858C>T
c.940+858C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 6/17 chr19 11108372
chr19:11108595 G
G
 GT
GT
 13 a0001c0001t0005g0249
a0001c0001t0007g0303
a0001c0001t0012g0136
others(10): Show 
a0001c0001t0005g0249
a0001c0001t0007g0303
a0001c0001t0012g0136
a0001c0001t0015g0298
a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0002t0006g0276
a0001c0003t0026g0064
a0001c0003t0055g0320
a0001c0003t0059g0129
a0001c0004t0004g0097
a0001c0008t0008g0296
a0001c0009t0040g0027
 14 HG00544.hp1
HG00597.hp1
HG01167.hp1
others(11): Show 
HG00544.hp1
HG00597.hp1
HG01167.hp1
HG01168.hp2
HG02055.hp1
HG02559.hp2
HG02630.hp2
HG03041.hp2
HG03225.hp2
HG03669.hp2
NA18961.hp2
NA18975.hp1
NA18993.hp2
NA19012.hp1
 intron_variant MODIFIER c.940+1092dupT
c.940+1092dupT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 6/17 INFO_REALIGN_3_PRIME chr19 11108595
chr19:11108605 T
T
 C
C
 2 a0001c0008t0008g0214
a0001c0026t0008g0348
a0001c0008t0008g0214
a0001c0026t0008g0348
 2 HG01261.hp1
HG03669.hp1
HG01261.hp1
HG03669.hp1
 intron_variant MODIFIER c.940+1091T>C
c.940+1091T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 6/17 chr19 11108605
chr19:11108610 C
C
 T
T
 1 a0001c0004t0005g0042
a0001c0004t0005g0042
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.940+1096C>T
c.940+1096C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 6/17 chr19 11108610
chr19:11108701 G
G
 T
T
 1 a0001c0001t0016g0109
a0001c0001t0016g0109
 1 NA18973.hp2
NA18973.hp2
 intron_variant MODIFIER c.940+1187G>T
c.940+1187G>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 6/17 chr19 11108701
chr19:11109069 T
T
 A
A
 1 a0001c0001t0007g0134
a0001c0001t0007g0134
 1 NA18969.hp2
NA18969.hp2
 intron_variant MODIFIER c.940+1555T>A
c.940+1555T>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 6/17 chr19 11109069
chr19:11109120 C
C
 T
T
 1 a0001c0003t0003g0124
a0001c0003t0003g0124
 1 HG02074.hp2
HG02074.hp2
 intron_variant MODIFIER c.941-1532C>T
c.941-1532C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 6/17 chr19 11109120
chr19:11109297 G
G
 A
A
 1 a0001c0003t0003g0334
a0001c0003t0003g0334
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.941-1355G>A
c.941-1355G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 6/17 chr19 11109297
chr19:11109314 G
G
 A
A
 1 a0001c0007t0002g0173
a0001c0007t0002g0173
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.941-1338G>A
c.941-1338G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 6/17 chr19 11109314
chr19:11109407 G
G
 C
C
 1 a0001c0004t0005g0042
a0001c0004t0005g0042
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.941-1245G>C
c.941-1245G>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 6/17 chr19 11109407
chr19:11109574 G
G
 T
T
 5 a0002c0005t0002g0074
a0002c0005t0002g0197
a0002c0005t0002g0198
others(2): Show 
a0002c0005t0002g0074
a0002c0005t0002g0197
a0002c0005t0002g0198
a0002c0005t0002g0263
a0002c0005t0002g0286
 5 HG02145.hp2
HG02622.hp2
HG03041.hp1
others(2): Show 
HG02145.hp2
HG02622.hp2
HG03041.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.941-1078G>T
c.941-1078G>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 6/17 chr19 11109574
chr19:11109624 G
G
 A
A
 1 a0001c0003t0059g0129
a0001c0003t0059g0129
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.941-1028G>A
c.941-1028G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 6/17 chr19 11109624
chr19:11109688 CT
CT
 C
C
 231 a0001c0001t0010g0239
a0001c0001t0011g0254
a0001c0002t0001g0005
others(228): Show 
a0001c0001t0010g0239
a0001c0001t0011g0254
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0026g0237
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0001g0095
a0001c0004t0003g0014
a0001c0004t0003g0063
a0001c0004t0004g0048
a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0005g0042
a0001c0004t0005g0238
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0036g0033
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0004t0046g0046
a0001c0006t0005g0052
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0266
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0007t0001g0224
a0001c0007t0020g0035
a0001c0007t0020g0318
a0001c0007t0020g0321
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0013t0009g0339
a0001c0015t0002g0049
a0001c0015t0002g0055
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0020t0056g0264
a0001c0021t0008g0287
a0001c0022t0005g0084
a0001c0023t0003g0291
a0001c0027t0003g0275
a0002c0005t0002g0009
a0002c0005t0002g0012
a0002c0005t0002g0028
a0002c0005t0002g0034
a0002c0005t0002g0039
a0002c0005t0002g0057
a0002c0005t0002g0074
a0002c0005t0002g0155
a0002c0005t0002g0197
a0002c0005t0002g0198
a0002c0005t0002g0263
a0002c0005t0002g0286
a0002c0005t0002g0317
a0002c0005t0002g0340
a0002c0005t0002g0341
a0002c0005t0002g0342
a0002c0005t0002g0343
a0002c0005t0002g0344
a0002c0005t0002g0345
a0002c0005t0002g0347
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
a0002c0025t0002g0056
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
a0004c0014t0004g0112
a0004c0014t0004g0113
a0006c0024t0019g0346
 237 HG00099.hp2
HG00408.hp1
HG00408.hp2
others(234): Show 
HG00099.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp1
HG01358.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18957.hp1
NA18961.hp1
NA18962.hp1
NA18964.hp2
NA18966.hp1
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18975.hp2
NA18979.hp1
NA18980.hp1
NA18983.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18992.hp1
NA18993.hp1
NA18995.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19070.hp2
NA19074.hp1
NA19079.hp2
NA19080.hp2
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.941-948delT
c.941-948delT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 6/17 INFO_REALIGN_3_PRIME chr19 11109688
chr19:11109734 G
G
 A
A
 83 a0001c0001t0011g0254
a0001c0003t0001g0001
a0001c0003t0001g0153
others(80): Show 
a0001c0001t0011g0254
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0007t0020g0318
a0001c0007t0020g0321
a0001c0021t0008g0287
a0001c0022t0005g0084
a0001c0023t0003g0291
a0001c0027t0003g0275
a0002c0005t0002g0009
a0002c0005t0002g0012
a0002c0005t0002g0028
a0002c0005t0002g0034
a0002c0005t0002g0039
a0002c0005t0002g0057
a0002c0005t0002g0074
a0002c0005t0002g0155
a0002c0005t0002g0197
a0002c0005t0002g0198
a0002c0005t0002g0263
a0002c0005t0002g0286
a0002c0005t0002g0317
a0002c0005t0002g0340
a0002c0005t0002g0341
a0002c0005t0002g0342
a0002c0005t0002g0343
a0002c0005t0002g0344
a0002c0005t0002g0345
a0002c0005t0002g0347
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
a0002c0025t0002g0056
 85 HG00423.hp2
HG00544.hp1
HG00558.hp1
others(82): Show 
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00738.hp2
HG01069.hp1
HG01071.hp2
HG01255.hp2
HG01358.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp1
HG01981.hp1
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02145.hp2
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03516.hp1
HG03540.hp2
HG03688.hp2
HG03942.hp1
HG06807.hp1
NA18522.hp2
NA18906.hp1
NA18939.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18951.hp1
NA18952.hp1
NA18964.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp2
NA18979.hp1
NA18986.hp1
NA18986.hp2
NA18989.hp2
NA18993.hp1
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19056.hp2
NA19064.hp2
NA19074.hp1
NA19080.hp2
NA19083.hp2
NA19085.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.941-918G>A
c.941-918G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 6/17 chr19 11109734
chr19:11109737 C
C
 A
A
 1 a0001c0007t0002g0189
a0001c0007t0002g0189
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.941-915C>A
c.941-915C>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 6/17 chr19 11109737
chr19:11109957 TC
TC
 T
T
 18 a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
others(15): Show 
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0050g0311
a0001c0006t0051g0337
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
 18 HG01081.hp1
HG01106.hp1
HG01167.hp2
others(15): Show 
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01169.hp2
HG01496.hp2
HG01975.hp1
HG02074.hp1
HG02738.hp1
HG03017.hp2
HG03704.hp2
NA18940.hp1
NA18954.hp2
NA18973.hp1
NA18983.hp1
NA18985.hp1
NA19011.hp2
NA19058.hp1
NA19079.hp2
 intron_variant MODIFIER c.941-692delC
c.941-692delC
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 6/17 INFO_REALIGN_3_PRIME chr19 11109957
chr19:11109959 C
C
 T
T
 18 a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
others(15): Show 
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0050g0311
a0001c0006t0051g0337
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
 18 HG01081.hp1
HG01106.hp1
HG01167.hp2
others(15): Show 
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01169.hp2
HG01496.hp2
HG01975.hp1
HG02074.hp1
HG02738.hp1
HG03017.hp2
HG03704.hp2
NA18940.hp1
NA18954.hp2
NA18973.hp1
NA18983.hp1
NA18985.hp1
NA19011.hp2
NA19058.hp1
NA19079.hp2
 intron_variant MODIFIER c.941-693C>T
c.941-693C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 6/17 chr19 11109959
chr19:11109978 G
G
 A
A
 22 a0002c0005t0002g0028
a0002c0005t0002g0034
a0002c0005t0002g0039
others(19): Show 
a0002c0005t0002g0028
a0002c0005t0002g0034
a0002c0005t0002g0039
a0002c0005t0002g0057
a0002c0005t0002g0074
a0002c0005t0002g0155
a0002c0005t0002g0197
a0002c0005t0002g0198
a0002c0005t0002g0263
a0002c0005t0002g0286
a0002c0005t0002g0317
a0002c0005t0002g0340
a0002c0005t0002g0341
a0002c0005t0002g0342
a0002c0005t0002g0343
a0002c0005t0002g0344
a0002c0005t0002g0345
a0002c0005t0002g0347
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
a0002c0025t0002g0056
 22 HG00738.hp2
HG01069.hp1
HG01071.hp2
others(19): Show 
HG00738.hp2
HG01069.hp1
HG01071.hp2
HG01255.hp2
HG01358.hp1
HG01516.hp2
HG01517.hp1
HG01934.hp1
HG02145.hp2
HG02280.hp2
HG02451.hp2
HG02622.hp1
HG02622.hp2
HG02818.hp1
HG02886.hp2
HG03041.hp1
HG03471.hp2
NA18522.hp2
NA18906.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.941-674G>A
c.941-674G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 6/17 chr19 11109978
chr19:11110055 C
C
 CTCCA
CTCCA
 84 a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
others(81): Show 
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0003t0026g0237
a0001c0004t0004g0048
a0001c0004t0004g0067
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0005g0238
a0001c0004t0036g0033
a0001c0004t0038g0036
a0001c0007t0001g0224
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0015t0002g0049
a0001c0015t0002g0055
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0020t0056g0264
a0004c0014t0004g0112
a0004c0014t0004g0113
 87 HG00099.hp2
HG00408.hp1
HG00423.hp1
others(84): Show 
HG00099.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02004.hp2
HG02055.hp1
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02148.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02647.hp2
HG02717.hp1
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03516.hp2
HG03540.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18948.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18961.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18992.hp1
NA18995.hp2
NA19001.hp1
NA19001.hp2
NA19009.hp2
NA19056.hp1
NA19065.hp1
NA19066.hp1
NA19070.hp2
NA19085.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.941-593_941-590dup
others(4): Show 
c.941-593_941-590dupATCC
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 6/17 INFO_REALIGN_3_PRIME chr19 11110055
chr19:11110196 G
G
 A
A
 3 a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
 3 NA18957.hp1
NA18980.hp1
NA19012.hp2
NA18957.hp1
NA18980.hp1
NA19012.hp2
 intron_variant MODIFIER c.941-456G>A
c.941-456G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 6/17 chr19 11110196
chr19:11110213 C
C
 G
G
 1 a0001c0004t0003g0014
a0001c0004t0003g0014
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.941-439C>G
c.941-439C>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 6/17 chr19 11110213
chr19:11110329 G
G
 C
C
 1 a0001c0001t0010g0239
a0001c0001t0010g0239
 1 HG01928.hp1
HG01928.hp1
 intron_variant MODIFIER c.941-323G>C
c.941-323G>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 6/17 chr19 11110329
chr19:11110332 C
C
 T
T
 1 a0001c0013t0004g0338
a0001c0013t0004g0338
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.941-320C>T
c.941-320C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 6/17 chr19 11110332
chr19:11110504 A
A
 G
G
 231 a0001c0001t0011g0254
a0001c0002t0001g0005
a0001c0002t0001g0006
others(228): Show 
a0001c0001t0011g0254
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0026g0237
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0001g0095
a0001c0004t0003g0014
a0001c0004t0003g0063
a0001c0004t0004g0048
a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0005g0042
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0036g0033
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0004t0046g0046
a0001c0006t0005g0052
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0266
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0007t0001g0224
a0001c0007t0020g0035
a0001c0007t0020g0318
a0001c0007t0020g0321
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0013t0009g0339
a0001c0015t0002g0049
a0001c0015t0002g0055
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0020t0056g0264
a0001c0021t0008g0287
a0001c0022t0005g0084
a0001c0023t0003g0291
a0001c0027t0003g0275
a0002c0005t0002g0009
a0002c0005t0002g0012
a0002c0005t0002g0028
a0002c0005t0002g0034
a0002c0005t0002g0039
a0002c0005t0002g0057
a0002c0005t0002g0074
a0002c0005t0002g0155
a0002c0005t0002g0197
a0002c0005t0002g0198
a0002c0005t0002g0263
a0002c0005t0002g0286
a0002c0005t0002g0317
a0002c0005t0002g0340
a0002c0005t0002g0341
a0002c0005t0002g0342
a0002c0005t0002g0343
a0002c0005t0002g0344
a0002c0005t0002g0345
a0002c0005t0002g0347
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
a0002c0025t0002g0056
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
a0004c0014t0004g0112
a0004c0014t0004g0113
a0006c0024t0019g0346
 237 HG00099.hp2
HG00408.hp1
HG00408.hp2
others(234): Show 
HG00099.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp1
HG01358.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG02004.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18957.hp1
NA18961.hp1
NA18962.hp1
NA18964.hp2
NA18966.hp1
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18975.hp2
NA18979.hp1
NA18980.hp1
NA18983.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18992.hp1
NA18993.hp1
NA18995.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19070.hp2
NA19074.hp1
NA19079.hp2
NA19080.hp2
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.941-148A>G
c.941-148A>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 6/17 chr19 11110504
chr19:11110648 G
G
 A
A
 2 a0001c0006t0005g0052
a0006c0024t0019g0346
a0001c0006t0005g0052
a0006c0024t0019g0346
 2 HG02630.hp1
HG03579.hp2
HG02630.hp1
HG03579.hp2
 splice_region_variant&intron_variant LOW c.941-4G>A
c.941-4G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 6/17 chr19 11110648
chr19:11110781 G
G
 C
C
 67 a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
others(64): Show 
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0003t0026g0237
a0001c0007t0001g0224
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0020t0056g0264
 70 HG00099.hp2
HG00408.hp1
HG00423.hp1
others(67): Show 
HG00099.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02148.hp2
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18948.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18961.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18992.hp1
NA18995.hp2
NA19001.hp1
NA19001.hp2
NA19009.hp2
NA19056.hp1
NA19065.hp1
NA19066.hp1
NA19070.hp2
NA19085.hp2
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1060+10G>C
c.1060+10G>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 7/17 chr19 11110781
chr19:11110830 A
A
 C
C
 1 a0002c0005t0002g0345
a0002c0005t0002g0345
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.1060+59A>C
c.1060+59A>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 7/17 chr19 11110830
chr19:11110880 T
T
 G
G
 17 a0001c0004t0005g0042
a0001c0004t0006g0145
a0001c0004t0009g0003
others(14): Show 
a0001c0004t0005g0042
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0046g0046
a0001c0013t0009g0339
 18 HG01109.hp2
HG01952.hp1
HG02055.hp2
others(15): Show 
HG01109.hp2
HG01952.hp1
HG02055.hp2
HG02280.hp1
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG02886.hp1
HG02895.hp1
HG02897.hp1
HG02970.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03453.hp1
NA19240.hp1
 intron_variant MODIFIER c.1060+109T>G
c.1060+109T>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 7/17 chr19 11110880
chr19:11110904 C
C
 T
T
 1 a0001c0003t0003g0115
a0001c0003t0003g0115
 1 NA18967.hp1
NA18967.hp1
 intron_variant MODIFIER c.1060+133C>T
c.1060+133C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 7/17 chr19 11110904
chr19:11110983 C
C
 T
T
 1 a0001c0001t0035g0020
a0001c0001t0035g0020
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.1060+212C>T
c.1060+212C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 7/17 chr19 11110983
chr19:11111270 G
G
 GA
GA
 90 a0001c0001t0007g0176
a0001c0001t0007g0250
a0001c0001t0007g0273
others(87): Show 
a0001c0001t0007g0176
a0001c0001t0007g0250
a0001c0001t0007g0273
a0001c0001t0007g0303
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0007g0308
a0001c0001t0010g0072
a0001c0001t0010g0265
a0001c0001t0011g0073
a0001c0001t0011g0156
a0001c0001t0012g0071
a0001c0001t0016g0109
a0001c0001t0029g0132
a0001c0002t0001g0220
a0001c0002t0001g0255
a0001c0002t0006g0114
a0001c0002t0042g0160
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0272
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0025g0022
a0001c0003t0054g0125
a0001c0004t0001g0095
a0001c0004t0003g0063
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0005g0042
a0001c0004t0006g0145
a0001c0004t0009g0144
a0001c0004t0009g0151
a0001c0004t0009g0283
a0001c0004t0039g0094
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0098
a0001c0006t0006g0266
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0007t0002g0173
a0001c0007t0002g0188
a0001c0007t0002g0191
a0001c0007t0020g0035
a0001c0008t0008g0013
a0001c0008t0008g0174
a0001c0008t0008g0175
a0001c0008t0008g0215
a0001c0008t0047g0190
a0001c0010t0005g0023
a0001c0010t0011g0026
a0001c0012t0015g0208
a0001c0013t0009g0339
a0001c0016t0001g0082
a0001c0017t0001g0274
a0001c0021t0008g0287
a0001c0022t0005g0084
a0001c0026t0008g0348
a0002c0005t0002g0198
a0002c0005t0008g0040
a0002c0005t0008g0044
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
 90 HG00408.hp2
HG00423.hp1
HG00544.hp2
others(87): Show 
HG00408.hp2
HG00423.hp1
HG00544.hp2
HG00597.hp2
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01261.hp1
HG01358.hp2
HG01496.hp1
HG01517.hp2
HG01891.hp1
HG01934.hp1
HG01975.hp1
HG01981.hp2
HG02015.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02129.hp2
HG02148.hp1
HG02257.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp2
HG02615.hp2
HG02698.hp1
HG02738.hp1
HG02922.hp2
HG02976.hp2
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03453.hp1
HG03490.hp1
HG03654.hp2
HG03704.hp2
HG03831.hp1
HG03942.hp2
NA18906.hp2
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18967.hp1
NA18967.hp2
NA18969.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18989.hp1
NA18990.hp1
NA18993.hp2
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp2
NA19002.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19043.hp1
NA19056.hp2
NA19058.hp1
NA19058.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.1061-236dupA
c.1061-236dupA
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 7/17 INFO_REALIGN_3_PRIME chr19 11111270
chr19:11111270 G
G
 GAA
GAA
 8 a0001c0004t0004g0089
a0001c0004t0004g0092
a0001c0004t0004g0278
others(5): Show 
a0001c0004t0004g0089
a0001c0004t0004g0092
a0001c0004t0004g0278
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0331
a0001c0006t0048g0016
a0001c0006t0051g0337
 8 HG01496.hp2
HG02074.hp1
HG02735.hp1
others(5): Show 
HG01496.hp2
HG02074.hp1
HG02735.hp1
HG02895.hp2
NA18939.hp1
NA18940.hp1
NA18954.hp2
NA19004.hp1
 intron_variant MODIFIER c.1061-237_1061-236d
others(4): Show 
c.1061-237_1061-236dupAA
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 7/17 INFO_REALIGN_3_PRIME chr19 11111270
chr19:11111275 A
A
 G
G
 6 a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
others(3): Show 
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0003t0026g0237
 6 HG00408.hp1
HG04115.hp2
NA18961.hp1
others(3): Show 
HG00408.hp1
HG04115.hp2
NA18961.hp1
NA18968.hp1
NA18995.hp2
NA19091.hp1
 intron_variant MODIFIER c.1061-239A>G
c.1061-239A>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 7/17 chr19 11111275
chr19:11111371 C
C
 T
T
 3 a0002c0005t0002g0340
a0002c0005t0002g0341
a0002c0005t0002g0344
a0002c0005t0002g0340
a0002c0005t0002g0341
a0002c0005t0002g0344
 3 HG01358.hp1
HG01516.hp2
HG01517.hp1
HG01358.hp1
HG01516.hp2
HG01517.hp1
 intron_variant MODIFIER c.1061-143C>T
c.1061-143C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 7/17 chr19 11111371
chr19:11111377 C
C
 G
G
 1 a0001c0003t0005g0137
a0001c0003t0005g0137
 1 NA18968.hp2
NA18968.hp2
 intron_variant MODIFIER c.1061-137C>G
c.1061-137C>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 7/17 chr19 11111377
chr19:11111432 G
G
 C
C
 1 a0001c0004t0003g0014
a0001c0004t0003g0014
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.1061-82G>C
c.1061-82G>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 7/17 chr19 11111432
chr19:11111506 T
T
 C
C
 1 a0001c0004t0003g0014
a0001c0004t0003g0014
 1 HG02145.hp1
HG02145.hp1
 splice_region_variant&intron_variant LOW c.1061-8T>C
c.1061-8T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 7/17 chr19 11111506
chr19:11111806 C
C
 T
T
 16 a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
others(13): Show 
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0046g0046
a0001c0013t0009g0339
 17 HG01109.hp2
HG01952.hp1
HG02055.hp2
others(14): Show 
HG01109.hp2
HG01952.hp1
HG02055.hp2
HG02280.hp1
HG02486.hp1
HG02615.hp1
HG02717.hp2
HG02886.hp1
HG02895.hp1
HG02897.hp1
HG02970.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03453.hp1
NA19240.hp1
 intron_variant MODIFIER c.1186+167C>T
c.1186+167C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 8/17 chr19 11111806
chr19:11112003 G
G
 A
A
 1 a0001c0004t0009g0144
a0001c0004t0009g0144
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1186+364G>A
c.1186+364G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 8/17 chr19 11112003
chr19:11112005 G
G
 A
A
 16 a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
others(13): Show 
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0046g0046
a0001c0013t0009g0339
 17 HG01109.hp2
HG01952.hp1
HG02055.hp2
others(14): Show 
HG01109.hp2
HG01952.hp1
HG02055.hp2
HG02280.hp1
HG02486.hp1
HG02615.hp1
HG02717.hp2
HG02886.hp1
HG02895.hp1
HG02897.hp1
HG02970.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03453.hp1
NA19240.hp1
 intron_variant MODIFIER c.1186+366G>A
c.1186+366G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 8/17 chr19 11112005
chr19:11112109 T
T
 C
C
 13 a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0269
others(10): Show 
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0269
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0022t0005g0084
 15 HG01981.hp1
HG02056.hp2
HG02148.hp1
others(12): Show 
HG01981.hp1
HG02056.hp2
HG02148.hp1
HG02155.hp2
NA18943.hp1
NA18968.hp2
NA18971.hp2
NA18986.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp2
NA19005.hp2
NA19056.hp2
NA19064.hp2
NA19083.hp2
 intron_variant MODIFIER c.1186+470T>C
c.1186+470T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 8/17 chr19 11112109
chr19:11112110 C
C
 CT
CT
 9 a0001c0001t0015g0298
a0001c0002t0001g0236
a0001c0002t0001g0252
others(6): Show 
a0001c0001t0015g0298
a0001c0002t0001g0236
a0001c0002t0001g0252
a0001c0003t0003g0272
a0001c0003t0005g0138
a0001c0004t0003g0014
a0001c0004t0018g0187
a0001c0006t0006g0331
a0001c0007t0002g0188
 9 HG01981.hp1
HG02145.hp1
HG02818.hp2
others(6): Show 
HG01981.hp1
HG02145.hp1
HG02818.hp2
NA18940.hp1
NA18953.hp2
NA18961.hp2
NA18967.hp2
NA18979.hp1
NA19012.hp2
 intron_variant MODIFIER c.1186+486dupT
c.1186+486dupT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 8/17 INFO_REALIGN_3_PRIME chr19 11112110
chr19:11112132 G
G
 A
A
 1 a0001c0004t0038g0036
a0001c0004t0038g0036
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.1186+493G>A
c.1186+493G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 8/17 chr19 11112132
chr19:11112150 C
C
 T
T
 1 a0002c0005t0002g0034
a0002c0005t0002g0034
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1186+511C>T
c.1186+511C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 8/17 chr19 11112150
chr19:11112310 T
T
 C
C
 3 a0001c0002t0001g0075
a0001c0002t0001g0314
a0001c0002t0001g0316
a0001c0002t0001g0075
a0001c0002t0001g0314
a0001c0002t0001g0316
 3 HG03710.hp1
HG03710.hp2
HG04228.hp2
HG03710.hp1
HG03710.hp2
HG04228.hp2
 intron_variant MODIFIER c.1186+671T>C
c.1186+671T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 8/17 chr19 11112310
chr19:11112311 G
G
 A
A
 3 a0001c0002t0001g0075
a0001c0002t0001g0314
a0001c0002t0001g0316
a0001c0002t0001g0075
a0001c0002t0001g0314
a0001c0002t0001g0316
 3 HG03710.hp1
HG03710.hp2
HG04228.hp2
HG03710.hp1
HG03710.hp2
HG04228.hp2
 intron_variant MODIFIER c.1186+672G>A
c.1186+672G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 8/17 chr19 11112311
chr19:11112360 C
C
 T
T
 1 a0001c0008t0008g0296
a0001c0008t0008g0296
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.1186+721C>T
c.1186+721C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 8/17 chr19 11112360
chr19:11112400 C
C
 T
T
 1 a0001c0002t0001g0235
a0001c0002t0001g0235
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.1186+761C>T
c.1186+761C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 8/17 chr19 11112400
chr19:11112408 C
C
 G
G
 1 a0001c0004t0005g0042
a0001c0004t0005g0042
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.1186+769C>G
c.1186+769C>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 8/17 chr19 11112408
chr19:11112514 T
T
 G
G
 3 a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
 3 HG02055.hp1
HG02965.hp1
NA20129.hp2
HG02055.hp1
HG02965.hp1
NA20129.hp2
 intron_variant MODIFIER c.1187-764T>G
c.1187-764T>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 8/17 chr19 11112514
chr19:11112572 A
A
 G
G
 1 a0001c0003t0003g0289
a0001c0003t0003g0289
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.1187-706A>G
c.1187-706A>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 8/17 chr19 11112572
chr19:11112646 G
G
 A
A
 1 a0001c0002t0001g0315
a0001c0002t0001g0315
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.1187-632G>A
c.1187-632G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 8/17 chr19 11112646
chr19:11112664 G
G
 A
A
 1 a0001c0002t0001g0220
a0001c0002t0001g0220
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.1187-614G>A
c.1187-614G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 8/17 chr19 11112664
chr19:11112705 A
A
 AT
AT
 28 a0001c0001t0007g0305
a0001c0001t0010g0265
a0001c0001t0011g0246
others(25): Show 
a0001c0001t0007g0305
a0001c0001t0010g0265
a0001c0001t0011g0246
a0001c0001t0011g0254
a0001c0001t0012g0161
a0001c0003t0001g0202
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0203
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0290
a0001c0003t0003g0334
a0001c0003t0005g0148
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0057g0127
a0001c0003t0059g0129
a0001c0004t0005g0042
a0001c0004t0018g0120
a0001c0008t0008g0194
a0001c0010t0010g0024
a0001c0010t0011g0026
 28 HG00423.hp2
HG00544.hp1
HG00558.hp1
others(25): Show 
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00642.hp2
HG01257.hp2
HG01517.hp2
HG02074.hp2
HG02602.hp2
HG02615.hp2
HG03130.hp2
HG03704.hp1
HG03831.hp1
HG03942.hp1
HG06807.hp1
NA18941.hp1
NA18942.hp2
NA18953.hp1
NA18957.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18979.hp1
NA18995.hp1
NA19007.hp1
NA19007.hp2
NA19074.hp1
NA19083.hp2
 intron_variant MODIFIER c.1187-554dupT
c.1187-554dupT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 8/17 INFO_REALIGN_3_PRIME chr19 11112705
chr19:11112705 A
A
 ATT
ATT
 11 a0001c0002t0001g0086
a0001c0002t0001g0223
a0001c0002t0001g0225
others(8): Show 
a0001c0002t0001g0086
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0235
a0001c0002t0006g0043
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0015g0195
a0001c0004t0003g0014
a0001c0004t0004g0048
a0001c0007t0001g0224
 11 HG01099.hp2
HG01257.hp1
HG02145.hp1
others(8): Show 
HG01099.hp2
HG01257.hp1
HG02145.hp1
HG02300.hp1
HG02735.hp2
HG02738.hp2
HG02965.hp1
NA18968.hp1
NA19091.hp1
NA20129.hp1
NA20805.hp1
 intron_variant MODIFIER c.1187-555_1187-554d
others(4): Show 
c.1187-555_1187-554dupTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 8/17 INFO_REALIGN_3_PRIME chr19 11112705
chr19:11112705 A
A
 ATTT
ATTT
 72 a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
others(69): Show 
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0253
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0003t0026g0237
a0001c0004t0004g0067
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0005g0238
a0001c0004t0036g0033
a0001c0004t0038g0036
a0001c0006t0005g0052
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0020t0056g0264
a0004c0014t0004g0112
a0004c0014t0004g0113
a0006c0024t0019g0346
 75 HG00099.hp2
HG00408.hp1
HG00423.hp1
others(72): Show 
HG00099.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01358.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02004.hp2
HG02055.hp1
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02148.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp2
HG02273.hp1
HG02630.hp1
HG02647.hp2
HG02818.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03540.hp1
HG03579.hp2
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18948.hp2
NA18951.hp2
NA18952.hp2
NA18961.hp1
NA18962.hp1
NA18966.hp1
NA18992.hp1
NA18995.hp2
NA19001.hp1
NA19001.hp2
NA19009.hp2
NA19056.hp1
NA19065.hp1
NA19066.hp1
NA19070.hp2
NA19085.hp2
NA19091.hp2
NA20129.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1187-556_1187-554d
others(5): Show 
c.1187-556_1187-554dupTTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 8/17 INFO_REALIGN_3_PRIME chr19 11112705
chr19:11112705 AT
AT
 A
A
 6 a0001c0001t0005g0162
a0001c0001t0007g0306
a0001c0001t0021g0267
others(3): Show 
a0001c0001t0005g0162
a0001c0001t0007g0306
a0001c0001t0021g0267
a0001c0004t0004g0278
a0001c0006t0006g0324
a0001c0008t0008g0296
 6 HG01167.hp1
HG01169.hp2
HG02735.hp1
others(3): Show 
HG01167.hp1
HG01169.hp2
HG02735.hp1
HG03041.hp2
NA18954.hp1
NA19074.hp2
 intron_variant MODIFIER c.1187-554delT
c.1187-554delT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 8/17 INFO_REALIGN_3_PRIME chr19 11112705
chr19:11112903 C
C
 T
T
 1 a0001c0003t0003g0143
a0001c0003t0003g0143
 1 NA19085.hp1
NA19085.hp1
 intron_variant MODIFIER c.1187-375C>T
c.1187-375C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 8/17 chr19 11112903
chr19:11112986 G
G
 GC
GC
 4 a0002c0005t0002g0057
a0002c0005t0008g0044
a0002c0005t0008g0277
others(1): Show 
a0002c0005t0002g0057
a0002c0005t0008g0044
a0002c0005t0008g0277
a0002c0025t0002g0056
 4 HG02280.hp2
HG02622.hp1
HG02818.hp1
others(1): Show 
HG02280.hp2
HG02622.hp1
HG02818.hp1
NA20300.hp1
 intron_variant MODIFIER c.1187-291dupC
c.1187-291dupC
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 8/17 INFO_REALIGN_3_PRIME chr19 11112986
chr19:11112987 C
C
 CT
CT
 71 a0001c0001t0005g0172
a0001c0001t0007g0100
a0001c0001t0007g0101
others(68): Show 
a0001c0001t0005g0172
a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0176
a0001c0001t0007g0308
a0001c0001t0010g0217
a0001c0001t0011g0073
a0001c0001t0012g0071
a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0001t0033g0182
a0001c0003t0005g0137
a0001c0004t0001g0095
a0001c0004t0003g0063
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0099
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0019g0117
a0001c0004t0039g0094
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0266
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0007t0002g0173
a0001c0007t0020g0321
a0001c0010t0005g0025
a0002c0005t0002g0012
a0002c0005t0002g0028
a0002c0005t0002g0039
a0002c0005t0002g0074
a0002c0005t0002g0155
a0002c0005t0002g0197
a0002c0005t0002g0198
a0002c0005t0002g0263
a0002c0005t0002g0286
a0002c0005t0002g0317
a0002c0005t0002g0340
a0002c0005t0002g0341
a0002c0005t0002g0342
a0002c0005t0002g0343
a0002c0005t0002g0344
a0002c0005t0002g0345
a0002c0005t0002g0347
a0003c0011t0006g0323
a0003c0011t0006g0336
 72 HG00408.hp2
HG00544.hp2
HG00558.hp2
others(69): Show 
HG00408.hp2
HG00544.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp2
HG00738.hp2
HG01069.hp1
HG01071.hp2
HG01081.hp1
HG01167.hp2
HG01169.hp2
HG01255.hp2
HG01358.hp1
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01975.hp1
HG02015.hp1
HG02074.hp1
HG02129.hp2
HG02145.hp2
HG02257.hp2
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp2
HG02630.hp2
HG02735.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03195.hp2
HG03225.hp1
HG03471.hp2
HG03490.hp1
HG03654.hp2
HG03688.hp1
HG03704.hp2
HG04204.hp2
NA18522.hp2
NA18906.hp1
NA18939.hp1
NA18940.hp1
NA18950.hp2
NA18954.hp2
NA18968.hp2
NA18969.hp1
NA18973.hp1
NA18983.hp1
NA18983.hp2
NA18985.hp2
NA18990.hp1
NA19000.hp2
NA19004.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19058.hp1
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19079.hp2
NA19080.hp1
NA19240.hp2
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1187-269dupT
c.1187-269dupT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 8/17 INFO_REALIGN_3_PRIME chr19 11112987
chr19:11112987 C
C
 CTT
CTT
 60 a0001c0001t0011g0254
a0001c0003t0001g0001
a0001c0003t0001g0153
others(57): Show 
a0001c0001t0011g0254
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0294
a0001c0003t0023g0149
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0054g0125
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0004g0080
a0001c0004t0004g0097
a0001c0004t0004g0110
a0001c0004t0005g0042
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
a0001c0004t0019g0118
a0001c0004t0046g0046
a0001c0006t0006g0329
a0001c0006t0006g0332
a0001c0013t0009g0339
a0001c0015t0002g0055
a0001c0021t0008g0287
a0001c0022t0005g0084
a0001c0023t0003g0291
a0002c0005t0002g0034
a0003c0011t0006g0328
 63 HG00544.hp1
HG00597.hp1
HG01106.hp1
others(60): Show 
HG00544.hp1
HG00597.hp1
HG01106.hp1
HG01109.hp2
HG01952.hp1
HG01981.hp1
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02280.hp1
HG02486.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02717.hp1
HG02717.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02970.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03453.hp1
HG03540.hp2
HG03688.hp2
HG06807.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18951.hp1
NA18952.hp1
NA18957.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp2
NA18979.hp1
NA18980.hp1
NA18985.hp1
NA18989.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19012.hp1
NA19012.hp2
NA19056.hp2
NA19064.hp2
NA19080.hp2
NA19085.hp1
NA19240.hp1
 intron_variant MODIFIER c.1187-270_1187-269d
others(4): Show 
c.1187-270_1187-269dupTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 8/17 INFO_REALIGN_3_PRIME chr19 11112987
chr19:11112987 C
C
 CTTT
CTTT
 22 a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
others(19): Show 
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0128
a0001c0003t0003g0164
a0001c0003t0003g0288
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0006g0031
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0053g0123
a0001c0004t0006g0145
a0001c0004t0009g0144
a0001c0015t0002g0049
a0002c0005t0002g0009
 22 HG00558.hp1
HG00621.hp1
HG02055.hp2
others(19): Show 
HG00558.hp1
HG00621.hp1
HG02055.hp2
HG02486.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp1
HG03130.hp1
HG03453.hp2
HG03516.hp1
HG03516.hp2
HG03942.hp1
NA18967.hp1
NA18986.hp1
NA18986.hp2
NA18989.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp2
NA19010.hp1
NA19074.hp1
NA19083.hp2
 intron_variant MODIFIER c.1187-271_1187-269d
others(5): Show 
c.1187-271_1187-269dupTTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 8/17 INFO_REALIGN_3_PRIME chr19 11112987
chr19:11112987 CT
CT
 C
C
 21 a0001c0001t0005g0249
a0001c0001t0027g0103
a0001c0007t0002g0169
others(18): Show 
a0001c0001t0005g0249
a0001c0001t0027g0103
a0001c0007t0002g0169
a0001c0007t0002g0170
a0001c0007t0002g0191
a0001c0007t0002g0301
a0001c0007t0052g0177
a0001c0008t0008g0002
a0001c0008t0008g0013
a0001c0008t0008g0019
a0001c0008t0008g0029
a0001c0008t0008g0065
a0001c0008t0008g0174
a0001c0008t0008g0175
a0001c0008t0008g0178
a0001c0008t0008g0183
a0001c0008t0008g0194
a0001c0008t0008g0214
a0001c0008t0008g0215
a0001c0008t0008g0296
a0001c0008t0047g0190
 23 HG00438.hp1
HG01074.hp2
HG01167.hp1
others(20): Show 
HG00438.hp1
HG01074.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01257.hp2
HG01496.hp1
HG01516.hp1
HG01981.hp2
HG02300.hp2
HG02451.hp1
HG03139.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
NA18906.hp2
NA18943.hp2
NA18957.hp2
NA18979.hp2
NA18992.hp2
NA19043.hp2
NA19064.hp1
NA20805.hp2
 intron_variant MODIFIER c.1187-269delT
c.1187-269delT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 8/17 INFO_REALIGN_3_PRIME chr19 11112987
chr19:11113008 T
T
 G
G
 1 a0001c0002t0001g0223
a0001c0002t0001g0223
 1 HG01257.hp1
HG01257.hp1
 intron_variant MODIFIER c.1187-270T>G
c.1187-270T>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 8/17 chr19 11113008
chr19:11113008 T
T
 TG
TG
 3 a0001c0004t0003g0014
a0001c0006t0005g0052
a0006c0024t0019g0346
a0001c0004t0003g0014
a0001c0006t0005g0052
a0006c0024t0019g0346
 3 HG02145.hp1
HG02630.hp1
HG03579.hp2
HG02145.hp1
HG02630.hp1
HG03579.hp2
 intron_variant MODIFIER c.1187-270_1187-269i
others(3): Show 
c.1187-270_1187-269insG
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 8/17 chr19 11113008
chr19:11113008 T
T
 TGTG
TGTG
 71 a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0066
others(68): Show 
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0222
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0012g0059
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0003t0026g0237
a0001c0004t0004g0048
a0001c0004t0004g0067
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0005g0238
a0001c0004t0036g0033
a0001c0004t0038g0036
a0001c0007t0001g0224
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0020t0056g0264
 74 HG00099.hp2
HG00408.hp1
HG00423.hp1
others(71): Show 
HG00099.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01358.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02004.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02148.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02647.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03540.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG04184.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18948.hp2
NA18951.hp2
NA18952.hp2
NA18961.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18992.hp1
NA18995.hp2
NA19001.hp1
NA19001.hp2
NA19009.hp2
NA19056.hp1
NA19065.hp1
NA19066.hp1
NA19070.hp2
NA19085.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1187-270_1187-269i
others(5): Show 
c.1187-270_1187-269insGTG
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 8/17 chr19 11113008
chr19:11113008 T
T
 TTGTG
TTGTG
 10 a0001c0002t0001g0018
a0001c0002t0001g0220
a0001c0002t0001g0236
others(7): Show 
a0001c0002t0001g0018
a0001c0002t0001g0220
a0001c0002t0001g0236
a0001c0002t0001g0299
a0001c0002t0006g0276
a0001c0002t0014g0207
a0001c0002t0043g0076
a0001c0004t0004g0281
a0004c0014t0004g0112
a0004c0014t0004g0113
 10 HG01175.hp1
HG01891.hp1
HG01891.hp2
others(7): Show 
HG01175.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02976.hp1
HG03831.hp2
HG03834.hp2
HG04115.hp2
HG04204.hp1
NA18953.hp2
 intron_variant MODIFIER c.1187-269_1187-266d
others(6): Show 
c.1187-269_1187-266dupTGTG
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 8/17 INFO_REALIGN_3_PRIME chr19 11113008
chr19:11113097 G
G
 A
A
 1 a0001c0004t0005g0042
a0001c0004t0005g0042
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.1187-181G>A
c.1187-181G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 8/17 chr19 11113097
chr19:11113253 C
C
 T
T
 2 a0001c0006t0005g0052
a0006c0024t0019g0346
a0001c0006t0005g0052
a0006c0024t0019g0346
 2 HG02630.hp1
HG03579.hp2
HG02630.hp1
HG03579.hp2
 intron_variant MODIFIER c.1187-25C>T
c.1187-25C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 8/17 chr19 11113253
chr19:11113480 C
C
 T
T
 1 a0001c0004t0004g0048
a0001c0004t0004g0048
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.1358+31C>T
c.1358+31C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 9/17 chr19 11113480
chr19:11113481 C
C
 T
T
 19 a0001c0004t0003g0014
a0001c0004t0006g0145
a0001c0004t0009g0003
others(16): Show 
a0001c0004t0003g0014
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0046g0046
a0001c0006t0005g0052
a0001c0013t0009g0339
a0006c0024t0019g0346
 20 HG01109.hp2
HG01952.hp1
HG02055.hp2
others(17): Show 
HG01109.hp2
HG01952.hp1
HG02055.hp2
HG02145.hp1
HG02280.hp1
HG02486.hp1
HG02615.hp1
HG02630.hp1
HG02717.hp2
HG02886.hp1
HG02895.hp1
HG02897.hp1
HG02970.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03453.hp1
HG03579.hp2
NA19240.hp1
 intron_variant MODIFIER c.1358+32C>T
c.1358+32C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 9/17 chr19 11113481
chr19:11113505 C
C
 T
T
 67 a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
others(64): Show 
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0003t0026g0237
a0001c0004t0005g0238
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0020t0056g0264
 70 HG00099.hp2
HG00408.hp1
HG00423.hp1
others(67): Show 
HG00099.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02004.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02148.hp2
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18948.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18961.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18992.hp1
NA18995.hp2
NA19001.hp1
NA19001.hp2
NA19009.hp2
NA19056.hp1
NA19065.hp1
NA19066.hp1
NA19070.hp2
NA19085.hp2
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1359-30C>T
c.1359-30C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 9/17 chr19 11113505
chr19:11113778 G
G
 A
A
 2 a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0037
a0001c0006t0006g0038
 2 HG02922.hp2
HG03225.hp1
HG02922.hp2
HG03225.hp1
 intron_variant MODIFIER c.1586+16G>A
c.1586+16G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 10/17 chr19 11113778
chr19:11113815 A
A
 G
G
 97 a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
others(94): Show 
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0003t0026g0237
a0001c0004t0003g0014
a0001c0004t0004g0067
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0005g0238
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0036g0033
a0001c0004t0046g0046
a0001c0006t0005g0052
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0013t0009g0339
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0020t0056g0264
a0006c0024t0019g0346
 101 HG00099.hp2
HG00408.hp1
HG00423.hp1
others(98): Show 
HG00099.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp2
HG01891.hp1
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02148.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03490.hp2
HG03579.hp2
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18948.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18957.hp1
NA18961.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18980.hp1
NA18992.hp1
NA18995.hp2
NA19001.hp1
NA19001.hp2
NA19009.hp2
NA19012.hp2
NA19056.hp1
NA19065.hp1
NA19066.hp1
NA19070.hp2
NA19085.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1586+53A>G
c.1586+53A>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 10/17 chr19 11113815
chr19:11113916 A
A
 G
G
 25 a0001c0004t0005g0042
a0001c0006t0006g0037
a0001c0006t0006g0038
others(22): Show 
a0001c0004t0005g0042
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0266
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
 25 HG01081.hp1
HG01106.hp1
HG01167.hp2
others(22): Show 
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01169.hp2
HG01496.hp2
HG01975.hp1
HG02074.hp1
HG02257.hp2
HG02615.hp2
HG02738.hp1
HG02895.hp2
HG02922.hp2
HG02976.hp2
HG03017.hp2
HG03195.hp2
HG03225.hp1
HG03704.hp2
NA18940.hp1
NA18954.hp2
NA18973.hp1
NA18983.hp1
NA18985.hp1
NA19011.hp2
NA19058.hp1
NA19079.hp2
 intron_variant MODIFIER c.1586+154A>G
c.1586+154A>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 10/17 chr19 11113916
chr19:11113996 C
C
 T
T
 5 a0001c0004t0004g0067
a0001c0004t0004g0281
a0001c0004t0004g0282
others(2): Show 
a0001c0004t0004g0067
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0036g0033
 5 HG01891.hp1
HG02257.hp1
HG02647.hp2
others(2): Show 
HG01891.hp1
HG02257.hp1
HG02647.hp2
HG02896.hp2
NA18522.hp1
 intron_variant MODIFIER c.1586+234C>T
c.1586+234C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 10/17 chr19 11113996
chr19:11114026 A
A
 T
T
 1 a0002c0005t0002g0345
a0002c0005t0002g0345
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.1586+264A>T
c.1586+264A>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 10/17 chr19 11114026
chr19:11114105 C
C
 CA
CA
 7 a0001c0001t0005g0060
a0001c0001t0005g0179
a0001c0004t0003g0014
others(4): Show 
a0001c0001t0005g0060
a0001c0001t0005g0179
a0001c0004t0003g0014
a0001c0004t0004g0091
a0001c0004t0004g0097
a0001c0007t0002g0188
a0001c0010t0010g0024
 7 HG00735.hp1
HG02145.hp1
HG03654.hp1
others(4): Show 
HG00735.hp1
HG02145.hp1
HG03654.hp1
HG03704.hp1
NA18967.hp2
NA18990.hp1
NA19012.hp1
 intron_variant MODIFIER c.1586+360dupA
c.1586+360dupA
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 10/17 INFO_REALIGN_3_PRIME chr19 11114105
chr19:11114105 CA
CA
 C
C
 85 a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
others(82): Show 
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0004g0048
a0001c0004t0005g0042
a0001c0004t0038g0036
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0266
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0008t0008g0215
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0018t0024g0047
a0001c0018t0024g0322
a0001c0022t0005g0084
a0001c0023t0003g0291
a0001c0027t0003g0275
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
a0004c0014t0004g0112
a0004c0014t0004g0113
 87 HG00423.hp2
HG00544.hp1
HG00558.hp1
others(84): Show 
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01169.hp2
HG01496.hp2
HG01891.hp2
HG01975.hp1
HG01981.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02300.hp2
HG02486.hp2
HG02602.hp1
HG02615.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp1
HG06807.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp1
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18954.hp2
NA18964.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18975.hp2
NA18979.hp1
NA18983.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18989.hp2
NA18993.hp1
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp2
NA19056.hp2
NA19058.hp1
NA19064.hp2
NA19079.hp2
NA19080.hp2
NA19083.hp2
NA19085.hp1
NA20129.hp1
 intron_variant MODIFIER c.1586+360delA
c.1586+360delA
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 10/17 INFO_REALIGN_3_PRIME chr19 11114105
chr19:11114105 CAA
CAA
 C
C
 119 a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
others(116): Show 
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0003t0003g0032
a0001c0003t0003g0204
a0001c0003t0026g0237
a0001c0004t0005g0238
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0046g0046
a0001c0006t0005g0052
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0013t0009g0339
a0001c0015t0002g0049
a0001c0015t0002g0055
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0020t0056g0264
a0002c0005t0002g0009
a0002c0005t0002g0012
a0002c0005t0002g0028
a0002c0005t0002g0034
a0002c0005t0002g0039
a0002c0005t0002g0057
a0002c0005t0002g0074
a0002c0005t0002g0155
a0002c0005t0002g0197
a0002c0005t0002g0198
a0002c0005t0002g0263
a0002c0005t0002g0286
a0002c0005t0002g0317
a0002c0005t0002g0340
a0002c0005t0002g0341
a0002c0005t0002g0342
a0002c0005t0002g0343
a0002c0005t0002g0344
a0002c0005t0002g0345
a0002c0005t0002g0347
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
a0002c0025t0002g0056
a0006c0024t0019g0346
 123 HG00099.hp2
HG00408.hp1
HG00423.hp1
others(120): Show 
HG00099.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp1
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp2
HG02148.hp2
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03516.hp2
HG03579.hp2
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18948.hp1
NA18948.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18957.hp1
NA18961.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18980.hp1
NA18992.hp1
NA18995.hp2
NA19001.hp1
NA19001.hp2
NA19009.hp2
NA19012.hp2
NA19056.hp1
NA19065.hp1
NA19066.hp1
NA19070.hp2
NA19085.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1586+359_1586+360d
others(4): Show 
c.1586+359_1586+360delAA
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 10/17 INFO_REALIGN_3_PRIME chr19 11114105
chr19:11114198 G
G
 A
A
 1 a0001c0003t0003g0068
a0001c0003t0003g0068
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.1586+436G>A
c.1586+436G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 10/17 chr19 11114198
chr19:11114212 G
G
 C
C
 2 a0001c0006t0005g0052
a0006c0024t0019g0346
a0001c0006t0005g0052
a0006c0024t0019g0346
 2 HG02630.hp1
HG03579.hp2
HG02630.hp1
HG03579.hp2
 intron_variant MODIFIER c.1586+450G>C
c.1586+450G>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 10/17 chr19 11114212
chr19:11114255 C
C
 T
T
 134 a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
others(131): Show 
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0026g0237
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0001g0095
a0001c0004t0003g0063
a0001c0004t0004g0048
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0005g0042
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0266
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0015t0002g0049
a0001c0015t0002g0055
a0001c0021t0008g0287
a0001c0022t0005g0084
a0001c0023t0003g0291
a0001c0027t0003g0275
a0002c0005t0002g0009
a0002c0005t0002g0012
a0002c0005t0002g0028
a0002c0005t0002g0034
a0002c0005t0002g0039
a0002c0005t0002g0057
a0002c0005t0002g0074
a0002c0005t0002g0155
a0002c0005t0002g0197
a0002c0005t0002g0198
a0002c0005t0002g0263
a0002c0005t0002g0286
a0002c0005t0002g0317
a0002c0005t0002g0340
a0002c0005t0002g0341
a0002c0005t0002g0342
a0002c0005t0002g0343
a0002c0005t0002g0344
a0002c0005t0002g0345
a0002c0005t0002g0347
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
a0002c0025t0002g0056
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
a0004c0014t0004g0112
a0004c0014t0004g0113
 136 HG00408.hp1
HG00408.hp2
HG00423.hp2
others(133): Show 
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00738.hp2
HG01069.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01169.hp2
HG01255.hp2
HG01358.hp1
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01891.hp2
HG01934.hp1
HG01975.hp1
HG01981.hp1
HG02015.hp1
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02129.hp2
HG02145.hp2
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02717.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03688.hp2
HG03704.hp2
HG03942.hp1
HG06807.hp1
NA18522.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp2
NA18964.hp2
NA18967.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18975.hp2
NA18979.hp1
NA18983.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18993.hp1
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19056.hp2
NA19058.hp1
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19074.hp1
NA19079.hp2
NA19080.hp2
NA19083.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.1586+493C>T
c.1586+493C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 10/17 chr19 11114255
chr19:11114256 G
G
 A
A
 19 a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
others(16): Show 
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0046g0046
a0001c0013t0009g0339
 20 HG01109.hp2
HG01952.hp1
HG02055.hp2
others(17): Show 
HG01109.hp2
HG01952.hp1
HG02055.hp2
HG02280.hp1
HG02486.hp1
HG02615.hp1
HG02717.hp2
HG02886.hp1
HG02895.hp1
HG02897.hp1
HG02970.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03453.hp1
NA18957.hp1
NA18980.hp1
NA19012.hp2
NA19240.hp1
 intron_variant MODIFIER c.1586+494G>A
c.1586+494G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 10/17 chr19 11114256
chr19:11114343 G
G
 A
A
 2 a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0025g0022
a0001c0003t0025g0135
 2 HG03130.hp2
HG06807.hp1
HG03130.hp2
HG06807.hp1
 intron_variant MODIFIER c.1586+581G>A
c.1586+581G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 10/17 chr19 11114343
chr19:11114478 G
G
 A
A
 21 a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
others(18): Show 
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0046g0046
a0001c0006t0005g0052
a0001c0013t0009g0339
a0006c0024t0019g0346
 22 HG01109.hp2
HG01952.hp1
HG02055.hp2
others(19): Show 
HG01109.hp2
HG01952.hp1
HG02055.hp2
HG02280.hp1
HG02486.hp1
HG02615.hp1
HG02630.hp1
HG02717.hp2
HG02886.hp1
HG02895.hp1
HG02897.hp1
HG02970.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03453.hp1
HG03579.hp2
NA18957.hp1
NA18980.hp1
NA19012.hp2
NA19240.hp1
 intron_variant MODIFIER c.1586+716G>A
c.1586+716G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 10/17 chr19 11114478
chr19:11114669 C
C
 G
G
 25 a0001c0015t0002g0049
a0001c0015t0002g0055
a0002c0005t0002g0012
others(22): Show 
a0001c0015t0002g0049
a0001c0015t0002g0055
a0002c0005t0002g0012
a0002c0005t0002g0028
a0002c0005t0002g0034
a0002c0005t0002g0039
a0002c0005t0002g0057
a0002c0005t0002g0074
a0002c0005t0002g0155
a0002c0005t0002g0197
a0002c0005t0002g0198
a0002c0005t0002g0263
a0002c0005t0002g0286
a0002c0005t0002g0317
a0002c0005t0002g0340
a0002c0005t0002g0341
a0002c0005t0002g0342
a0002c0005t0002g0343
a0002c0005t0002g0344
a0002c0005t0002g0345
a0002c0005t0002g0347
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
a0002c0025t0002g0056
 25 HG00738.hp2
HG01069.hp1
HG01071.hp2
others(22): Show 
HG00738.hp2
HG01069.hp1
HG01071.hp2
HG01255.hp2
HG01358.hp1
HG01516.hp2
HG01517.hp1
HG01934.hp1
HG02145.hp2
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02717.hp1
HG02818.hp1
HG02886.hp2
HG03041.hp1
HG03471.hp2
HG03516.hp2
NA18522.hp2
NA18906.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.1586+907C>G
c.1586+907C>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 10/17 chr19 11114669
chr19:11114716 G
G
 A
A
 22 a0001c0003t0026g0237
a0001c0004t0006g0145
a0001c0004t0009g0003
others(19): Show 
a0001c0003t0026g0237
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0046g0046
a0001c0006t0005g0052
a0001c0013t0009g0339
a0006c0024t0019g0346
 23 HG00408.hp1
HG01109.hp2
HG01952.hp1
others(20): Show 
HG00408.hp1
HG01109.hp2
HG01952.hp1
HG02055.hp2
HG02280.hp1
HG02486.hp1
HG02615.hp1
HG02630.hp1
HG02717.hp2
HG02886.hp1
HG02895.hp1
HG02897.hp1
HG02970.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03453.hp1
HG03579.hp2
NA18957.hp1
NA18980.hp1
NA19012.hp2
NA19240.hp1
 intron_variant MODIFIER c.1586+954G>A
c.1586+954G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 10/17 chr19 11114716
chr19:11114807 C
C
 T
T
 2 a0001c0006t0005g0052
a0006c0024t0019g0346
a0001c0006t0005g0052
a0006c0024t0019g0346
 2 HG02630.hp1
HG03579.hp2
HG02630.hp1
HG03579.hp2
 intron_variant MODIFIER c.1586+1045C>T
c.1586+1045C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 10/17 chr19 11114807
chr19:11114839 G
G
 T
T
 68 a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
others(65): Show 
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0020t0056g0264
 71 HG00099.hp2
HG00423.hp1
HG00438.hp2
others(68): Show 
HG00099.hp2
HG00423.hp1
HG00438.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02055.hp1
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02148.hp2
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02965.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18948.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18961.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18992.hp1
NA18995.hp2
NA19001.hp1
NA19001.hp2
NA19009.hp2
NA19056.hp1
NA19065.hp1
NA19066.hp1
NA19070.hp2
NA19085.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1586+1077G>T
c.1586+1077G>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 10/17 chr19 11114839
chr19:11114855 G
G
 A
A
 1 a0001c0004t0038g0036
a0001c0004t0038g0036
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.1586+1093G>A
c.1586+1093G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 10/17 chr19 11114855
chr19:11114876 C
C
 T
T
 5 a0001c0004t0004g0067
a0001c0004t0004g0281
a0001c0004t0004g0282
others(2): Show 
a0001c0004t0004g0067
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0036g0033
 5 HG01891.hp1
HG02257.hp1
HG02647.hp2
others(2): Show 
HG01891.hp1
HG02257.hp1
HG02647.hp2
HG02896.hp2
NA18522.hp1
 intron_variant MODIFIER c.1586+1114C>T
c.1586+1114C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 10/17 chr19 11114876
chr19:11114877 G
G
 A
A
 4 a0001c0001t0007g0134
a0001c0001t0007g0273
a0001c0001t0012g0136
others(1): Show 
a0001c0001t0007g0134
a0001c0001t0007g0273
a0001c0001t0012g0136
a0005c0019t0007g0133
 4 NA18945.hp2
NA18969.hp2
NA18975.hp1
others(1): Show 
NA18945.hp2
NA18969.hp2
NA18975.hp1
NA18998.hp2
 intron_variant MODIFIER c.1586+1115G>A
c.1586+1115G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 10/17 chr19 11114877
chr19:11114944 T
T
 A
A
 1 a0002c0005t0002g0155
a0002c0005t0002g0155
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.1587-1150T>A
c.1587-1150T>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 10/17 chr19 11114944
chr19:11115150 C
C
 T
T
 3 a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
 3 NA18957.hp1
NA18980.hp1
NA19012.hp2
NA18957.hp1
NA18980.hp1
NA19012.hp2
 intron_variant MODIFIER c.1587-944C>T
c.1587-944C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 10/17 chr19 11115150
chr19:11115315 G
G
 T
T
 1 a0002c0005t0002g0034
a0002c0005t0002g0034
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1587-779G>T
c.1587-779G>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 10/17 chr19 11115315
chr19:11115500 G
G
 A
A
 1 a0001c0001t0032g0216
a0001c0001t0032g0216
 1 HG02273.hp2
HG02273.hp2
 intron_variant MODIFIER c.1587-594G>A
c.1587-594G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 10/17 chr19 11115500
chr19:11115568 G
G
 A
A
 5 a0001c0004t0004g0067
a0001c0004t0004g0281
a0001c0004t0004g0282
others(2): Show 
a0001c0004t0004g0067
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0036g0033
 5 HG01891.hp1
HG02257.hp1
HG02647.hp2
others(2): Show 
HG01891.hp1
HG02257.hp1
HG02647.hp2
HG02896.hp2
NA18522.hp1
 intron_variant MODIFIER c.1587-526G>A
c.1587-526G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 10/17 chr19 11115568
chr19:11115581 C
C
 T
T
 6 a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
others(3): Show 
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0006g0031
a0001c0003t0055g0320
a0001c0027t0003g0275
 6 HG02486.hp2
HG02896.hp1
HG02897.hp2
others(3): Show 
HG02486.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03130.hp1
HG03225.hp2
 intron_variant MODIFIER c.1587-513C>T
c.1587-513C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 10/17 chr19 11115581
chr19:11115646 G
G
 C
C
 1 a0001c0001t0005g0179
a0001c0001t0005g0179
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.1587-448G>C
c.1587-448G>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 10/17 chr19 11115646
chr19:11115706 A
A
 G
G
 1 a0001c0001t0007g0171
a0001c0001t0007g0171
 1 NA19070.hp1
NA19070.hp1
 intron_variant MODIFIER c.1587-388A>G
c.1587-388A>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 10/17 chr19 11115706
chr19:11115867 A
A
 G
G
 66 a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
others(63): Show 
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0004t0005g0238
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0020t0056g0264
 69 HG00099.hp2
HG00423.hp1
HG00438.hp2
others(66): Show 
HG00099.hp2
HG00423.hp1
HG00438.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02004.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02148.hp2
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18948.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18961.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18992.hp1
NA18995.hp2
NA19001.hp1
NA19001.hp2
NA19009.hp2
NA19056.hp1
NA19065.hp1
NA19066.hp1
NA19070.hp2
NA19085.hp2
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1587-227A>G
c.1587-227A>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 10/17 chr19 11115867
chr19:11115925 CA
CA
 C
C
 230 a0001c0001t0001g0297
a0001c0001t0005g0007
a0001c0001t0005g0102
others(227): Show 
a0001c0001t0001g0297
a0001c0001t0005g0007
a0001c0001t0005g0102
a0001c0001t0005g0184
a0001c0001t0005g0192
a0001c0001t0005g0249
a0001c0001t0005g0258
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0078
a0001c0001t0007g0079
a0001c0001t0007g0101
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0134
a0001c0001t0007g0157
a0001c0001t0007g0171
a0001c0001t0007g0176
a0001c0001t0007g0251
a0001c0001t0007g0262
a0001c0001t0007g0273
a0001c0001t0007g0303
a0001c0001t0007g0304
a0001c0001t0007g0306
a0001c0001t0007g0307
a0001c0001t0007g0308
a0001c0001t0007g0310
a0001c0001t0010g0072
a0001c0001t0010g0244
a0001c0001t0010g0245
a0001c0001t0010g0248
a0001c0001t0010g0259
a0001c0001t0010g0265
a0001c0001t0011g0073
a0001c0001t0011g0156
a0001c0001t0011g0242
a0001c0001t0011g0246
a0001c0001t0011g0254
a0001c0001t0012g0158
a0001c0001t0012g0161
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0013g0319
a0001c0001t0015g0298
a0001c0001t0016g0104
a0001c0001t0016g0108
a0001c0001t0021g0267
a0001c0001t0022g0243
a0001c0001t0023g0051
a0001c0001t0028g0107
a0001c0001t0030g0159
a0001c0001t0031g0333
a0001c0001t0032g0216
a0001c0001t0033g0182
a0001c0001t0034g0185
a0001c0001t0035g0020
a0001c0001t0037g0166
a0001c0002t0001g0130
a0001c0002t0001g0226
a0001c0002t0001g0257
a0001c0002t0001g0299
a0001c0002t0001g0316
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0003g0021
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0122
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0203
a0001c0003t0003g0205
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0023g0149
a0001c0003t0025g0135
a0001c0003t0026g0237
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0001g0095
a0001c0004t0003g0014
a0001c0004t0003g0063
a0001c0004t0004g0048
a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0004g0285
a0001c0004t0005g0042
a0001c0004t0005g0238
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0284
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0036g0033
a0001c0004t0038g0036
a0001c0004t0046g0046
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0007t0001g0165
a0001c0007t0001g0180
a0001c0007t0001g0181
a0001c0007t0001g0224
a0001c0007t0002g0170
a0001c0007t0002g0173
a0001c0007t0002g0189
a0001c0007t0002g0191
a0001c0007t0002g0199
a0001c0007t0002g0271
a0001c0007t0002g0301
a0001c0007t0020g0035
a0001c0007t0020g0318
a0001c0007t0020g0321
a0001c0007t0041g0193
a0001c0008t0008g0002
a0001c0008t0008g0013
a0001c0008t0008g0019
a0001c0008t0008g0029
a0001c0008t0008g0065
a0001c0008t0008g0174
a0001c0008t0008g0175
a0001c0008t0008g0178
a0001c0008t0008g0183
a0001c0008t0008g0194
a0001c0008t0008g0214
a0001c0008t0008g0215
a0001c0008t0008g0296
a0001c0008t0047g0190
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0013t0009g0339
a0001c0015t0002g0049
a0001c0015t0002g0055
a0001c0016t0001g0082
a0001c0018t0024g0047
a0001c0018t0024g0322
a0001c0021t0008g0287
a0001c0022t0005g0084
a0001c0023t0003g0291
a0001c0026t0008g0348
a0001c0027t0003g0275
a0002c0005t0002g0009
a0002c0005t0002g0012
a0002c0005t0002g0028
a0002c0005t0002g0034
a0002c0005t0002g0057
a0002c0005t0002g0074
a0002c0005t0002g0155
a0002c0005t0002g0197
a0002c0005t0002g0198
a0002c0005t0002g0263
a0002c0005t0002g0286
a0002c0005t0002g0317
a0002c0005t0002g0340
a0002c0005t0002g0341
a0002c0005t0002g0342
a0002c0005t0002g0343
a0002c0005t0002g0344
a0002c0005t0002g0345
a0002c0005t0002g0347
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
a0002c0025t0002g0056
a0003c0011t0006g0328
a0003c0011t0006g0336
a0004c0014t0004g0113
a0005c0019t0007g0133
a0006c0024t0019g0346
 236 HG00099.hp1
HG00408.hp1
HG00423.hp1
others(233): Show 
HG00099.hp1
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01255.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01952.hp1
HG01975.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18961.hp2
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18975.hp2
NA18979.hp2
NA18980.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18993.hp2
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19058.hp1
NA19058.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1587-151delA
c.1587-151delA
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 10/17 INFO_REALIGN_3_PRIME chr19 11115925
chr19:11115925 CAA
CAA
 C
C
 60 a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
others(57): Show 
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0006g0043
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0016t0001g0081
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0020t0056g0264
 63 HG00099.hp2
HG00438.hp2
HG00642.hp1
others(60): Show 
HG00099.hp2
HG00438.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG01071.hp1
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02148.hp2
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02965.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18961.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18992.hp1
NA18995.hp2
NA19001.hp1
NA19001.hp2
NA19009.hp2
NA19056.hp1
NA19065.hp1
NA19066.hp1
NA19070.hp2
NA19085.hp2
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1587-152_1587-151d
others(4): Show 
c.1587-152_1587-151delAA
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 10/17 INFO_REALIGN_3_PRIME chr19 11115925
chr19:11116228 A
A
 G
G
 1 a0001c0004t0005g0042
a0001c0004t0005g0042
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.1705+16A>G
c.1705+16A>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 11/17 chr19 11116228
chr19:11116268 C
C
 T
T
 113 a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
others(110): Show 
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0026g0237
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0001g0095
a0001c0004t0003g0063
a0001c0004t0004g0048
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0007t0020g0035
a0001c0007t0020g0318
a0001c0007t0020g0321
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0015t0002g0049
a0001c0015t0002g0055
a0001c0018t0024g0047
a0001c0018t0024g0322
a0001c0021t0008g0287
a0001c0022t0005g0084
a0001c0023t0003g0291
a0001c0027t0003g0275
a0002c0005t0002g0009
a0002c0005t0002g0012
a0002c0005t0002g0028
a0002c0005t0002g0034
a0002c0005t0002g0039
a0002c0005t0002g0057
a0002c0005t0002g0074
a0002c0005t0002g0155
a0002c0005t0002g0197
a0002c0005t0002g0198
a0002c0005t0002g0263
a0002c0005t0002g0286
a0002c0005t0002g0317
a0002c0005t0002g0340
a0002c0005t0002g0341
a0002c0005t0002g0342
a0002c0005t0002g0343
a0002c0005t0002g0344
a0002c0005t0002g0345
a0002c0005t0002g0347
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
a0002c0025t0002g0056
a0004c0014t0004g0112
a0004c0014t0004g0113
 115 HG00408.hp1
HG00408.hp2
HG00423.hp2
others(112): Show 
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00738.hp2
HG01069.hp1
HG01071.hp2
HG01255.hp2
HG01358.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01981.hp1
HG02015.hp1
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02129.hp2
HG02145.hp2
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03688.hp2
HG03942.hp1
HG06807.hp1
NA18522.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18964.hp2
NA18967.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18975.hp2
NA18979.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18993.hp1
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19043.hp1
NA19056.hp2
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19080.hp2
NA19083.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.1705+56C>T
c.1705+56C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 11/17 chr19 11116268
chr19:11116269 G
G
 T
T
 1 a0001c0004t0004g0099
a0001c0004t0004g0099
 1 NA19067.hp1
NA19067.hp1
 intron_variant MODIFIER c.1705+57G>T
c.1705+57G>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 11/17 chr19 11116269
chr19:11116394 C
C
 T
T
 211 a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
others(208): Show 
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0026g0237
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0001g0095
a0001c0004t0003g0063
a0001c0004t0004g0048
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0006t0005g0052
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0266
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0007t0020g0035
a0001c0007t0020g0318
a0001c0007t0020g0321
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0015t0002g0049
a0001c0015t0002g0055
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0018t0024g0047
a0001c0018t0024g0322
a0001c0020t0056g0264
a0001c0021t0008g0287
a0001c0022t0005g0084
a0001c0023t0003g0291
a0001c0027t0003g0275
a0002c0005t0002g0009
a0002c0005t0002g0012
a0002c0005t0002g0028
a0002c0005t0002g0034
a0002c0005t0002g0039
a0002c0005t0002g0057
a0002c0005t0002g0074
a0002c0005t0002g0155
a0002c0005t0002g0197
a0002c0005t0002g0198
a0002c0005t0002g0263
a0002c0005t0002g0286
a0002c0005t0002g0317
a0002c0005t0002g0340
a0002c0005t0002g0341
a0002c0005t0002g0342
a0002c0005t0002g0343
a0002c0005t0002g0344
a0002c0005t0002g0345
a0002c0005t0002g0347
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
a0002c0025t0002g0056
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
a0004c0014t0004g0112
a0004c0014t0004g0113
a0006c0024t0019g0346
 216 HG00099.hp2
HG00408.hp1
HG00408.hp2
others(213): Show 
HG00099.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp1
HG01358.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG02004.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18957.hp1
NA18961.hp1
NA18962.hp1
NA18964.hp2
NA18966.hp1
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18975.hp2
NA18979.hp1
NA18980.hp1
NA18983.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18992.hp1
NA18993.hp1
NA18995.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19070.hp2
NA19074.hp1
NA19079.hp2
NA19080.hp2
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1705+182C>T
c.1705+182C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 11/17 chr19 11116394
chr19:11116421 C
C
 T
T
 114 a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
others(111): Show 
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0026g0237
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0001g0095
a0001c0004t0003g0063
a0001c0004t0004g0048
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0007t0020g0035
a0001c0007t0020g0318
a0001c0007t0020g0321
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0015t0002g0049
a0001c0015t0002g0055
a0001c0018t0024g0047
a0001c0018t0024g0322
a0001c0021t0008g0287
a0001c0022t0005g0084
a0001c0023t0003g0291
a0001c0027t0003g0275
a0002c0005t0002g0009
a0002c0005t0002g0012
a0002c0005t0002g0028
a0002c0005t0002g0034
a0002c0005t0002g0039
a0002c0005t0002g0057
a0002c0005t0002g0074
a0002c0005t0002g0155
a0002c0005t0002g0197
a0002c0005t0002g0198
a0002c0005t0002g0263
a0002c0005t0002g0286
a0002c0005t0002g0317
a0002c0005t0002g0340
a0002c0005t0002g0341
a0002c0005t0002g0342
a0002c0005t0002g0343
a0002c0005t0002g0344
a0002c0005t0002g0345
a0002c0005t0002g0347
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
a0002c0025t0002g0056
a0004c0014t0004g0112
a0004c0014t0004g0113
 116 HG00408.hp1
HG00408.hp2
HG00423.hp2
others(113): Show 
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00738.hp2
HG01069.hp1
HG01071.hp2
HG01255.hp2
HG01358.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01981.hp1
HG02015.hp1
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02129.hp2
HG02145.hp2
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03688.hp2
HG03942.hp1
HG06807.hp1
NA18522.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18964.hp2
NA18967.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18975.hp2
NA18979.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18993.hp1
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19043.hp1
NA19056.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19074.hp1
NA19080.hp2
NA19083.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.1705+209C>T
c.1705+209C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 11/17 chr19 11116421
chr19:11116616 G
G
 A
A
 26 a0001c0015t0002g0049
a0001c0015t0002g0055
a0002c0005t0002g0009
others(23): Show 
a0001c0015t0002g0049
a0001c0015t0002g0055
a0002c0005t0002g0009
a0002c0005t0002g0012
a0002c0005t0002g0028
a0002c0005t0002g0034
a0002c0005t0002g0039
a0002c0005t0002g0057
a0002c0005t0002g0074
a0002c0005t0002g0155
a0002c0005t0002g0197
a0002c0005t0002g0198
a0002c0005t0002g0263
a0002c0005t0002g0286
a0002c0005t0002g0317
a0002c0005t0002g0340
a0002c0005t0002g0341
a0002c0005t0002g0342
a0002c0005t0002g0343
a0002c0005t0002g0344
a0002c0005t0002g0345
a0002c0005t0002g0347
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
a0002c0025t0002g0056
 26 HG00738.hp2
HG01069.hp1
HG01071.hp2
others(23): Show 
HG00738.hp2
HG01069.hp1
HG01071.hp2
HG01255.hp2
HG01358.hp1
HG01516.hp2
HG01517.hp1
HG01934.hp1
HG02145.hp2
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02717.hp1
HG02818.hp1
HG02886.hp2
HG03041.hp1
HG03453.hp2
HG03471.hp2
HG03516.hp2
NA18522.hp2
NA18906.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.1706-243G>A
c.1706-243G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 11/17 chr19 11116616
chr19:11116650 C
C
 G
G
 68 a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
others(65): Show 
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0020t0056g0264
 71 HG00099.hp2
HG00423.hp1
HG00438.hp2
others(68): Show 
HG00099.hp2
HG00423.hp1
HG00438.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02055.hp1
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02148.hp2
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02965.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18948.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18961.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18992.hp1
NA18995.hp2
NA19001.hp1
NA19001.hp2
NA19009.hp2
NA19056.hp1
NA19065.hp1
NA19066.hp1
NA19070.hp2
NA19085.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1706-209C>G
c.1706-209C>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 11/17 chr19 11116650
chr19:11116778 C
C
 T
T
 3 a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0004t0003g0014
a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0004t0003g0014
 4 HG02145.hp1
HG02559.hp2
HG02630.hp2
others(1): Show 
HG02145.hp1
HG02559.hp2
HG02630.hp2
HG03041.hp2
 intron_variant MODIFIER c.1706-81C>T
c.1706-81C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 11/17 chr19 11116778
chr19:11116790 G
G
 T
T
 111 a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
others(108): Show 
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0026g0237
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0001g0095
a0001c0004t0003g0063
a0001c0004t0004g0048
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0015t0002g0049
a0001c0015t0002g0055
a0001c0018t0024g0047
a0001c0018t0024g0322
a0001c0021t0008g0287
a0001c0022t0005g0084
a0001c0023t0003g0291
a0001c0027t0003g0275
a0002c0005t0002g0009
a0002c0005t0002g0012
a0002c0005t0002g0028
a0002c0005t0002g0034
a0002c0005t0002g0039
a0002c0005t0002g0057
a0002c0005t0002g0074
a0002c0005t0002g0155
a0002c0005t0002g0197
a0002c0005t0002g0198
a0002c0005t0002g0263
a0002c0005t0002g0286
a0002c0005t0002g0317
a0002c0005t0002g0340
a0002c0005t0002g0341
a0002c0005t0002g0342
a0002c0005t0002g0343
a0002c0005t0002g0344
a0002c0005t0002g0345
a0002c0005t0002g0347
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
a0002c0025t0002g0056
a0004c0014t0004g0112
a0004c0014t0004g0113
 113 HG00408.hp1
HG00408.hp2
HG00423.hp2
others(110): Show 
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00738.hp2
HG01069.hp1
HG01071.hp2
HG01255.hp2
HG01358.hp1
HG01516.hp2
HG01517.hp1
HG01891.hp2
HG01934.hp1
HG01981.hp1
HG02015.hp1
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02129.hp2
HG02145.hp2
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03688.hp2
HG03942.hp1
HG06807.hp1
NA18522.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18964.hp2
NA18967.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18975.hp2
NA18979.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18993.hp1
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19056.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19074.hp1
NA19080.hp2
NA19083.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.1706-69G>T
c.1706-69G>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 11/17 chr19 11116790
chr19:11116804 A
A
 C
C
 235 a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0002t0001g0005
others(232): Show 
a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0026g0237
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0001g0095
a0001c0004t0003g0014
a0001c0004t0003g0063
a0001c0004t0004g0048
a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0036g0033
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0004t0046g0046
a0001c0006t0005g0052
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0266
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0007t0020g0035
a0001c0007t0020g0318
a0001c0007t0020g0321
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0013t0009g0339
a0001c0015t0002g0049
a0001c0015t0002g0055
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0018t0024g0047
a0001c0018t0024g0322
a0001c0020t0056g0264
a0001c0021t0008g0287
a0001c0022t0005g0084
a0001c0023t0003g0291
a0001c0027t0003g0275
a0002c0005t0002g0009
a0002c0005t0002g0012
a0002c0005t0002g0028
a0002c0005t0002g0034
a0002c0005t0002g0039
a0002c0005t0002g0057
a0002c0005t0002g0074
a0002c0005t0002g0155
a0002c0005t0002g0197
a0002c0005t0002g0198
a0002c0005t0002g0263
a0002c0005t0002g0286
a0002c0005t0002g0317
a0002c0005t0002g0340
a0002c0005t0002g0341
a0002c0005t0002g0342
a0002c0005t0002g0343
a0002c0005t0002g0344
a0002c0005t0002g0345
a0002c0005t0002g0347
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
a0002c0025t0002g0056
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
a0004c0014t0004g0112
a0004c0014t0004g0113
a0006c0024t0019g0346
 242 HG00099.hp2
HG00408.hp1
HG00408.hp2
others(239): Show 
HG00099.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp1
HG01358.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG02004.hp1
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18957.hp1
NA18961.hp1
NA18962.hp1
NA18964.hp2
NA18966.hp1
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18975.hp2
NA18979.hp1
NA18980.hp1
NA18983.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18992.hp1
NA18993.hp1
NA18995.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19070.hp2
NA19074.hp1
NA19079.hp2
NA19080.hp2
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1706-55A>C
c.1706-55A>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 11/17 chr19 11116804
chr19:11116808 T
T
 C
C
 2 a0001c0001t0007g0069
a0001c0001t0012g0071
a0001c0001t0007g0069
a0001c0001t0012g0071
 2 NA19000.hp2
NA19065.hp2
NA19000.hp2
NA19065.hp2
 intron_variant MODIFIER c.1706-51T>C
c.1706-51T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 11/17 chr19 11116808
chr19:11116849 G
G
 A
A
 1 a0001c0002t0001g0225
a0001c0002t0001g0225
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.1706-10G>A
c.1706-10G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 11/17 chr19 11116849
chr19:11117138 CT
CT
 C
C
 219 a0001c0001t0007g0106
a0001c0001t0007g0306
a0001c0001t0011g0242
others(216): Show 
a0001c0001t0007g0106
a0001c0001t0007g0306
a0001c0001t0011g0242
a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0012g0059
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0026g0064
a0001c0003t0026g0237
a0001c0003t0053g0123
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0001g0095
a0001c0004t0003g0014
a0001c0004t0003g0063
a0001c0004t0004g0048
a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0284
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0036g0033
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0004t0046g0046
a0001c0006t0005g0052
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0266
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0007t0020g0035
a0001c0007t0020g0318
a0001c0007t0020g0321
a0001c0008t0008g0178
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0013t0009g0339
a0001c0015t0002g0049
a0001c0015t0002g0055
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0020t0056g0264
a0001c0021t0008g0287
a0001c0022t0005g0084
a0001c0023t0003g0291
a0001c0027t0003g0275
a0002c0005t0002g0012
a0002c0005t0002g0028
a0002c0005t0002g0034
a0002c0005t0002g0039
a0002c0005t0002g0057
a0002c0005t0002g0074
a0002c0005t0002g0155
a0002c0005t0002g0197
a0002c0005t0002g0198
a0002c0005t0002g0263
a0002c0005t0002g0286
a0002c0005t0002g0317
a0002c0005t0002g0340
a0002c0005t0002g0341
a0002c0005t0002g0342
a0002c0005t0002g0343
a0002c0005t0002g0344
a0002c0005t0002g0345
a0002c0005t0002g0347
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
a0002c0025t0002g0056
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
a0004c0014t0004g0112
a0004c0014t0004g0113
a0006c0024t0019g0346
 226 HG00099.hp2
HG00408.hp1
HG00408.hp2
others(223): Show 
HG00099.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp1
HG01358.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG02004.hp1
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp1
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp2
NA18943.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18961.hp1
NA18962.hp1
NA18962.hp2
NA18964.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18975.hp2
NA18979.hp1
NA18983.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18992.hp1
NA18993.hp1
NA18995.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19043.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19070.hp2
NA19074.hp1
NA19079.hp2
NA19080.hp2
NA19085.hp1
NA19085.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1845+157delT
c.1845+157delT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr19 11117138
chr19:11117138 CTT
CTT
 C
C
 6 a0001c0002t0001g0236
a0001c0003t0003g0203
a0001c0003t0003g0204
others(3): Show 
a0001c0002t0001g0236
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0054g0125
a0001c0006t0006g0330
a0001c0012t0015g0219
 6 HG03704.hp2
NA18941.hp1
NA18942.hp2
others(3): Show 
HG03704.hp2
NA18941.hp1
NA18942.hp2
NA18948.hp1
NA18953.hp2
NA19091.hp2
 intron_variant MODIFIER c.1845+156_1845+157d
others(4): Show 
c.1845+156_1845+157delTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr19 11117138
chr19:11117300 C
C
 T
T
 2 a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0025g0022
a0001c0003t0025g0135
 2 HG03130.hp2
HG06807.hp1
HG03130.hp2
HG06807.hp1
 intron_variant MODIFIER c.1845+302C>T
c.1845+302C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11117300
chr19:11117322 G
G
 C
C
 3 a0001c0007t0020g0035
a0001c0007t0020g0318
a0001c0007t0020g0321
a0001c0007t0020g0035
a0001c0007t0020g0318
a0001c0007t0020g0321
 3 HG01884.hp1
HG02970.hp1
NA19043.hp1
HG01884.hp1
HG02970.hp1
NA19043.hp1
 intron_variant MODIFIER c.1845+324G>C
c.1845+324G>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11117322
chr19:11117330 G
G
 A
A
 1 a0001c0001t0007g0078
a0001c0001t0007g0078
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.1845+332G>A
c.1845+332G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11117330
chr19:11117410 G
G
 A
A
 1 a0001c0004t0004g0278
a0001c0004t0004g0278
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.1845+412G>A
c.1845+412G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11117410
chr19:11117463 C
C
 A
A
 112 a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
others(109): Show 
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0026g0237
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0001g0095
a0001c0004t0003g0063
a0001c0004t0004g0048
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0007t0020g0035
a0001c0007t0020g0318
a0001c0007t0020g0321
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0015t0002g0049
a0001c0015t0002g0055
a0001c0021t0008g0287
a0001c0022t0005g0084
a0001c0023t0003g0291
a0001c0027t0003g0275
a0002c0005t0002g0009
a0002c0005t0002g0012
a0002c0005t0002g0028
a0002c0005t0002g0034
a0002c0005t0002g0039
a0002c0005t0002g0057
a0002c0005t0002g0074
a0002c0005t0002g0155
a0002c0005t0002g0197
a0002c0005t0002g0198
a0002c0005t0002g0263
a0002c0005t0002g0286
a0002c0005t0002g0317
a0002c0005t0002g0340
a0002c0005t0002g0341
a0002c0005t0002g0342
a0002c0005t0002g0343
a0002c0005t0002g0344
a0002c0005t0002g0345
a0002c0005t0002g0347
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
a0002c0025t0002g0056
a0004c0014t0004g0112
a0004c0014t0004g0113
 114 HG00408.hp1
HG00408.hp2
HG00423.hp2
others(111): Show 
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00738.hp2
HG01069.hp1
HG01071.hp2
HG01255.hp2
HG01358.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01981.hp1
HG02015.hp1
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02129.hp2
HG02145.hp2
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02717.hp1
HG02735.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03688.hp2
HG03942.hp1
HG06807.hp1
NA18522.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18964.hp2
NA18967.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18975.hp2
NA18979.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18993.hp1
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19043.hp1
NA19056.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19074.hp1
NA19080.hp2
NA19083.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.1845+465C>A
c.1845+465C>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11117463
chr19:11117466 C
C
 CT
CT
 27 a0001c0002t0001g0228
a0001c0006t0005g0052
a0001c0006t0006g0037
others(24): Show 
a0001c0002t0001g0228
a0001c0006t0005g0052
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0266
a0001c0006t0006g0324
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0018t0024g0047
a0001c0018t0024g0322
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
a0006c0024t0019g0346
 27 HG01106.hp1
HG01167.hp2
HG01169.hp2
others(24): Show 
HG01106.hp1
HG01167.hp2
HG01169.hp2
HG01496.hp2
HG01975.hp1
HG02074.hp1
HG02257.hp2
HG02630.hp1
HG02723.hp1
HG02738.hp1
HG02895.hp2
HG02922.hp2
HG02976.hp2
HG03017.hp2
HG03195.hp2
HG03225.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp2
NA18940.hp1
NA18954.hp2
NA18983.hp1
NA18985.hp1
NA19011.hp2
NA19056.hp1
NA19058.hp1
NA19079.hp2
 intron_variant MODIFIER c.1845+470dupT
c.1845+470dupT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr19 11117466
chr19:11117466 C
C
 CTT
CTT
 60 a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
others(57): Show 
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0012g0059
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0045g0221
a0001c0004t0005g0238
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
 62 HG00423.hp1
HG00438.hp2
HG00642.hp1
others(59): Show 
HG00423.hp1
HG00438.hp2
HG00642.hp1
HG00733.hp2
HG00738.hp1
HG01071.hp1
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp2
HG01358.hp2
HG01975.hp2
HG02004.hp2
HG02055.hp1
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02148.hp2
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02965.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18948.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18961.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18992.hp1
NA18995.hp2
NA19001.hp1
NA19001.hp2
NA19009.hp2
NA19065.hp1
NA19066.hp1
NA19070.hp2
NA19085.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1845+469_1845+470d
others(4): Show 
c.1845+469_1845+470dupTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr19 11117466
chr19:11117469 C
C
 CT
CT
 136 a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0003t0001g0001
others(133): Show 
a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0026g0237
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0001g0095
a0001c0004t0003g0014
a0001c0004t0003g0063
a0001c0004t0004g0048
a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
a0001c0004t0019g0117
a0001c0004t0036g0033
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0004t0046g0046
a0001c0007t0020g0035
a0001c0007t0020g0318
a0001c0007t0020g0321
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0013t0009g0339
a0001c0015t0002g0049
a0001c0015t0002g0055
a0001c0021t0008g0287
a0001c0022t0005g0084
a0001c0023t0003g0291
a0001c0027t0003g0275
a0002c0005t0002g0009
a0002c0005t0002g0012
a0002c0005t0002g0028
a0002c0005t0002g0034
a0002c0005t0002g0039
a0002c0005t0002g0057
a0002c0005t0002g0074
a0002c0005t0002g0155
a0002c0005t0002g0197
a0002c0005t0002g0198
a0002c0005t0002g0263
a0002c0005t0002g0286
a0002c0005t0002g0317
a0002c0005t0002g0340
a0002c0005t0002g0341
a0002c0005t0002g0342
a0002c0005t0002g0343
a0002c0005t0002g0344
a0002c0005t0002g0345
a0002c0005t0002g0347
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
a0002c0025t0002g0056
a0004c0014t0004g0112
a0004c0014t0004g0113
 140 HG00408.hp1
HG00408.hp2
HG00423.hp2
others(137): Show 
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00738.hp2
HG01069.hp1
HG01071.hp2
HG01109.hp2
HG01255.hp2
HG01358.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01981.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03688.hp2
HG03942.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18957.hp1
NA18964.hp2
NA18967.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18975.hp2
NA18979.hp1
NA18980.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18993.hp1
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19056.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19074.hp1
NA19080.hp2
NA19083.hp2
NA19085.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.1845+482dupT
c.1845+482dupT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr19 11117469
chr19:11117469 C
C
 CTT
CTT
 7 a0001c0002t0001g0005
a0001c0002t0001g0213
a0001c0002t0001g0222
others(4): Show 
a0001c0002t0001g0005
a0001c0002t0001g0213
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0227
a0001c0002t0044g0256
a0001c0020t0056g0264
 8 HG00099.hp2
HG00735.hp2
HG01256.hp1
others(5): Show 
HG00099.hp2
HG00735.hp2
HG01256.hp1
HG01257.hp1
HG01928.hp2
HG01934.hp2
HG01952.hp2
HG02004.hp1
 intron_variant MODIFIER c.1845+481_1845+482d
others(4): Show 
c.1845+481_1845+482dupTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr19 11117469
chr19:11117469 C
C
 T
T
 90 a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
others(87): Show 
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0045g0221
a0001c0004t0005g0238
a0001c0006t0005g0052
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0266
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0018t0024g0047
a0001c0018t0024g0322
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
a0006c0024t0019g0346
 92 HG00423.hp1
HG00438.hp2
HG00642.hp1
others(89): Show 
HG00423.hp1
HG00438.hp2
HG00642.hp1
HG00733.hp2
HG00738.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp2
HG01358.hp2
HG01496.hp2
HG01975.hp1
HG01975.hp2
HG02004.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02148.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02630.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03017.hp2
HG03195.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18940.hp1
NA18948.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18961.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18983.hp1
NA18985.hp1
NA18992.hp1
NA18995.hp2
NA19001.hp1
NA19001.hp2
NA19009.hp2
NA19011.hp2
NA19056.hp1
NA19058.hp1
NA19065.hp1
NA19066.hp1
NA19070.hp2
NA19079.hp2
NA19085.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1845+471C>T
c.1845+471C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11117469
chr19:11117483 A
A
 G
G
 109 a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
others(106): Show 
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0026g0237
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0001g0095
a0001c0004t0003g0063
a0001c0004t0004g0048
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0015t0002g0049
a0001c0015t0002g0055
a0001c0021t0008g0287
a0001c0022t0005g0084
a0001c0023t0003g0291
a0001c0027t0003g0275
a0002c0005t0002g0009
a0002c0005t0002g0012
a0002c0005t0002g0028
a0002c0005t0002g0034
a0002c0005t0002g0039
a0002c0005t0002g0057
a0002c0005t0002g0074
a0002c0005t0002g0155
a0002c0005t0002g0197
a0002c0005t0002g0198
a0002c0005t0002g0263
a0002c0005t0002g0286
a0002c0005t0002g0317
a0002c0005t0002g0340
a0002c0005t0002g0341
a0002c0005t0002g0342
a0002c0005t0002g0343
a0002c0005t0002g0344
a0002c0005t0002g0345
a0002c0005t0002g0347
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
a0002c0025t0002g0056
a0004c0014t0004g0112
a0004c0014t0004g0113
 111 HG00408.hp1
HG00408.hp2
HG00423.hp2
others(108): Show 
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00738.hp2
HG01069.hp1
HG01071.hp2
HG01255.hp2
HG01358.hp1
HG01516.hp2
HG01517.hp1
HG01891.hp2
HG01934.hp1
HG01981.hp1
HG02015.hp1
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02129.hp2
HG02145.hp2
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02717.hp1
HG02735.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03688.hp2
HG03942.hp1
HG06807.hp1
NA18522.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18964.hp2
NA18967.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18975.hp2
NA18979.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18993.hp1
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19056.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19074.hp1
NA19080.hp2
NA19083.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.1845+485A>G
c.1845+485A>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11117483
chr19:11117512 C
C
 G
G
 27 a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0004t0003g0014
others(24): Show 
a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0004t0003g0014
a0001c0004t0004g0067
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0036g0033
a0001c0004t0046g0046
a0001c0013t0009g0339
 29 HG01109.hp2
HG01891.hp1
HG01952.hp1
others(26): Show 
HG01109.hp2
HG01891.hp1
HG01952.hp1
HG02055.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02886.hp1
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03453.hp1
NA18522.hp1
NA18957.hp1
NA18980.hp1
NA19012.hp2
NA19240.hp1
 intron_variant MODIFIER c.1845+514C>G
c.1845+514C>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11117512
chr19:11117640 A
A
 AT
AT
 79 a0001c0001t0005g0102
a0001c0002t0001g0005
a0001c0002t0001g0006
others(76): Show 
a0001c0001t0005g0102
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0012g0059
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0003t0003g0115
a0001c0004t0005g0238
a0001c0004t0006g0145
a0001c0006t0006g0324
a0001c0008t0008g0167
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0020t0056g0264
a0002c0005t0002g0039
a0002c0005t0002g0074
a0002c0005t0002g0155
a0002c0005t0002g0197
a0002c0005t0002g0198
a0002c0005t0002g0286
a0002c0005t0002g0317
 82 HG00099.hp2
HG00423.hp1
HG00438.hp2
others(79): Show 
HG00099.hp2
HG00423.hp1
HG00438.hp2
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01106.hp2
HG01109.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp2
HG02148.hp2
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02965.hp1
HG03041.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp2
HG03490.hp2
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18948.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18961.hp1
NA18962.hp1
NA18966.hp1
NA18967.hp1
NA18968.hp1
NA18992.hp1
NA18995.hp2
NA19001.hp2
NA19009.hp2
NA19056.hp1
NA19065.hp1
NA19066.hp1
NA19070.hp2
NA19085.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1845+656dupT
c.1845+656dupT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr19 11117640
chr19:11117640 A
A
 ATT
ATT
 28 a0001c0002t0014g0207
a0001c0006t0005g0052
a0001c0006t0006g0037
others(25): Show 
a0001c0002t0014g0207
a0001c0006t0005g0052
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0309
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0012t0001g0209
a0001c0018t0024g0047
a0001c0018t0024g0322
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
a0006c0024t0019g0346
 28 HG01081.hp1
HG01106.hp1
HG01167.hp2
others(25): Show 
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01496.hp2
HG01975.hp1
HG02074.hp1
HG02257.hp2
HG02630.hp1
HG02723.hp1
HG02738.hp1
HG02895.hp2
HG02922.hp2
HG02976.hp2
HG03017.hp2
HG03225.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG04115.hp2
NA18940.hp1
NA18954.hp2
NA18973.hp1
NA18983.hp1
NA18985.hp1
NA19001.hp1
NA19011.hp2
NA19058.hp1
NA19079.hp2
 intron_variant MODIFIER c.1845+655_1845+656d
others(4): Show 
c.1845+655_1845+656dupTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr19 11117640
chr19:11117836 G
G
 A
A
 96 a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
others(93): Show 
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0006t0005g0052
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0266
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0018t0024g0047
a0001c0018t0024g0322
a0001c0020t0056g0264
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
a0006c0024t0019g0346
 99 HG00099.hp2
HG00423.hp1
HG00438.hp2
others(96): Show 
HG00099.hp2
HG00423.hp1
HG00438.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG02004.hp1
HG02055.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02148.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02630.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03017.hp2
HG03195.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18940.hp1
NA18948.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18961.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18983.hp1
NA18985.hp1
NA18992.hp1
NA18995.hp2
NA19001.hp1
NA19001.hp2
NA19009.hp2
NA19011.hp2
NA19056.hp1
NA19058.hp1
NA19065.hp1
NA19066.hp1
NA19070.hp2
NA19079.hp2
NA19085.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1845+838G>A
c.1845+838G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11117836
chr19:11117929 C
C
 T
T
 26 a0001c0006t0005g0052
a0001c0006t0006g0037
a0001c0006t0006g0038
others(23): Show 
a0001c0006t0005g0052
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0266
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
a0006c0024t0019g0346
 26 HG01081.hp1
HG01106.hp1
HG01167.hp2
others(23): Show 
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01169.hp2
HG01496.hp2
HG01975.hp1
HG02074.hp1
HG02257.hp2
HG02630.hp1
HG02738.hp1
HG02895.hp2
HG02922.hp2
HG02976.hp2
HG03017.hp2
HG03195.hp2
HG03225.hp1
HG03579.hp2
HG03704.hp2
NA18940.hp1
NA18954.hp2
NA18973.hp1
NA18983.hp1
NA18985.hp1
NA19011.hp2
NA19058.hp1
NA19079.hp2
 intron_variant MODIFIER c.1845+931C>T
c.1845+931C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11117929
chr19:11117944 C
C
 CT
CT
 58 a0001c0001t0015g0298
a0001c0001t0016g0108
a0001c0002t0001g0222
others(55): Show 
a0001c0001t0015g0298
a0001c0001t0016g0108
a0001c0002t0001g0222
a0001c0002t0001g0236
a0001c0002t0006g0276
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0026g0237
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0004g0099
a0001c0021t0008g0287
a0001c0022t0005g0084
a0001c0023t0003g0291
 60 HG00408.hp1
HG00423.hp2
HG00544.hp1
others(57): Show 
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG01928.hp2
HG01981.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02486.hp2
HG02602.hp1
HG02809.hp2
HG03130.hp2
HG03516.hp1
HG03540.hp2
HG03688.hp2
HG03942.hp1
HG06807.hp1
NA18939.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp2
NA18979.hp1
NA18986.hp1
NA18986.hp2
NA18989.hp2
NA18990.hp2
NA18993.hp1
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19056.hp2
NA19064.hp2
NA19067.hp1
NA19074.hp1
NA19080.hp2
NA19083.hp2
NA19085.hp1
 intron_variant MODIFIER c.1845+956dupT
c.1845+956dupT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr19 11117944
chr19:11117969 G
G
 A
A
 1 a0001c0003t0005g0148
a0001c0003t0005g0148
 1 NA19083.hp2
NA19083.hp2
 intron_variant MODIFIER c.1845+971G>A
c.1845+971G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11117969
chr19:11118038 C
C
 T
T
 1 a0001c0003t0005g0294
a0001c0003t0005g0294
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.1845+1040C>T
c.1845+1040C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11118038
chr19:11118050 C
C
 G
G
 96 a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
others(93): Show 
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0006t0005g0052
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0266
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0018t0024g0047
a0001c0018t0024g0322
a0001c0020t0056g0264
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
a0006c0024t0019g0346
 99 HG00099.hp2
HG00423.hp1
HG00438.hp2
others(96): Show 
HG00099.hp2
HG00423.hp1
HG00438.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG02004.hp1
HG02055.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02148.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02630.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03017.hp2
HG03195.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18940.hp1
NA18948.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18961.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18983.hp1
NA18985.hp1
NA18992.hp1
NA18995.hp2
NA19001.hp1
NA19001.hp2
NA19009.hp2
NA19011.hp2
NA19056.hp1
NA19058.hp1
NA19065.hp1
NA19066.hp1
NA19070.hp2
NA19079.hp2
NA19085.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1845+1052C>G
c.1845+1052C>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11118050
chr19:11118069 T
T
 C
C
 236 a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0002t0001g0005
others(233): Show 
a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0026g0237
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0001g0095
a0001c0004t0003g0014
a0001c0004t0003g0063
a0001c0004t0004g0048
a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0036g0033
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0004t0046g0046
a0001c0006t0005g0052
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0266
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0007t0002g0173
a0001c0007t0020g0035
a0001c0007t0020g0318
a0001c0007t0020g0321
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0013t0009g0339
a0001c0015t0002g0049
a0001c0015t0002g0055
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0018t0024g0047
a0001c0018t0024g0322
a0001c0020t0056g0264
a0001c0021t0008g0287
a0001c0022t0005g0084
a0001c0023t0003g0291
a0001c0027t0003g0275
a0002c0005t0002g0009
a0002c0005t0002g0012
a0002c0005t0002g0028
a0002c0005t0002g0034
a0002c0005t0002g0039
a0002c0005t0002g0057
a0002c0005t0002g0074
a0002c0005t0002g0155
a0002c0005t0002g0197
a0002c0005t0002g0198
a0002c0005t0002g0263
a0002c0005t0002g0286
a0002c0005t0002g0317
a0002c0005t0002g0340
a0002c0005t0002g0341
a0002c0005t0002g0342
a0002c0005t0002g0343
a0002c0005t0002g0344
a0002c0005t0002g0345
a0002c0005t0002g0347
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
a0002c0025t0002g0056
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
a0004c0014t0004g0112
a0004c0014t0004g0113
a0006c0024t0019g0346
 243 HG00099.hp2
HG00408.hp1
HG00408.hp2
others(240): Show 
HG00099.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp1
HG01358.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG02004.hp1
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18957.hp1
NA18961.hp1
NA18962.hp1
NA18964.hp2
NA18966.hp1
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18975.hp2
NA18979.hp1
NA18980.hp1
NA18983.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18992.hp1
NA18993.hp1
NA18995.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19070.hp2
NA19074.hp1
NA19079.hp2
NA19080.hp2
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1845+1071T>C
c.1845+1071T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11118069
chr19:11118107 C
C
 T
T
 96 a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
others(93): Show 
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0006t0005g0052
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0266
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0018t0024g0047
a0001c0018t0024g0322
a0001c0020t0056g0264
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
a0006c0024t0019g0346
 99 HG00099.hp2
HG00423.hp1
HG00438.hp2
others(96): Show 
HG00099.hp2
HG00423.hp1
HG00438.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG02004.hp1
HG02055.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02148.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02630.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03017.hp2
HG03195.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18940.hp1
NA18948.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18961.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18983.hp1
NA18985.hp1
NA18992.hp1
NA18995.hp2
NA19001.hp1
NA19001.hp2
NA19009.hp2
NA19011.hp2
NA19056.hp1
NA19058.hp1
NA19065.hp1
NA19066.hp1
NA19070.hp2
NA19079.hp2
NA19085.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1845+1109C>T
c.1845+1109C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11118107
chr19:11118171 C
C
 G
G
 1 a0001c0001t0007g0176
a0001c0001t0007g0176
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.1845+1173C>G
c.1845+1173C>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11118171
chr19:11118189 G
G
 A
A
 113 a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
others(110): Show 
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0026g0237
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0001g0095
a0001c0004t0003g0063
a0001c0004t0004g0048
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0007t0002g0173
a0001c0007t0020g0035
a0001c0007t0020g0318
a0001c0007t0020g0321
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0015t0002g0049
a0001c0015t0002g0055
a0001c0021t0008g0287
a0001c0022t0005g0084
a0001c0023t0003g0291
a0001c0027t0003g0275
a0002c0005t0002g0009
a0002c0005t0002g0012
a0002c0005t0002g0028
a0002c0005t0002g0034
a0002c0005t0002g0039
a0002c0005t0002g0057
a0002c0005t0002g0074
a0002c0005t0002g0155
a0002c0005t0002g0197
a0002c0005t0002g0198
a0002c0005t0002g0263
a0002c0005t0002g0286
a0002c0005t0002g0317
a0002c0005t0002g0340
a0002c0005t0002g0341
a0002c0005t0002g0342
a0002c0005t0002g0343
a0002c0005t0002g0344
a0002c0005t0002g0345
a0002c0005t0002g0347
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
a0002c0025t0002g0056
a0004c0014t0004g0112
a0004c0014t0004g0113
 115 HG00408.hp1
HG00408.hp2
HG00423.hp2
others(112): Show 
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00738.hp2
HG01069.hp1
HG01071.hp2
HG01255.hp2
HG01358.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01981.hp1
HG02015.hp1
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02129.hp2
HG02145.hp2
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02717.hp1
HG02735.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03688.hp2
HG03942.hp1
HG06807.hp1
NA18522.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18964.hp2
NA18967.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18975.hp2
NA18979.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18993.hp1
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19043.hp1
NA19056.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19074.hp1
NA19080.hp2
NA19083.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1845+1191G>A
c.1845+1191G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11118189
chr19:11118236 G
G
 A
A
 26 a0001c0006t0005g0052
a0001c0006t0006g0037
a0001c0006t0006g0038
others(23): Show 
a0001c0006t0005g0052
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0266
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
a0006c0024t0019g0346
 26 HG01081.hp1
HG01106.hp1
HG01167.hp2
others(23): Show 
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01169.hp2
HG01496.hp2
HG01975.hp1
HG02074.hp1
HG02257.hp2
HG02630.hp1
HG02738.hp1
HG02895.hp2
HG02922.hp2
HG02976.hp2
HG03017.hp2
HG03195.hp2
HG03225.hp1
HG03579.hp2
HG03704.hp2
NA18940.hp1
NA18954.hp2
NA18973.hp1
NA18983.hp1
NA18985.hp1
NA19011.hp2
NA19058.hp1
NA19079.hp2
 intron_variant MODIFIER c.1845+1238G>A
c.1845+1238G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11118236
chr19:11118289 C
C
 A
A
 96 a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
others(93): Show 
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0006t0005g0052
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0266
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0018t0024g0047
a0001c0018t0024g0322
a0001c0020t0056g0264
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
a0006c0024t0019g0346
 99 HG00099.hp2
HG00423.hp1
HG00438.hp2
others(96): Show 
HG00099.hp2
HG00423.hp1
HG00438.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG02004.hp1
HG02055.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02148.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02630.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03017.hp2
HG03195.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18940.hp1
NA18948.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18961.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18983.hp1
NA18985.hp1
NA18992.hp1
NA18995.hp2
NA19001.hp1
NA19001.hp2
NA19009.hp2
NA19011.hp2
NA19056.hp1
NA19058.hp1
NA19065.hp1
NA19066.hp1
NA19070.hp2
NA19079.hp2
NA19085.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1845+1291C>A
c.1845+1291C>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11118289
chr19:11118358 C
C
 A
A
 1 a0001c0004t0009g0283
a0001c0004t0009g0283
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.1845+1360C>A
c.1845+1360C>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11118358
chr19:11118390 G
G
 A
A
 17 a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
others(14): Show 
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0005g0294
a0001c0003t0058g0293
a0001c0021t0008g0287
a0001c0023t0003g0291
 17 HG00621.hp1
HG02056.hp1
HG02165.hp1
others(14): Show 
HG00621.hp1
HG02056.hp1
HG02165.hp1
HG02602.hp1
HG03688.hp2
NA18939.hp2
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18967.hp1
NA18986.hp1
NA18989.hp2
NA19002.hp2
NA19007.hp2
NA19010.hp1
NA19080.hp2
NA19085.hp1
 intron_variant MODIFIER c.1845+1392G>A
c.1845+1392G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11118390
chr19:11118404 T
T
 C
C
 3 a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
 3 NA18957.hp1
NA18980.hp1
NA19012.hp2
NA18957.hp1
NA18980.hp1
NA19012.hp2
 intron_variant MODIFIER c.1845+1406T>C
c.1845+1406T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11118404
chr19:11118542 A
A
 G
G
 68 a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
others(65): Show 
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0020t0056g0264
 71 HG00099.hp2
HG00423.hp1
HG00438.hp2
others(68): Show 
HG00099.hp2
HG00423.hp1
HG00438.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02055.hp1
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02148.hp2
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02965.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18948.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18961.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18992.hp1
NA18995.hp2
NA19001.hp1
NA19001.hp2
NA19009.hp2
NA19056.hp1
NA19065.hp1
NA19066.hp1
NA19070.hp2
NA19085.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1845+1544A>G
c.1845+1544A>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11118542
chr19:11118551 G
G
 A
A
 8 a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0004t0003g0014
others(5): Show 
a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0004t0003g0014
a0001c0004t0004g0067
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0036g0033
 9 HG01891.hp1
HG02145.hp1
HG02257.hp1
others(6): Show 
HG01891.hp1
HG02145.hp1
HG02257.hp1
HG02559.hp2
HG02630.hp2
HG02647.hp2
HG02896.hp2
HG03041.hp2
NA18522.hp1
 intron_variant MODIFIER c.1846-1541G>A
c.1846-1541G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11118551
chr19:11118808 C
C
 T
T
 1 a0001c0004t0004g0089
a0001c0004t0004g0089
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.1846-1284C>T
c.1846-1284C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11118808
chr19:11118819 C
C
 T
T
 1 a0001c0002t0001g0234
a0001c0002t0001g0234
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.1846-1273C>T
c.1846-1273C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11118819
chr19:11118848 T
T
 C
C
 57 a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
others(54): Show 
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0026g0237
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0021t0008g0287
a0001c0022t0005g0084
a0001c0023t0003g0291
a0001c0027t0003g0275
 59 HG00408.hp1
HG00423.hp2
HG00544.hp1
others(56): Show 
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG01981.hp1
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02486.hp2
HG02602.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp2
HG03516.hp1
HG03540.hp2
HG03688.hp2
HG03942.hp1
HG06807.hp1
NA18939.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18951.hp1
NA18952.hp1
NA18964.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp2
NA18979.hp1
NA18986.hp1
NA18986.hp2
NA18989.hp2
NA18993.hp1
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19056.hp2
NA19064.hp2
NA19074.hp1
NA19080.hp2
NA19083.hp2
NA19085.hp1
 intron_variant MODIFIER c.1846-1244T>C
c.1846-1244T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11118848
chr19:11118853 C
C
 T
T
 1 a0006c0024t0019g0346
a0006c0024t0019g0346
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.1846-1239C>T
c.1846-1239C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11118853
chr19:11118854 G
G
 A
A
 11 a0001c0003t0003g0068
a0001c0003t0003g0116
a0001c0003t0003g0121
others(8): Show 
a0001c0003t0003g0068
a0001c0003t0003g0116
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0154
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0058g0293
a0001c0023t0003g0291
 11 HG02165.hp1
NA18939.hp2
NA18945.hp1
others(8): Show 
HG02165.hp1
NA18939.hp2
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18986.hp1
NA18989.hp2
NA19002.hp2
NA19007.hp2
NA19010.hp1
NA19080.hp2
 intron_variant MODIFIER c.1846-1238G>A
c.1846-1238G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11118854
chr19:11118883 A
A
 G
G
 26 a0001c0006t0005g0052
a0001c0006t0006g0037
a0001c0006t0006g0038
others(23): Show 
a0001c0006t0005g0052
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0266
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
a0006c0024t0019g0346
 26 HG01081.hp1
HG01106.hp1
HG01167.hp2
others(23): Show 
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01169.hp2
HG01496.hp2
HG01975.hp1
HG02074.hp1
HG02257.hp2
HG02630.hp1
HG02738.hp1
HG02895.hp2
HG02922.hp2
HG02976.hp2
HG03017.hp2
HG03195.hp2
HG03225.hp1
HG03579.hp2
HG03704.hp2
NA18940.hp1
NA18954.hp2
NA18973.hp1
NA18983.hp1
NA18985.hp1
NA19011.hp2
NA19058.hp1
NA19079.hp2
 intron_variant MODIFIER c.1846-1209A>G
c.1846-1209A>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11118883
chr19:11118897 C
C
 T
T
 2 a0001c0001t0007g0069
a0001c0001t0012g0071
a0001c0001t0007g0069
a0001c0001t0012g0071
 2 NA19000.hp2
NA19065.hp2
NA19000.hp2
NA19065.hp2
 intron_variant MODIFIER c.1846-1195C>T
c.1846-1195C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11118897
chr19:11118901 T
T
 C
C
 96 a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
others(93): Show 
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0006t0005g0052
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0266
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0018t0024g0047
a0001c0018t0024g0322
a0001c0020t0056g0264
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
a0006c0024t0019g0346
 99 HG00099.hp2
HG00423.hp1
HG00438.hp2
others(96): Show 
HG00099.hp2
HG00423.hp1
HG00438.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG02004.hp1
HG02055.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02148.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02630.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03017.hp2
HG03195.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18940.hp1
NA18948.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18961.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18983.hp1
NA18985.hp1
NA18992.hp1
NA18995.hp2
NA19001.hp1
NA19001.hp2
NA19009.hp2
NA19011.hp2
NA19056.hp1
NA19058.hp1
NA19065.hp1
NA19066.hp1
NA19070.hp2
NA19079.hp2
NA19085.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1846-1191T>C
c.1846-1191T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11118901
chr19:11118909 C
C
 T
T
 1 a0001c0003t0001g0202
a0001c0003t0001g0202
 1 NA18975.hp2
NA18975.hp2
 intron_variant MODIFIER c.1846-1183C>T
c.1846-1183C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11118909
chr19:11118910 A
A
 G
G
 3 a0001c0003t0001g0202
a0001c0008t0008g0019
a0001c0008t0008g0029
a0001c0003t0001g0202
a0001c0008t0008g0019
a0001c0008t0008g0029
 3 HG02451.hp1
NA18975.hp2
NA19043.hp2
HG02451.hp1
NA18975.hp2
NA19043.hp2
 intron_variant MODIFIER c.1846-1182A>G
c.1846-1182A>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11118910
chr19:11118957 C
C
 T
T
 16 a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
others(13): Show 
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0046g0046
a0001c0013t0009g0339
 17 HG01109.hp2
HG01952.hp1
HG02055.hp2
others(14): Show 
HG01109.hp2
HG01952.hp1
HG02055.hp2
HG02280.hp1
HG02486.hp1
HG02615.hp1
HG02717.hp2
HG02886.hp1
HG02895.hp1
HG02897.hp1
HG02970.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03453.hp1
NA19240.hp1
 intron_variant MODIFIER c.1846-1135C>T
c.1846-1135C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11118957
chr19:11118966 G
G
 A
A
 19 a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
others(16): Show 
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0046g0046
a0001c0013t0009g0339
 20 HG01109.hp2
HG01952.hp1
HG02055.hp2
others(17): Show 
HG01109.hp2
HG01952.hp1
HG02055.hp2
HG02280.hp1
HG02486.hp1
HG02615.hp1
HG02717.hp2
HG02886.hp1
HG02895.hp1
HG02897.hp1
HG02970.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03453.hp1
NA18957.hp1
NA18980.hp1
NA19012.hp2
NA19240.hp1
 intron_variant MODIFIER c.1846-1126G>A
c.1846-1126G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11118966
chr19:11119002 C
C
 T
T
 6 a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
others(3): Show 
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0006g0031
a0001c0003t0055g0320
a0001c0027t0003g0275
 6 HG02486.hp2
HG02896.hp1
HG02897.hp2
others(3): Show 
HG02486.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03130.hp1
HG03225.hp2
 intron_variant MODIFIER c.1846-1090C>T
c.1846-1090C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11119002
chr19:11119023 C
C
 A
A
 218 a0001c0001t0001g0297
a0001c0001t0005g0007
a0001c0001t0005g0060
others(215): Show 
a0001c0001t0001g0297
a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
a0001c0001t0005g0162
a0001c0001t0005g0172
a0001c0001t0005g0179
a0001c0001t0005g0184
a0001c0001t0005g0192
a0001c0001t0005g0240
a0001c0001t0005g0249
a0001c0001t0005g0258
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0078
a0001c0001t0007g0079
a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0134
a0001c0001t0007g0157
a0001c0001t0007g0171
a0001c0001t0007g0176
a0001c0001t0007g0250
a0001c0001t0007g0251
a0001c0001t0007g0262
a0001c0001t0007g0273
a0001c0001t0007g0303
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0007g0306
a0001c0001t0007g0307
a0001c0001t0007g0308
a0001c0001t0007g0310
a0001c0001t0010g0072
a0001c0001t0010g0217
a0001c0001t0010g0239
a0001c0001t0010g0244
a0001c0001t0010g0245
a0001c0001t0010g0248
a0001c0001t0010g0259
a0001c0001t0010g0265
a0001c0001t0011g0073
a0001c0001t0011g0156
a0001c0001t0011g0242
a0001c0001t0011g0246
a0001c0001t0011g0254
a0001c0001t0012g0071
a0001c0001t0012g0136
a0001c0001t0012g0158
a0001c0001t0012g0161
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0013g0319
a0001c0001t0015g0298
a0001c0001t0016g0104
a0001c0001t0016g0108
a0001c0001t0016g0109
a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0001t0022g0243
a0001c0001t0023g0051
a0001c0001t0027g0103
a0001c0001t0028g0107
a0001c0001t0029g0132
a0001c0001t0030g0159
a0001c0001t0031g0333
a0001c0001t0032g0216
a0001c0001t0033g0182
a0001c0001t0034g0185
a0001c0001t0035g0020
a0001c0001t0037g0166
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0004t0003g0014
a0001c0004t0004g0067
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0005g0042
a0001c0004t0005g0238
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0036g0033
a0001c0004t0046g0046
a0001c0006t0005g0052
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0266
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0008t0008g0002
a0001c0008t0008g0013
a0001c0008t0008g0019
a0001c0008t0008g0029
a0001c0008t0008g0065
a0001c0008t0008g0167
a0001c0008t0008g0174
a0001c0008t0008g0175
a0001c0008t0008g0178
a0001c0008t0008g0183
a0001c0008t0008g0194
a0001c0008t0008g0214
a0001c0008t0008g0215
a0001c0008t0008g0296
a0001c0008t0047g0190
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0013t0009g0339
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0018t0024g0047
a0001c0018t0024g0322
a0001c0020t0056g0264
a0001c0026t0008g0348
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
a0005c0019t0007g0133
a0006c0024t0019g0346
 226 HG00099.hp2
HG00423.hp1
HG00438.hp2
others(223): Show 
HG00099.hp2
HG00423.hp1
HG00438.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18969.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18980.hp1
NA18980.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18990.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19043.hp2
NA19056.hp1
NA19058.hp1
NA19058.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19083.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1846-1069C>A
c.1846-1069C>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11119023
chr19:11119041 C
C
 CA
CA
 76 a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
others(73): Show 
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0292
a0001c0003t0003g0334
a0001c0003t0005g0137
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0001g0095
a0001c0004t0003g0063
a0001c0004t0004g0048
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0007t0002g0188
a0001c0007t0002g0189
a0001c0007t0002g0271
a0001c0007t0002g0301
a0001c0007t0020g0035
a0001c0007t0020g0318
a0001c0007t0020g0321
a0001c0013t0004g0338
a0001c0021t0008g0287
a0001c0022t0005g0084
a0001c0023t0003g0291
a0001c0027t0003g0275
a0002c0005t0002g0155
a0004c0014t0004g0112
a0004c0014t0004g0113
 78 HG00408.hp2
HG00423.hp2
HG00438.hp1
others(75): Show 
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00621.hp1
HG01884.hp1
HG01891.hp2
HG02015.hp1
HG02056.hp1
HG02056.hp2
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02602.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp2
HG03490.hp1
HG03516.hp1
HG03540.hp2
HG03654.hp2
HG03688.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp2
HG06807.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18971.hp2
NA18975.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18990.hp1
NA18993.hp1
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19005.hp2
NA19007.hp1
NA19012.hp1
NA19043.hp1
NA19056.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19074.hp1
NA19080.hp2
NA19083.hp2
NA19085.hp1
NA20129.hp1
 intron_variant MODIFIER c.1846-1028dupA
c.1846-1028dupA
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr19 11119041
chr19:11119041 C
C
 CAA
CAA
 18 a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0003t0003g0124
others(15): Show 
a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0003t0003g0124
a0001c0003t0003g0272
a0001c0003t0003g0290
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0005g0138
a0001c0003t0005g0142
a0001c0003t0006g0031
a0001c0004t0004g0067
a0001c0004t0004g0093
a0001c0004t0004g0281
a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
a0001c0004t0036g0033
a0001c0013t0004g0041
 19 HG01891.hp1
HG01981.hp1
HG02074.hp2
others(16): Show 
HG01891.hp1
HG01981.hp1
HG02074.hp2
HG02486.hp2
HG02559.hp2
HG02630.hp2
HG02647.hp2
HG03041.hp2
HG03540.hp1
NA18522.hp1
NA18957.hp1
NA18979.hp1
NA18980.hp1
NA18989.hp2
NA19004.hp2
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
 intron_variant MODIFIER c.1846-1029_1846-102
others(6): Show 
c.1846-1029_1846-1028dupAA
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr19 11119041
chr19:11119041 C
C
 CAAA
CAAA
 75 a0001c0001t0001g0297
a0001c0001t0005g0060
a0001c0001t0005g0102
others(72): Show 
a0001c0001t0001g0297
a0001c0001t0005g0060
a0001c0001t0005g0102
a0001c0001t0005g0162
a0001c0001t0005g0172
a0001c0001t0005g0184
a0001c0001t0005g0258
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0078
a0001c0001t0007g0079
a0001c0001t0007g0101
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0134
a0001c0001t0007g0157
a0001c0001t0007g0176
a0001c0001t0007g0250
a0001c0001t0007g0251
a0001c0001t0007g0273
a0001c0001t0007g0303
a0001c0001t0007g0305
a0001c0001t0007g0306
a0001c0001t0007g0307
a0001c0001t0007g0308
a0001c0001t0007g0310
a0001c0001t0010g0072
a0001c0001t0010g0217
a0001c0001t0010g0239
a0001c0001t0010g0244
a0001c0001t0010g0245
a0001c0001t0010g0248
a0001c0001t0010g0259
a0001c0001t0010g0265
a0001c0001t0011g0242
a0001c0001t0011g0246
a0001c0001t0011g0254
a0001c0001t0012g0136
a0001c0001t0012g0158
a0001c0001t0012g0161
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0013g0319
a0001c0001t0022g0243
a0001c0001t0023g0051
a0001c0001t0030g0159
a0001c0001t0031g0333
a0001c0001t0032g0216
a0001c0001t0033g0182
a0001c0001t0034g0185
a0001c0001t0037g0166
a0001c0004t0003g0014
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0005g0042
a0001c0004t0005g0238
a0001c0007t0002g0312
a0001c0008t0008g0002
a0001c0008t0008g0013
a0001c0008t0008g0019
a0001c0008t0008g0029
a0001c0008t0008g0065
a0001c0008t0008g0175
a0001c0008t0008g0178
a0001c0008t0008g0183
a0001c0008t0008g0194
a0001c0008t0008g0214
a0001c0008t0047g0190
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0026t0008g0348
a0005c0019t0007g0133
 77 HG00323.hp2
HG00558.hp2
HG00597.hp2
others(74): Show 
HG00323.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp1
HG01168.hp1
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG02004.hp2
HG02015.hp2
HG02080.hp2
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02451.hp1
HG02523.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02896.hp2
HG03139.hp2
HG03209.hp1
HG03471.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG03834.hp1
HG03942.hp2
HG04204.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18942.hp1
NA18945.hp2
NA18950.hp1
NA18953.hp1
NA18954.hp1
NA18962.hp2
NA18964.hp1
NA18969.hp2
NA18975.hp1
NA18980.hp2
NA18983.hp2
NA18993.hp2
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19009.hp1
NA19043.hp2
NA19065.hp2
NA19066.hp2
NA19074.hp2
NA19079.hp1
NA19088.hp1
NA19088.hp2
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.1846-1030_1846-102
others(7): Show 
c.1846-1030_1846-1028dupAAA
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr19 11119041
chr19:11119041 C
C
 CAAAA
CAAAA
 34 a0001c0001t0005g0007
a0001c0001t0005g0179
a0001c0001t0005g0192
others(31): Show 
a0001c0001t0005g0007
a0001c0001t0005g0179
a0001c0001t0005g0192
a0001c0001t0005g0240
a0001c0001t0005g0249
a0001c0001t0007g0100
a0001c0001t0007g0171
a0001c0001t0007g0262
a0001c0001t0007g0304
a0001c0001t0011g0073
a0001c0001t0011g0156
a0001c0001t0012g0071
a0001c0001t0015g0298
a0001c0001t0016g0108
a0001c0001t0016g0109
a0001c0001t0027g0103
a0001c0001t0028g0107
a0001c0001t0029g0132
a0001c0001t0035g0020
a0001c0004t0009g0003
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0046g0046
a0001c0008t0008g0167
a0001c0008t0008g0174
a0001c0008t0008g0215
a0001c0008t0008g0296
a0001c0013t0009g0339
 36 HG00735.hp1
HG01074.hp1
HG01109.hp2
others(33): Show 
HG00735.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01952.hp1
HG01981.hp2
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02897.hp1
HG03017.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03453.hp1
NA18940.hp2
NA18957.hp2
NA18961.hp2
NA18966.hp2
NA18973.hp2
NA18990.hp2
NA19000.hp2
NA19005.hp1
NA19058.hp2
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19080.hp1
NA19083.hp1
NA19240.hp1
 intron_variant MODIFIER c.1846-1031_1846-102
others(8): Show 
c.1846-1031_1846-1028dupAAAA
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr19 11119041
chr19:11119041 C
C
 CAAAAA
CAAAAA
 6 a0001c0001t0016g0104
a0001c0004t0006g0145
a0001c0004t0009g0010
others(3): Show 
a0001c0001t0016g0104
a0001c0004t0006g0145
a0001c0004t0009g0010
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0284
 6 HG02055.hp2
HG02280.hp1
HG02886.hp1
others(3): Show 
HG02055.hp2
HG02280.hp1
HG02886.hp1
HG02970.hp2
HG03098.hp1
NA19011.hp1
 intron_variant MODIFIER c.1846-1032_1846-102
others(9): Show 
c.1846-1032_1846-1028dupAAAAA
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr19 11119041
chr19:11119041 CA
CA
 C
C
 85 a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
others(82): Show 
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0012g0059
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0006t0005g0052
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0266
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0331
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0020t0056g0264
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
 88 HG00099.hp2
HG00423.hp1
HG00438.hp2
others(85): Show 
HG00099.hp2
HG00423.hp1
HG00438.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp2
HG01169.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp2
HG01496.hp2
HG01934.hp2
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG02004.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02148.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02630.hp1
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03017.hp2
HG03195.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18940.hp1
NA18948.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18961.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18983.hp1
NA18985.hp1
NA18992.hp1
NA18995.hp2
NA19001.hp1
NA19001.hp2
NA19009.hp2
NA19056.hp1
NA19058.hp1
NA19065.hp1
NA19066.hp1
NA19070.hp2
NA19079.hp2
NA19085.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1846-1028delA
c.1846-1028delA
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr19 11119041
chr19:11119056 A
A
 C
C
 2 a0001c0018t0024g0047
a0001c0018t0024g0322
a0001c0018t0024g0047
a0001c0018t0024g0322
 2 HG02723.hp1
HG03579.hp1
HG02723.hp1
HG03579.hp1
 intron_variant MODIFIER c.1846-1036A>C
c.1846-1036A>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11119056
chr19:11119065 T
T
 A
A
 2 a0002c0005t0002g0155
a0002c0005t0002g0317
a0002c0005t0002g0155
a0002c0005t0002g0317
 2 NA18522.hp2
NA18906.hp1
NA18522.hp2
NA18906.hp1
 intron_variant MODIFIER c.1846-1027T>A
c.1846-1027T>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11119065
chr19:11119089 G
G
 A
A
 95 a0001c0001t0001g0297
a0001c0001t0005g0007
a0001c0001t0005g0060
others(92): Show 
a0001c0001t0001g0297
a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
a0001c0001t0005g0162
a0001c0001t0005g0172
a0001c0001t0005g0179
a0001c0001t0005g0184
a0001c0001t0005g0192
a0001c0001t0005g0240
a0001c0001t0005g0249
a0001c0001t0005g0258
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0078
a0001c0001t0007g0079
a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0134
a0001c0001t0007g0157
a0001c0001t0007g0171
a0001c0001t0007g0176
a0001c0001t0007g0250
a0001c0001t0007g0251
a0001c0001t0007g0262
a0001c0001t0007g0273
a0001c0001t0007g0303
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0007g0306
a0001c0001t0007g0307
a0001c0001t0007g0308
a0001c0001t0007g0310
a0001c0001t0010g0072
a0001c0001t0010g0217
a0001c0001t0010g0239
a0001c0001t0010g0244
a0001c0001t0010g0245
a0001c0001t0010g0248
a0001c0001t0010g0259
a0001c0001t0010g0265
a0001c0001t0011g0073
a0001c0001t0011g0156
a0001c0001t0011g0242
a0001c0001t0011g0246
a0001c0001t0011g0254
a0001c0001t0012g0071
a0001c0001t0012g0136
a0001c0001t0012g0158
a0001c0001t0012g0161
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0013g0319
a0001c0001t0015g0298
a0001c0001t0016g0104
a0001c0001t0016g0108
a0001c0001t0016g0109
a0001c0001t0022g0243
a0001c0001t0023g0051
a0001c0001t0027g0103
a0001c0001t0028g0107
a0001c0001t0029g0132
a0001c0001t0030g0159
a0001c0001t0031g0333
a0001c0001t0032g0216
a0001c0001t0033g0182
a0001c0001t0034g0185
a0001c0001t0035g0020
a0001c0001t0037g0166
a0001c0004t0005g0042
a0001c0004t0005g0238
a0001c0008t0008g0002
a0001c0008t0008g0013
a0001c0008t0008g0019
a0001c0008t0008g0029
a0001c0008t0008g0065
a0001c0008t0008g0167
a0001c0008t0008g0174
a0001c0008t0008g0175
a0001c0008t0008g0178
a0001c0008t0008g0183
a0001c0008t0008g0194
a0001c0008t0008g0214
a0001c0008t0008g0215
a0001c0008t0008g0296
a0001c0008t0047g0190
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0026t0008g0348
a0005c0019t0007g0133
 98 HG00558.hp2
HG00597.hp2
HG00621.hp2
others(95): Show 
HG00558.hp2
HG00597.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01981.hp2
HG02004.hp2
HG02015.hp2
HG02080.hp2
HG02155.hp1
HG02258.hp1
HG02273.hp2
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG03017.hp1
HG03139.hp2
HG03209.hp1
HG03471.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG03834.hp1
HG03942.hp2
HG04204.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp2
NA18942.hp1
NA18945.hp2
NA18950.hp1
NA18953.hp1
NA18954.hp1
NA18957.hp2
NA18961.hp2
NA18962.hp2
NA18964.hp1
NA18966.hp2
NA18969.hp2
NA18973.hp2
NA18975.hp1
NA18980.hp2
NA18983.hp2
NA18990.hp2
NA18993.hp2
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19005.hp1
NA19009.hp1
NA19011.hp1
NA19043.hp2
NA19058.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19083.hp1
NA19088.hp1
NA19088.hp2
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.1846-1003G>A
c.1846-1003G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11119089
chr19:11119174 C
C
 G
G
 95 a0001c0001t0001g0297
a0001c0001t0005g0007
a0001c0001t0005g0060
others(92): Show 
a0001c0001t0001g0297
a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
a0001c0001t0005g0162
a0001c0001t0005g0172
a0001c0001t0005g0179
a0001c0001t0005g0184
a0001c0001t0005g0192
a0001c0001t0005g0240
a0001c0001t0005g0249
a0001c0001t0005g0258
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0078
a0001c0001t0007g0079
a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0134
a0001c0001t0007g0157
a0001c0001t0007g0171
a0001c0001t0007g0176
a0001c0001t0007g0250
a0001c0001t0007g0251
a0001c0001t0007g0262
a0001c0001t0007g0273
a0001c0001t0007g0303
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0007g0306
a0001c0001t0007g0307
a0001c0001t0007g0308
a0001c0001t0007g0310
a0001c0001t0010g0072
a0001c0001t0010g0217
a0001c0001t0010g0239
a0001c0001t0010g0244
a0001c0001t0010g0245
a0001c0001t0010g0248
a0001c0001t0010g0259
a0001c0001t0010g0265
a0001c0001t0011g0073
a0001c0001t0011g0156
a0001c0001t0011g0242
a0001c0001t0011g0246
a0001c0001t0011g0254
a0001c0001t0012g0071
a0001c0001t0012g0136
a0001c0001t0012g0158
a0001c0001t0012g0161
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0013g0319
a0001c0001t0015g0298
a0001c0001t0016g0104
a0001c0001t0016g0108
a0001c0001t0016g0109
a0001c0001t0022g0243
a0001c0001t0023g0051
a0001c0001t0027g0103
a0001c0001t0028g0107
a0001c0001t0029g0132
a0001c0001t0030g0159
a0001c0001t0031g0333
a0001c0001t0032g0216
a0001c0001t0033g0182
a0001c0001t0034g0185
a0001c0001t0035g0020
a0001c0001t0037g0166
a0001c0004t0005g0042
a0001c0004t0005g0238
a0001c0008t0008g0002
a0001c0008t0008g0013
a0001c0008t0008g0019
a0001c0008t0008g0029
a0001c0008t0008g0065
a0001c0008t0008g0167
a0001c0008t0008g0174
a0001c0008t0008g0175
a0001c0008t0008g0178
a0001c0008t0008g0183
a0001c0008t0008g0194
a0001c0008t0008g0214
a0001c0008t0008g0215
a0001c0008t0008g0296
a0001c0008t0047g0190
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0026t0008g0348
a0005c0019t0007g0133
 98 HG00558.hp2
HG00597.hp2
HG00621.hp2
others(95): Show 
HG00558.hp2
HG00597.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01981.hp2
HG02004.hp2
HG02015.hp2
HG02080.hp2
HG02155.hp1
HG02258.hp1
HG02273.hp2
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG03017.hp1
HG03139.hp2
HG03209.hp1
HG03471.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG03834.hp1
HG03942.hp2
HG04204.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp2
NA18942.hp1
NA18945.hp2
NA18950.hp1
NA18953.hp1
NA18954.hp1
NA18957.hp2
NA18961.hp2
NA18962.hp2
NA18964.hp1
NA18966.hp2
NA18969.hp2
NA18973.hp2
NA18975.hp1
NA18980.hp2
NA18983.hp2
NA18990.hp2
NA18993.hp2
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19005.hp1
NA19009.hp1
NA19011.hp1
NA19043.hp2
NA19058.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19083.hp1
NA19088.hp1
NA19088.hp2
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.1846-918C>G
c.1846-918C>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11119174
chr19:11119198 C
C
 T
T
 5 a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
others(2): Show 
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0006g0031
a0001c0027t0003g0275
 5 HG02486.hp2
HG02896.hp1
HG02897.hp2
others(2): Show 
HG02486.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03130.hp1
 intron_variant MODIFIER c.1846-894C>T
c.1846-894C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11119198
chr19:11119199 G
G
 A
A
 1 a0001c0001t0010g0248
a0001c0001t0010g0248
 1 HG02015.hp2
HG02015.hp2
 intron_variant MODIFIER c.1846-893G>A
c.1846-893G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11119199
chr19:11119276 C
C
 A
A
 1 a0001c0001t0005g0184
a0001c0001t0005g0184
 1 NA19088.hp1
NA19088.hp1
 intron_variant MODIFIER c.1846-816C>A
c.1846-816C>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11119276
chr19:11119292 C
C
 T
T
 68 a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
others(65): Show 
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0020t0056g0264
 71 HG00099.hp2
HG00423.hp1
HG00438.hp2
others(68): Show 
HG00099.hp2
HG00423.hp1
HG00438.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02055.hp1
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02148.hp2
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02965.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18948.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18961.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18992.hp1
NA18995.hp2
NA19001.hp1
NA19001.hp2
NA19009.hp2
NA19056.hp1
NA19065.hp1
NA19066.hp1
NA19070.hp2
NA19085.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1846-800C>T
c.1846-800C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11119292
chr19:11119299 C
C
 A
A
 1 a0001c0001t0010g0239
a0001c0001t0010g0239
 1 HG01928.hp1
HG01928.hp1
 intron_variant MODIFIER c.1846-793C>A
c.1846-793C>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11119299
chr19:11119304 G
G
 A
A
 1 a0002c0005t0002g0012
a0002c0005t0002g0012
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.1846-788G>A
c.1846-788G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11119304
chr19:11119326 C
C
 T
T
 68 a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
others(65): Show 
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0020t0056g0264
 71 HG00099.hp2
HG00423.hp1
HG00438.hp2
others(68): Show 
HG00099.hp2
HG00423.hp1
HG00438.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02055.hp1
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02148.hp2
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02965.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18948.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18961.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18992.hp1
NA18995.hp2
NA19001.hp1
NA19001.hp2
NA19009.hp2
NA19056.hp1
NA19065.hp1
NA19066.hp1
NA19070.hp2
NA19085.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1846-766C>T
c.1846-766C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11119326
chr19:11119453 G
G
 C
C
 1 a0001c0003t0003g0204
a0001c0003t0003g0204
 1 NA18948.hp1
NA18948.hp1
 intron_variant MODIFIER c.1846-639G>C
c.1846-639G>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11119453
chr19:11119538 T
T
 C
C
 96 a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
others(93): Show 
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0006t0005g0052
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0266
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0018t0024g0047
a0001c0018t0024g0322
a0001c0020t0056g0264
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
a0006c0024t0019g0346
 99 HG00099.hp2
HG00423.hp1
HG00438.hp2
others(96): Show 
HG00099.hp2
HG00423.hp1
HG00438.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG02004.hp1
HG02055.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02148.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02630.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03017.hp2
HG03195.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18940.hp1
NA18948.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18961.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18983.hp1
NA18985.hp1
NA18992.hp1
NA18995.hp2
NA19001.hp1
NA19001.hp2
NA19009.hp2
NA19011.hp2
NA19056.hp1
NA19058.hp1
NA19065.hp1
NA19066.hp1
NA19070.hp2
NA19079.hp2
NA19085.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1846-554T>C
c.1846-554T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11119538
chr19:11119626 C
C
 T
T
 1 a0001c0001t0007g0157
a0001c0001t0007g0157
 1 HG02080.hp2
HG02080.hp2
 intron_variant MODIFIER c.1846-466C>T
c.1846-466C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11119626
chr19:11119652 A
A
 C
C
 1 a0001c0008t0008g0183
a0001c0008t0008g0183
 1 HG01516.hp1
HG01516.hp1
 intron_variant MODIFIER c.1846-440A>C
c.1846-440A>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11119652
chr19:11119656 C
C
 T
T
 42 a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
others(39): Show 
a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
a0001c0001t0005g0162
a0001c0001t0005g0172
a0001c0001t0005g0179
a0001c0001t0005g0184
a0001c0001t0005g0192
a0001c0001t0005g0240
a0001c0001t0005g0249
a0001c0001t0005g0258
a0001c0001t0010g0072
a0001c0001t0010g0217
a0001c0001t0010g0239
a0001c0001t0010g0244
a0001c0001t0010g0245
a0001c0001t0010g0248
a0001c0001t0010g0259
a0001c0001t0010g0265
a0001c0001t0011g0073
a0001c0001t0011g0242
a0001c0001t0011g0246
a0001c0001t0011g0254
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0013g0319
a0001c0001t0022g0243
a0001c0001t0023g0051
a0001c0001t0030g0159
a0001c0001t0031g0333
a0001c0001t0032g0216
a0001c0001t0033g0182
a0001c0001t0034g0185
a0001c0001t0035g0020
a0001c0001t0037g0166
a0001c0004t0005g0042
a0001c0004t0005g0238
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
 43 HG00558.hp2
HG00621.hp2
HG00642.hp2
others(40): Show 
HG00558.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG01069.hp2
HG01074.hp1
HG01099.hp1
HG01168.hp2
HG01169.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG02004.hp2
HG02015.hp2
HG02258.hp1
HG02273.hp2
HG02602.hp2
HG02615.hp2
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG03209.hp1
HG03471.hp1
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04204.hp2
NA18747.hp1
NA18950.hp1
NA18964.hp1
NA18966.hp2
NA19000.hp1
NA19005.hp1
NA19066.hp2
NA19074.hp2
NA19080.hp1
NA19088.hp1
NA20905.hp1
 intron_variant MODIFIER c.1846-436C>T
c.1846-436C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11119656
chr19:11119661 C
C
 CA
CA
 18 a0001c0001t0007g0100
a0001c0001t0007g0157
a0001c0001t0007g0304
others(15): Show 
a0001c0001t0007g0100
a0001c0001t0007g0157
a0001c0001t0007g0304
a0001c0001t0029g0132
a0001c0002t0001g0225
a0001c0002t0014g0207
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0003t0003g0302
a0001c0003t0054g0125
a0001c0003t0059g0129
a0001c0007t0020g0035
a0001c0007t0020g0318
a0001c0007t0020g0321
a0001c0008t0008g0167
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0027t0003g0275
 18 HG00544.hp1
HG01175.hp2
HG01884.hp1
others(15): Show 
HG00544.hp1
HG01175.hp2
HG01884.hp1
HG02080.hp2
HG02738.hp2
HG02970.hp1
HG03098.hp2
HG03669.hp2
HG04115.hp2
NA18940.hp2
NA18941.hp1
NA19001.hp1
NA19001.hp2
NA19010.hp1
NA19043.hp1
NA19058.hp2
NA19067.hp2
NA20805.hp1
 intron_variant MODIFIER c.1846-421dupA
c.1846-421dupA
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr19 11119661
chr19:11119673 C
C
 A
A
 1 a0001c0006t0006g0098
a0001c0006t0006g0098
 1 NA19011.hp2
NA19011.hp2
 intron_variant MODIFIER c.1846-419C>A
c.1846-419C>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11119673
chr19:11119673 C
C
 CA
CA
 26 a0001c0006t0005g0052
a0001c0006t0006g0037
a0001c0006t0006g0038
others(23): Show 
a0001c0006t0005g0052
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0266
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0018t0024g0047
a0001c0018t0024g0322
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
 26 HG01081.hp1
HG01106.hp1
HG01167.hp2
others(23): Show 
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01169.hp2
HG01496.hp2
HG01975.hp1
HG02074.hp1
HG02257.hp2
HG02630.hp1
HG02723.hp1
HG02738.hp1
HG02895.hp2
HG02922.hp2
HG02976.hp2
HG03017.hp2
HG03195.hp2
HG03225.hp1
HG03579.hp1
HG03704.hp2
NA18940.hp1
NA18954.hp2
NA18973.hp1
NA18983.hp1
NA18985.hp1
NA19058.hp1
NA19079.hp2
 intron_variant MODIFIER c.1846-409dupA
c.1846-409dupA
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr19 11119673
chr19:11119686 A
A
 C
C
 122 a0001c0001t0001g0297
a0001c0001t0005g0007
a0001c0001t0005g0060
others(119): Show 
a0001c0001t0001g0297
a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
a0001c0001t0005g0162
a0001c0001t0005g0172
a0001c0001t0005g0179
a0001c0001t0005g0184
a0001c0001t0005g0192
a0001c0001t0005g0240
a0001c0001t0005g0249
a0001c0001t0005g0258
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0078
a0001c0001t0007g0079
a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0134
a0001c0001t0007g0157
a0001c0001t0007g0171
a0001c0001t0007g0176
a0001c0001t0007g0250
a0001c0001t0007g0251
a0001c0001t0007g0262
a0001c0001t0007g0273
a0001c0001t0007g0303
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0007g0306
a0001c0001t0007g0307
a0001c0001t0007g0308
a0001c0001t0007g0310
a0001c0001t0010g0072
a0001c0001t0010g0217
a0001c0001t0010g0239
a0001c0001t0010g0244
a0001c0001t0010g0245
a0001c0001t0010g0248
a0001c0001t0010g0259
a0001c0001t0010g0265
a0001c0001t0011g0073
a0001c0001t0011g0156
a0001c0001t0011g0242
a0001c0001t0011g0246
a0001c0001t0011g0254
a0001c0001t0012g0071
a0001c0001t0012g0136
a0001c0001t0012g0158
a0001c0001t0012g0161
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0013g0319
a0001c0001t0015g0298
a0001c0001t0016g0104
a0001c0001t0016g0108
a0001c0001t0016g0109
a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0001t0022g0243
a0001c0001t0023g0051
a0001c0001t0027g0103
a0001c0001t0028g0107
a0001c0001t0029g0132
a0001c0001t0030g0159
a0001c0001t0031g0333
a0001c0001t0032g0216
a0001c0001t0033g0182
a0001c0001t0034g0185
a0001c0001t0035g0020
a0001c0001t0037g0166
a0001c0004t0003g0014
a0001c0004t0004g0067
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0005g0042
a0001c0004t0005g0238
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0036g0033
a0001c0004t0046g0046
a0001c0008t0008g0002
a0001c0008t0008g0013
a0001c0008t0008g0019
a0001c0008t0008g0029
a0001c0008t0008g0065
a0001c0008t0008g0167
a0001c0008t0008g0174
a0001c0008t0008g0175
a0001c0008t0008g0178
a0001c0008t0008g0183
a0001c0008t0008g0194
a0001c0008t0008g0214
a0001c0008t0008g0215
a0001c0008t0008g0296
a0001c0008t0047g0190
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0013t0009g0339
a0001c0026t0008g0348
a0005c0019t0007g0133
 127 HG00558.hp2
HG00597.hp2
HG00621.hp2
others(124): Show 
HG00558.hp2
HG00597.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01952.hp1
HG01981.hp2
HG02004.hp2
HG02015.hp2
HG02055.hp2
HG02080.hp2
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02280.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02886.hp1
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG03834.hp1
HG03942.hp2
HG04204.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp2
NA18942.hp1
NA18945.hp2
NA18950.hp1
NA18953.hp1
NA18954.hp1
NA18957.hp1
NA18957.hp2
NA18961.hp2
NA18962.hp2
NA18964.hp1
NA18966.hp2
NA18969.hp2
NA18973.hp2
NA18975.hp1
NA18980.hp1
NA18980.hp2
NA18983.hp2
NA18990.hp2
NA18993.hp2
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19005.hp1
NA19009.hp1
NA19011.hp1
NA19012.hp2
NA19043.hp2
NA19058.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19083.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.1846-406A>C
c.1846-406A>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11119686
chr19:11119726 G
G
 T
T
 95 a0001c0001t0001g0297
a0001c0001t0005g0007
a0001c0001t0005g0060
others(92): Show 
a0001c0001t0001g0297
a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
a0001c0001t0005g0162
a0001c0001t0005g0172
a0001c0001t0005g0179
a0001c0001t0005g0184
a0001c0001t0005g0192
a0001c0001t0005g0240
a0001c0001t0005g0249
a0001c0001t0005g0258
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0078
a0001c0001t0007g0079
a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0134
a0001c0001t0007g0157
a0001c0001t0007g0171
a0001c0001t0007g0176
a0001c0001t0007g0250
a0001c0001t0007g0251
a0001c0001t0007g0262
a0001c0001t0007g0273
a0001c0001t0007g0303
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0007g0306
a0001c0001t0007g0307
a0001c0001t0007g0308
a0001c0001t0007g0310
a0001c0001t0010g0072
a0001c0001t0010g0217
a0001c0001t0010g0239
a0001c0001t0010g0244
a0001c0001t0010g0245
a0001c0001t0010g0248
a0001c0001t0010g0259
a0001c0001t0010g0265
a0001c0001t0011g0073
a0001c0001t0011g0156
a0001c0001t0011g0242
a0001c0001t0011g0246
a0001c0001t0011g0254
a0001c0001t0012g0071
a0001c0001t0012g0136
a0001c0001t0012g0158
a0001c0001t0012g0161
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0013g0319
a0001c0001t0015g0298
a0001c0001t0016g0104
a0001c0001t0016g0108
a0001c0001t0016g0109
a0001c0001t0022g0243
a0001c0001t0023g0051
a0001c0001t0027g0103
a0001c0001t0028g0107
a0001c0001t0029g0132
a0001c0001t0030g0159
a0001c0001t0031g0333
a0001c0001t0032g0216
a0001c0001t0033g0182
a0001c0001t0034g0185
a0001c0001t0035g0020
a0001c0001t0037g0166
a0001c0004t0005g0042
a0001c0004t0005g0238
a0001c0008t0008g0002
a0001c0008t0008g0013
a0001c0008t0008g0019
a0001c0008t0008g0029
a0001c0008t0008g0065
a0001c0008t0008g0167
a0001c0008t0008g0174
a0001c0008t0008g0175
a0001c0008t0008g0178
a0001c0008t0008g0183
a0001c0008t0008g0194
a0001c0008t0008g0214
a0001c0008t0008g0215
a0001c0008t0008g0296
a0001c0008t0047g0190
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0026t0008g0348
a0005c0019t0007g0133
 98 HG00558.hp2
HG00597.hp2
HG00621.hp2
others(95): Show 
HG00558.hp2
HG00597.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01981.hp2
HG02004.hp2
HG02015.hp2
HG02080.hp2
HG02155.hp1
HG02258.hp1
HG02273.hp2
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG03017.hp1
HG03139.hp2
HG03209.hp1
HG03471.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG03834.hp1
HG03942.hp2
HG04204.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp2
NA18942.hp1
NA18945.hp2
NA18950.hp1
NA18953.hp1
NA18954.hp1
NA18957.hp2
NA18961.hp2
NA18962.hp2
NA18964.hp1
NA18966.hp2
NA18969.hp2
NA18973.hp2
NA18975.hp1
NA18980.hp2
NA18983.hp2
NA18990.hp2
NA18993.hp2
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19005.hp1
NA19009.hp1
NA19011.hp1
NA19043.hp2
NA19058.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19083.hp1
NA19088.hp1
NA19088.hp2
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.1846-366G>T
c.1846-366G>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11119726
chr19:11119843 G
G
 GCA
GCA
 96 a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
others(93): Show 
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0006t0005g0052
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0266
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0018t0024g0047
a0001c0018t0024g0322
a0001c0020t0056g0264
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
a0006c0024t0019g0346
 99 HG00099.hp2
HG00423.hp1
HG00438.hp2
others(96): Show 
HG00099.hp2
HG00423.hp1
HG00438.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG02004.hp1
HG02055.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02148.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02630.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03017.hp2
HG03195.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18940.hp1
NA18948.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18961.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18983.hp1
NA18985.hp1
NA18992.hp1
NA18995.hp2
NA19001.hp1
NA19001.hp2
NA19009.hp2
NA19011.hp2
NA19056.hp1
NA19058.hp1
NA19065.hp1
NA19066.hp1
NA19070.hp2
NA19079.hp2
NA19085.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1846-245_1846-244d
others(4): Show 
c.1846-245_1846-244dupAC
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr19 11119843
chr19:11119969 T
T
 C
C
 96 a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
others(93): Show 
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0006t0005g0052
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0266
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0018t0024g0047
a0001c0018t0024g0322
a0001c0020t0056g0264
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
a0006c0024t0019g0346
 99 HG00099.hp2
HG00423.hp1
HG00438.hp2
others(96): Show 
HG00099.hp2
HG00423.hp1
HG00438.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG02004.hp1
HG02055.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02148.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02630.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03017.hp2
HG03195.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18940.hp1
NA18948.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18961.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18983.hp1
NA18985.hp1
NA18992.hp1
NA18995.hp2
NA19001.hp1
NA19001.hp2
NA19009.hp2
NA19011.hp2
NA19056.hp1
NA19058.hp1
NA19065.hp1
NA19066.hp1
NA19070.hp2
NA19079.hp2
NA19085.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1846-123T>C
c.1846-123T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11119969
chr19:11119974 G
G
 GAAAC
GAAAC
 8 a0001c0004t0004g0067
a0001c0004t0004g0281
a0001c0004t0004g0282
others(5): Show 
a0001c0004t0004g0067
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0036g0033
a0001c0007t0020g0035
a0001c0007t0020g0318
a0001c0007t0020g0321
 8 HG01884.hp1
HG01891.hp1
HG02257.hp1
others(5): Show 
HG01884.hp1
HG01891.hp1
HG02257.hp1
HG02647.hp2
HG02896.hp2
HG02970.hp1
NA18522.hp1
NA19043.hp1
 intron_variant MODIFIER c.1846-96_1846-93dup
others(4): Show 
c.1846-96_1846-93dupAACA
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr19 11119974
chr19:11119974 GAAAC
GAAAC
 G
G
 191 a0001c0001t0001g0297
a0001c0001t0005g0007
a0001c0001t0005g0060
others(188): Show 
a0001c0001t0001g0297
a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
a0001c0001t0005g0162
a0001c0001t0005g0172
a0001c0001t0005g0179
a0001c0001t0005g0184
a0001c0001t0005g0192
a0001c0001t0005g0240
a0001c0001t0005g0249
a0001c0001t0005g0258
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0078
a0001c0001t0007g0079
a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0134
a0001c0001t0007g0157
a0001c0001t0007g0171
a0001c0001t0007g0176
a0001c0001t0007g0250
a0001c0001t0007g0251
a0001c0001t0007g0262
a0001c0001t0007g0273
a0001c0001t0007g0303
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0007g0306
a0001c0001t0007g0307
a0001c0001t0007g0308
a0001c0001t0007g0310
a0001c0001t0010g0217
a0001c0001t0010g0239
a0001c0001t0010g0244
a0001c0001t0010g0245
a0001c0001t0010g0248
a0001c0001t0010g0259
a0001c0001t0010g0265
a0001c0001t0011g0073
a0001c0001t0011g0156
a0001c0001t0011g0242
a0001c0001t0011g0246
a0001c0001t0011g0254
a0001c0001t0012g0071
a0001c0001t0012g0136
a0001c0001t0012g0158
a0001c0001t0012g0161
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0013g0319
a0001c0001t0015g0298
a0001c0001t0016g0104
a0001c0001t0016g0108
a0001c0001t0016g0109
a0001c0001t0022g0243
a0001c0001t0023g0051
a0001c0001t0027g0103
a0001c0001t0028g0107
a0001c0001t0029g0132
a0001c0001t0030g0159
a0001c0001t0031g0333
a0001c0001t0032g0216
a0001c0001t0033g0182
a0001c0001t0034g0185
a0001c0001t0035g0020
a0001c0001t0037g0166
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0003t0001g0202
a0001c0004t0005g0042
a0001c0004t0005g0238
a0001c0006t0005g0052
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0266
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0008t0008g0002
a0001c0008t0008g0013
a0001c0008t0008g0019
a0001c0008t0008g0029
a0001c0008t0008g0065
a0001c0008t0008g0167
a0001c0008t0008g0174
a0001c0008t0008g0175
a0001c0008t0008g0178
a0001c0008t0008g0183
a0001c0008t0008g0194
a0001c0008t0008g0214
a0001c0008t0008g0215
a0001c0008t0008g0296
a0001c0008t0047g0190
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0018t0024g0047
a0001c0018t0024g0322
a0001c0020t0056g0264
a0001c0026t0008g0348
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
a0005c0019t0007g0133
a0006c0024t0019g0346
 197 HG00099.hp2
HG00423.hp1
HG00438.hp2
others(194): Show 
HG00099.hp2
HG00423.hp1
HG00438.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02055.hp1
HG02074.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18969.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18990.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19056.hp1
NA19058.hp1
NA19058.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19083.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1846-96_1846-93del
others(4): Show 
c.1846-96_1846-93delAACA
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr19 11119974
chr19:11119992 A
A
 G
G
 1 a0001c0001t0010g0072
a0001c0001t0010g0072
 1 NA19000.hp1
NA19000.hp1
 intron_variant MODIFIER c.1846-100A>G
c.1846-100A>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11119992
chr19:11119996 A
A
 G
G
 16 a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
others(13): Show 
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0046g0046
a0001c0013t0009g0339
 17 HG01109.hp2
HG01952.hp1
HG02055.hp2
others(14): Show 
HG01109.hp2
HG01952.hp1
HG02055.hp2
HG02280.hp1
HG02486.hp1
HG02615.hp1
HG02717.hp2
HG02886.hp1
HG02895.hp1
HG02897.hp1
HG02970.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03453.hp1
NA19240.hp1
 intron_variant MODIFIER c.1846-96A>G
c.1846-96A>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11119996
chr19:11120013 A
A
 G
G
 1 a0001c0002t0001g0261
a0001c0002t0001g0261
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.1846-79A>G
c.1846-79A>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11120013
chr19:11120014 C
C
 G
G
 5 a0001c0002t0001g0075
a0001c0002t0001g0206
a0001c0002t0001g0313
others(2): Show 
a0001c0002t0001g0075
a0001c0002t0001g0206
a0001c0002t0001g0313
a0001c0002t0001g0315
a0001c0002t0001g0316
 5 HG01255.hp1
HG01256.hp2
HG03710.hp2
others(2): Show 
HG01255.hp1
HG01256.hp2
HG03710.hp2
HG04228.hp2
NA21309.hp2
 intron_variant MODIFIER c.1846-78C>G
c.1846-78C>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11120014
chr19:11120044 C
C
 T
T
 3 a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0042g0160
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0042g0160
 3 HG01106.hp2
HG02148.hp2
NA19001.hp2
HG01106.hp2
HG02148.hp2
NA19001.hp2
 intron_variant MODIFIER c.1846-48C>T
c.1846-48C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 12/17 chr19 11120044
chr19:11120354 G
G
 A
A
 1 a0001c0007t0002g0241
a0001c0007t0002g0241
 1 HG00323.hp1
HG00323.hp1
 intron_variant MODIFIER c.1988-16G>A
c.1988-16G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 13/17 chr19 11120354
chr19:11120527 G
G
 A
A
 3 a0001c0008t0008g0214
a0001c0008t0008g0215
a0001c0026t0008g0348
a0001c0008t0008g0214
a0001c0008t0008g0215
a0001c0026t0008g0348
 3 HG01261.hp1
HG02300.hp2
HG03669.hp1
HG01261.hp1
HG02300.hp2
HG03669.hp1
 splice_region_variant&intron_variant LOW c.2140+5G>A
c.2140+5G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 chr19 11120527
chr19:11120659 A
A
 G
G
 7 a0001c0002t0001g0005
a0001c0002t0001g0186
a0001c0002t0001g0213
others(4): Show 
a0001c0002t0001g0005
a0001c0002t0001g0186
a0001c0002t0001g0213
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0227
a0001c0002t0044g0256
 8 HG00099.hp2
HG00438.hp2
HG00735.hp2
others(5): Show 
HG00099.hp2
HG00438.hp2
HG00735.hp2
HG01256.hp1
HG01257.hp1
HG01928.hp2
HG01952.hp2
HG02004.hp1
 intron_variant MODIFIER c.2140+137A>G
c.2140+137A>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 chr19 11120659
chr19:11120808 A
A
 AT
AT
 27 a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0004t0003g0014
others(24): Show 
a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0004t0003g0014
a0001c0004t0004g0067
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0036g0033
a0001c0004t0046g0046
a0001c0013t0009g0339
 29 HG01109.hp2
HG01891.hp1
HG01952.hp1
others(26): Show 
HG01109.hp2
HG01891.hp1
HG01952.hp1
HG02055.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02886.hp1
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03453.hp1
NA18522.hp1
NA18957.hp1
NA18980.hp1
NA19012.hp2
NA19240.hp1
 intron_variant MODIFIER c.2140+293dupT
c.2140+293dupT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 INFO_REALIGN_3_PRIME chr19 11120808
chr19:11120869 A
A
 G
G
 5 a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
others(2): Show 
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0013g0319
a0001c0001t0023g0051
 5 HG01884.hp2
HG02258.hp1
HG02647.hp1
others(2): Show 
HG01884.hp2
HG02258.hp1
HG02647.hp1
HG02723.hp2
HG03209.hp1
 intron_variant MODIFIER c.2140+347A>G
c.2140+347A>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 chr19 11120869
chr19:11120881 C
C
 T
T
 16 a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
others(13): Show 
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0046g0046
a0001c0013t0009g0339
 17 HG01109.hp2
HG01952.hp1
HG02055.hp2
others(14): Show 
HG01109.hp2
HG01952.hp1
HG02055.hp2
HG02280.hp1
HG02486.hp1
HG02615.hp1
HG02717.hp2
HG02886.hp1
HG02895.hp1
HG02897.hp1
HG02970.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03453.hp1
NA19240.hp1
 intron_variant MODIFIER c.2140+359C>T
c.2140+359C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 chr19 11120881
chr19:11121205 C
C
 T
T
 2 a0001c0001t0016g0104
a0001c0001t0027g0103
a0001c0001t0016g0104
a0001c0001t0027g0103
 2 NA18957.hp2
NA19011.hp1
NA18957.hp2
NA19011.hp1
 intron_variant MODIFIER c.2140+683C>T
c.2140+683C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 chr19 11121205
chr19:11121392 G
G
 A
A
 1 a0001c0002t0001g0018
a0001c0002t0001g0018
 1 HG03834.hp2
HG03834.hp2
 intron_variant MODIFIER c.2140+870G>A
c.2140+870G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 chr19 11121392
chr19:11121406 T
T
 G
G
 2 a0001c0003t0003g0068
a0001c0003t0003g0154
a0001c0003t0003g0068
a0001c0003t0003g0154
 2 NA18986.hp1
NA19002.hp2
NA18986.hp1
NA19002.hp2
 intron_variant MODIFIER c.2140+884T>G
c.2140+884T>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 chr19 11121406
chr19:11121423 C
C
 CT
CT
 145 a0001c0001t0001g0297
a0001c0001t0005g0007
a0001c0001t0005g0060
others(142): Show 
a0001c0001t0001g0297
a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
a0001c0001t0005g0172
a0001c0001t0005g0179
a0001c0001t0005g0184
a0001c0001t0005g0192
a0001c0001t0005g0240
a0001c0001t0005g0249
a0001c0001t0005g0258
a0001c0001t0007g0069
a0001c0001t0007g0078
a0001c0001t0007g0079
a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0134
a0001c0001t0007g0157
a0001c0001t0007g0171
a0001c0001t0007g0176
a0001c0001t0007g0250
a0001c0001t0007g0251
a0001c0001t0007g0262
a0001c0001t0007g0273
a0001c0001t0007g0303
a0001c0001t0007g0305
a0001c0001t0007g0306
a0001c0001t0007g0307
a0001c0001t0007g0308
a0001c0001t0007g0310
a0001c0001t0010g0072
a0001c0001t0010g0239
a0001c0001t0010g0244
a0001c0001t0010g0245
a0001c0001t0010g0248
a0001c0001t0010g0259
a0001c0001t0010g0265
a0001c0001t0011g0073
a0001c0001t0011g0156
a0001c0001t0011g0242
a0001c0001t0011g0246
a0001c0001t0011g0254
a0001c0001t0012g0071
a0001c0001t0012g0136
a0001c0001t0012g0158
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0013g0319
a0001c0001t0015g0298
a0001c0001t0016g0108
a0001c0001t0022g0243
a0001c0001t0023g0051
a0001c0001t0029g0132
a0001c0001t0030g0159
a0001c0001t0031g0333
a0001c0001t0032g0216
a0001c0001t0033g0182
a0001c0001t0034g0185
a0001c0001t0035g0020
a0001c0001t0037g0166
a0001c0002t0001g0018
a0001c0002t0001g0075
a0001c0002t0001g0086
a0001c0002t0001g0201
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0255
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0316
a0001c0002t0014g0207
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0022g0150
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0026g0237
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0003g0014
a0001c0004t0004g0048
a0001c0004t0004g0097
a0001c0004t0004g0281
a0001c0004t0005g0238
a0001c0006t0006g0037
a0001c0006t0006g0061
a0001c0006t0006g0266
a0001c0006t0048g0016
a0001c0007t0002g0189
a0001c0007t0020g0318
a0001c0008t0008g0013
a0001c0008t0008g0019
a0001c0008t0008g0029
a0001c0008t0008g0065
a0001c0008t0008g0167
a0001c0008t0008g0174
a0001c0008t0008g0183
a0001c0008t0008g0296
a0001c0009t0017g0268
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0012t0001g0209
a0001c0022t0005g0084
a0002c0005t0002g0344
a0002c0005t0002g0345
a0005c0019t0007g0133
 148 HG00408.hp1
HG00423.hp2
HG00544.hp1
others(145): Show 
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG01069.hp2
HG01074.hp1
HG01099.hp1
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp2
HG02015.hp2
HG02056.hp2
HG02074.hp2
HG02080.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp1
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp2
HG02922.hp2
HG02970.hp1
HG02976.hp2
HG03017.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03471.hp1
HG03490.hp2
HG03516.hp1
HG03540.hp2
HG03654.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18961.hp2
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18967.hp1
NA18968.hp2
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp2
NA18983.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19012.hp1
NA19043.hp2
NA19056.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19083.hp2
NA19085.hp1
NA19088.hp1
NA19088.hp2
NA20129.hp1
NA20905.hp1
 intron_variant MODIFIER c.2140+925dupT
c.2140+925dupT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 INFO_REALIGN_3_PRIME chr19 11121423
chr19:11121423 C
C
 CTT
CTT
 23 a0001c0001t0005g0162
a0001c0001t0007g0304
a0001c0001t0010g0217
others(20): Show 
a0001c0001t0005g0162
a0001c0001t0007g0304
a0001c0001t0010g0217
a0001c0001t0012g0161
a0001c0001t0016g0104
a0001c0001t0016g0109
a0001c0001t0027g0103
a0001c0001t0028g0107
a0001c0003t0003g0154
a0001c0003t0003g0203
a0001c0003t0003g0272
a0001c0003t0003g0334
a0001c0003t0005g0142
a0001c0003t0013g0139
a0001c0003t0023g0149
a0001c0004t0005g0042
a0001c0006t0006g0038
a0001c0006t0006g0330
a0001c0006t0006g0332
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0010t0011g0026
a0001c0021t0008g0287
 23 HG02056.hp1
HG02257.hp2
HG02615.hp2
others(20): Show 
HG02056.hp1
HG02257.hp2
HG02615.hp2
HG02738.hp1
HG03017.hp2
HG03225.hp1
HG03688.hp1
HG03704.hp2
HG03831.hp1
HG03942.hp1
NA18942.hp2
NA18943.hp1
NA18957.hp2
NA18973.hp2
NA18979.hp1
NA18986.hp2
NA18995.hp1
NA19002.hp2
NA19004.hp2
NA19011.hp1
NA19058.hp2
NA19074.hp2
NA19083.hp1
 intron_variant MODIFIER c.2140+924_2140+925d
others(4): Show 
c.2140+924_2140+925dupTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 INFO_REALIGN_3_PRIME chr19 11121423
chr19:11121423 C
C
 CTTT
CTTT
 24 a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
others(21): Show 
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0331
a0001c0006t0006g0335
a0001c0006t0051g0337
a0001c0008t0008g0002
a0001c0008t0008g0178
a0001c0008t0008g0194
a0001c0008t0008g0214
a0001c0008t0008g0215
a0001c0008t0047g0190
a0001c0018t0024g0047
a0001c0018t0024g0322
a0001c0026t0008g0348
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
 26 HG01074.hp2
HG01081.hp1
HG01106.hp1
others(23): Show 
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01257.hp2
HG01261.hp1
HG01496.hp2
HG01975.hp1
HG02074.hp1
HG02300.hp2
HG02723.hp1
HG03579.hp1
HG03669.hp1
HG03834.hp1
HG03942.hp2
NA18940.hp1
NA18954.hp2
NA18973.hp1
NA18983.hp1
NA18985.hp1
NA19011.hp2
NA19058.hp1
NA19079.hp2
NA20805.hp2
 intron_variant MODIFIER c.2140+923_2140+925d
others(5): Show 
c.2140+923_2140+925dupTTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 INFO_REALIGN_3_PRIME chr19 11121423
chr19:11121423 CT
CT
 C
C
 23 a0001c0002t0001g0066
a0001c0002t0001g0229
a0001c0004t0004g0282
others(20): Show 
a0001c0002t0001g0066
a0001c0002t0001g0229
a0001c0004t0004g0282
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0046g0046
a0001c0013t0009g0339
a0002c0005t0002g0012
a0002c0005t0002g0028
a0002c0005t0002g0034
a0002c0005t0002g0317
a0002c0025t0002g0056
 24 HG01109.hp2
HG01952.hp1
HG02258.hp2
others(21): Show 
HG01109.hp2
HG01952.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02717.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02970.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03453.hp1
NA18522.hp2
NA19085.hp2
NA19240.hp1
 intron_variant MODIFIER c.2140+925delT
c.2140+925delT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 INFO_REALIGN_3_PRIME chr19 11121423
chr19:11121523 A
A
 G
G
 191 a0001c0001t0001g0297
a0001c0001t0005g0007
a0001c0001t0005g0060
others(188): Show 
a0001c0001t0001g0297
a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
a0001c0001t0005g0162
a0001c0001t0005g0172
a0001c0001t0005g0179
a0001c0001t0005g0184
a0001c0001t0005g0192
a0001c0001t0005g0240
a0001c0001t0005g0249
a0001c0001t0005g0258
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0078
a0001c0001t0007g0079
a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0134
a0001c0001t0007g0157
a0001c0001t0007g0171
a0001c0001t0007g0176
a0001c0001t0007g0250
a0001c0001t0007g0251
a0001c0001t0007g0262
a0001c0001t0007g0273
a0001c0001t0007g0303
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0007g0306
a0001c0001t0007g0307
a0001c0001t0007g0308
a0001c0001t0007g0310
a0001c0001t0010g0072
a0001c0001t0010g0217
a0001c0001t0010g0239
a0001c0001t0010g0244
a0001c0001t0010g0245
a0001c0001t0010g0248
a0001c0001t0010g0259
a0001c0001t0010g0265
a0001c0001t0011g0073
a0001c0001t0011g0156
a0001c0001t0011g0242
a0001c0001t0011g0246
a0001c0001t0011g0254
a0001c0001t0012g0071
a0001c0001t0012g0136
a0001c0001t0012g0158
a0001c0001t0012g0161
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0013g0319
a0001c0001t0015g0298
a0001c0001t0016g0104
a0001c0001t0016g0108
a0001c0001t0016g0109
a0001c0001t0022g0243
a0001c0001t0023g0051
a0001c0001t0027g0103
a0001c0001t0028g0107
a0001c0001t0029g0132
a0001c0001t0030g0159
a0001c0001t0031g0333
a0001c0001t0032g0216
a0001c0001t0033g0182
a0001c0001t0034g0185
a0001c0001t0035g0020
a0001c0001t0037g0166
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0003t0001g0153
a0001c0004t0005g0042
a0001c0004t0005g0238
a0001c0006t0005g0052
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0266
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0008t0008g0002
a0001c0008t0008g0013
a0001c0008t0008g0019
a0001c0008t0008g0029
a0001c0008t0008g0065
a0001c0008t0008g0167
a0001c0008t0008g0174
a0001c0008t0008g0175
a0001c0008t0008g0178
a0001c0008t0008g0183
a0001c0008t0008g0194
a0001c0008t0008g0214
a0001c0008t0008g0215
a0001c0008t0008g0296
a0001c0008t0047g0190
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0018t0024g0047
a0001c0018t0024g0322
a0001c0020t0056g0264
a0001c0026t0008g0348
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
a0005c0019t0007g0133
 197 HG00099.hp2
HG00423.hp1
HG00438.hp2
others(194): Show 
HG00099.hp2
HG00423.hp1
HG00438.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02055.hp1
HG02074.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03490.hp2
HG03579.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18969.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18980.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18990.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19056.hp1
NA19058.hp1
NA19058.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19083.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.2140+1001A>G
c.2140+1001A>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 chr19 11121523
chr19:11121554 G
G
 A
A
 69 a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
others(66): Show 
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0003t0001g0153
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0020t0056g0264
 72 HG00099.hp2
HG00423.hp1
HG00438.hp2
others(69): Show 
HG00099.hp2
HG00423.hp1
HG00438.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02055.hp1
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02148.hp2
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02965.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18948.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18961.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18992.hp1
NA18995.hp2
NA19001.hp1
NA19001.hp2
NA19009.hp2
NA19056.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19070.hp2
NA19085.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.2140+1032G>A
c.2140+1032G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 chr19 11121554
chr19:11121570 C
C
 T
T
 1 a0001c0004t0009g0284
a0001c0004t0009g0284
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.2140+1048C>T
c.2140+1048C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 chr19 11121570
chr19:11121585 A
A
 T
T
 8 a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0004t0003g0014
others(5): Show 
a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0004t0003g0014
a0001c0004t0004g0067
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0036g0033
 9 HG01891.hp1
HG02145.hp1
HG02257.hp1
others(6): Show 
HG01891.hp1
HG02145.hp1
HG02257.hp1
HG02559.hp2
HG02630.hp2
HG02647.hp2
HG02896.hp2
HG03041.hp2
NA18522.hp1
 intron_variant MODIFIER c.2140+1063A>T
c.2140+1063A>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 chr19 11121585
chr19:11121590 C
C
 G
G
 25 a0001c0006t0005g0052
a0001c0006t0006g0037
a0001c0006t0006g0038
others(22): Show 
a0001c0006t0005g0052
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0266
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
 25 HG01081.hp1
HG01106.hp1
HG01167.hp2
others(22): Show 
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01169.hp2
HG01496.hp2
HG01975.hp1
HG02074.hp1
HG02257.hp2
HG02630.hp1
HG02738.hp1
HG02895.hp2
HG02922.hp2
HG02976.hp2
HG03017.hp2
HG03195.hp2
HG03225.hp1
HG03704.hp2
NA18940.hp1
NA18954.hp2
NA18973.hp1
NA18983.hp1
NA18985.hp1
NA19011.hp2
NA19058.hp1
NA19079.hp2
 intron_variant MODIFIER c.2140+1068C>G
c.2140+1068C>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 chr19 11121590
chr19:11121676 G
G
 A
A
 1 a0006c0024t0019g0346
a0006c0024t0019g0346
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.2140+1154G>A
c.2140+1154G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 chr19 11121676
chr19:11121767 CT
CT
 C
C
 291 a0001c0001t0001g0297
a0001c0001t0005g0007
a0001c0001t0005g0060
others(288): Show 
a0001c0001t0001g0297
a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
a0001c0001t0005g0162
a0001c0001t0005g0172
a0001c0001t0005g0179
a0001c0001t0005g0184
a0001c0001t0005g0192
a0001c0001t0005g0240
a0001c0001t0005g0249
a0001c0001t0005g0258
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0078
a0001c0001t0007g0079
a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0134
a0001c0001t0007g0157
a0001c0001t0007g0171
a0001c0001t0007g0176
a0001c0001t0007g0250
a0001c0001t0007g0251
a0001c0001t0007g0262
a0001c0001t0007g0273
a0001c0001t0007g0303
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0007g0306
a0001c0001t0007g0307
a0001c0001t0007g0308
a0001c0001t0007g0310
a0001c0001t0010g0072
a0001c0001t0010g0239
a0001c0001t0010g0244
a0001c0001t0010g0245
a0001c0001t0010g0248
a0001c0001t0010g0259
a0001c0001t0010g0265
a0001c0001t0011g0073
a0001c0001t0011g0156
a0001c0001t0011g0242
a0001c0001t0011g0246
a0001c0001t0011g0254
a0001c0001t0012g0071
a0001c0001t0012g0136
a0001c0001t0012g0158
a0001c0001t0012g0161
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0013g0319
a0001c0001t0015g0298
a0001c0001t0016g0104
a0001c0001t0016g0108
a0001c0001t0016g0109
a0001c0001t0022g0243
a0001c0001t0023g0051
a0001c0001t0027g0103
a0001c0001t0028g0107
a0001c0001t0029g0132
a0001c0001t0030g0159
a0001c0001t0031g0333
a0001c0001t0032g0216
a0001c0001t0033g0182
a0001c0001t0034g0185
a0001c0001t0035g0020
a0001c0001t0037g0166
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0026g0237
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0001g0095
a0001c0004t0003g0063
a0001c0004t0004g0048
a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0005g0042
a0001c0004t0005g0238
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0018g0168
a0001c0004t0019g0117
a0001c0004t0036g0033
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0004t0046g0046
a0001c0006t0005g0052
a0001c0006t0006g0061
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0266
a0001c0006t0006g0309
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0007t0002g0241
a0001c0007t0020g0035
a0001c0007t0020g0318
a0001c0007t0020g0321
a0001c0008t0008g0002
a0001c0008t0008g0013
a0001c0008t0008g0019
a0001c0008t0008g0029
a0001c0008t0008g0065
a0001c0008t0008g0167
a0001c0008t0008g0174
a0001c0008t0008g0175
a0001c0008t0008g0178
a0001c0008t0008g0183
a0001c0008t0008g0194
a0001c0008t0008g0214
a0001c0008t0008g0215
a0001c0008t0008g0296
a0001c0008t0047g0190
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0013t0009g0339
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0274
a0001c0018t0024g0047
a0001c0018t0024g0322
a0001c0020t0056g0264
a0001c0021t0008g0287
a0001c0022t0005g0084
a0001c0023t0003g0291
a0001c0026t0008g0348
a0001c0027t0003g0275
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
a0004c0014t0004g0112
a0004c0014t0004g0113
a0005c0019t0007g0133
a0006c0024t0019g0346
 300 HG00099.hp2
HG00323.hp1
HG00408.hp1
others(297): Show 
HG00099.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18979.hp1
NA18980.hp1
NA18980.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp1
NA19058.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.2140+1263delT
c.2140+1263delT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 INFO_REALIGN_3_PRIME chr19 11121767
chr19:11121767 CTT
CTT
 C
C
 6 a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0004t0003g0014
others(3): Show 
a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0004t0003g0014
a0001c0004t0018g0120
a0001c0004t0019g0118
a0001c0006t0006g0324
 7 HG01169.hp2
HG02145.hp1
HG02559.hp2
others(4): Show 
HG01169.hp2
HG02145.hp1
HG02559.hp2
HG02630.hp2
HG02895.hp1
HG03041.hp2
NA18957.hp1
 intron_variant MODIFIER c.2140+1262_2140+126
others(6): Show 
c.2140+1262_2140+1263delTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 INFO_REALIGN_3_PRIME chr19 11121767
chr19:11121808 G
G
 A
A
 1 a0001c0001t0012g0161
a0001c0001t0012g0161
 1 NA18995.hp1
NA18995.hp1
 intron_variant MODIFIER c.2140+1286G>A
c.2140+1286G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 chr19 11121808
chr19:11121858 T
T
 C
C
 1 a0001c0002t0001g0252
a0001c0002t0001g0252
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.2141-1316T>C
c.2141-1316T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 chr19 11121858
chr19:11121930 G
G
 A
A
 24 a0001c0006t0005g0052
a0001c0006t0006g0037
a0001c0006t0006g0038
others(21): Show 
a0001c0006t0005g0052
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0266
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
 24 HG01081.hp1
HG01106.hp1
HG01167.hp2
others(21): Show 
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01169.hp2
HG01496.hp2
HG01975.hp1
HG02074.hp1
HG02257.hp2
HG02630.hp1
HG02738.hp1
HG02922.hp2
HG02976.hp2
HG03017.hp2
HG03195.hp2
HG03225.hp1
HG03704.hp2
NA18940.hp1
NA18954.hp2
NA18973.hp1
NA18983.hp1
NA18985.hp1
NA19011.hp2
NA19058.hp1
NA19079.hp2
 intron_variant MODIFIER c.2141-1244G>A
c.2141-1244G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 chr19 11121930
chr19:11122015 C
C
 T
T
 4 a0001c0004t0004g0067
a0001c0004t0004g0281
a0001c0004t0004g0282
others(1): Show 
a0001c0004t0004g0067
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
 4 HG01891.hp1
HG02257.hp1
HG02647.hp2
others(1): Show 
HG01891.hp1
HG02257.hp1
HG02647.hp2
HG02896.hp2
 intron_variant MODIFIER c.2141-1159C>T
c.2141-1159C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 chr19 11122015
chr19:11122020 C
C
 T
T
 99 a0001c0001t0001g0297
a0001c0001t0005g0007
a0001c0001t0005g0060
others(96): Show 
a0001c0001t0001g0297
a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
a0001c0001t0005g0162
a0001c0001t0005g0172
a0001c0001t0005g0179
a0001c0001t0005g0184
a0001c0001t0005g0192
a0001c0001t0005g0240
a0001c0001t0005g0249
a0001c0001t0005g0258
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0078
a0001c0001t0007g0079
a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0134
a0001c0001t0007g0157
a0001c0001t0007g0171
a0001c0001t0007g0176
a0001c0001t0007g0250
a0001c0001t0007g0251
a0001c0001t0007g0262
a0001c0001t0007g0273
a0001c0001t0010g0072
a0001c0001t0010g0217
a0001c0001t0010g0239
a0001c0001t0010g0244
a0001c0001t0010g0245
a0001c0001t0010g0248
a0001c0001t0010g0259
a0001c0001t0010g0265
a0001c0001t0011g0073
a0001c0001t0011g0156
a0001c0001t0011g0242
a0001c0001t0011g0246
a0001c0001t0011g0254
a0001c0001t0012g0071
a0001c0001t0012g0136
a0001c0001t0012g0158
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0013g0319
a0001c0001t0015g0298
a0001c0001t0016g0104
a0001c0001t0016g0108
a0001c0001t0016g0109
a0001c0001t0022g0243
a0001c0001t0023g0051
a0001c0001t0027g0103
a0001c0001t0028g0107
a0001c0001t0029g0132
a0001c0001t0030g0159
a0001c0001t0031g0333
a0001c0001t0032g0216
a0001c0001t0033g0182
a0001c0001t0034g0185
a0001c0001t0035g0020
a0001c0001t0037g0166
a0001c0003t0001g0001
a0001c0003t0001g0269
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0004t0005g0042
a0001c0004t0005g0238
a0001c0008t0008g0002
a0001c0008t0008g0013
a0001c0008t0008g0019
a0001c0008t0008g0029
a0001c0008t0008g0065
a0001c0008t0008g0167
a0001c0008t0008g0174
a0001c0008t0008g0175
a0001c0008t0008g0178
a0001c0008t0008g0183
a0001c0008t0008g0194
a0001c0008t0008g0214
a0001c0008t0008g0215
a0001c0008t0008g0296
a0001c0008t0047g0190
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0022t0005g0084
a0001c0026t0008g0348
a0005c0019t0007g0133
 104 HG00558.hp2
HG00597.hp2
HG00621.hp2
others(101): Show 
HG00558.hp2
HG00597.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp2
HG02015.hp2
HG02056.hp2
HG02080.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02273.hp2
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG03017.hp1
HG03139.hp2
HG03209.hp1
HG03471.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG03834.hp1
HG03942.hp2
HG04204.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18950.hp1
NA18957.hp2
NA18961.hp2
NA18962.hp2
NA18964.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp2
NA18971.hp2
NA18973.hp2
NA18975.hp1
NA18983.hp2
NA18986.hp2
NA18990.hp2
NA18993.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19043.hp2
NA19056.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19083.hp1
NA19083.hp2
NA19088.hp1
NA19088.hp2
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.2141-1154C>T
c.2141-1154C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 chr19 11122020
chr19:11122069 G
G
 A
A
 1 a0001c0006t0048g0016
a0001c0006t0048g0016
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.2141-1105G>A
c.2141-1105G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 chr19 11122069
chr19:11122093 C
C
 CT
CT
 37 a0001c0001t0005g0258
a0001c0001t0007g0100
a0001c0001t0007g0101
others(34): Show 
a0001c0001t0005g0258
a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0176
a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0002t0001g0220
a0001c0002t0042g0160
a0001c0003t0005g0148
a0001c0004t0003g0014
a0001c0004t0004g0088
a0001c0004t0004g0099
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0046g0046
a0001c0007t0002g0189
a0001c0007t0002g0271
a0001c0008t0008g0175
a0001c0008t0008g0178
a0001c0008t0008g0194
a0001c0010t0011g0026
a0001c0012t0001g0209
a0001c0013t0009g0339
a0002c0005t0002g0057
a0002c0005t0002g0074
 39 HG00597.hp2
HG01109.hp2
HG01168.hp1
others(36): Show 
HG00597.hp2
HG01109.hp2
HG01168.hp1
HG01175.hp1
HG01257.hp2
HG01496.hp1
HG01952.hp1
HG02055.hp2
HG02145.hp1
HG02280.hp1
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp2
HG02886.hp1
HG02895.hp1
HG02897.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03453.hp1
HG03831.hp1
HG04115.hp1
HG04184.hp2
NA18950.hp1
NA18950.hp2
NA18983.hp2
NA19001.hp1
NA19001.hp2
NA19067.hp1
NA19067.hp2
NA19083.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.2141-1059dupT
c.2141-1059dupT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 INFO_REALIGN_3_PRIME chr19 11122093
chr19:11122093 C
C
 CTT
CTT
 9 a0001c0004t0004g0067
a0001c0004t0004g0281
a0001c0004t0004g0282
others(6): Show 
a0001c0004t0004g0067
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
a0001c0004t0036g0033
a0001c0006t0048g0016
 9 HG01891.hp1
HG02257.hp1
HG02647.hp2
others(6): Show 
HG01891.hp1
HG02257.hp1
HG02647.hp2
HG02895.hp2
HG02896.hp2
NA18522.hp1
NA18957.hp1
NA18980.hp1
NA19012.hp2
 intron_variant MODIFIER c.2141-1060_2141-105
others(6): Show 
c.2141-1060_2141-1059dupTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 INFO_REALIGN_3_PRIME chr19 11122093
chr19:11122093 CT
CT
 C
C
 55 a0001c0001t0007g0069
a0001c0001t0007g0106
a0001c0001t0007g0251
others(52): Show 
a0001c0001t0007g0069
a0001c0001t0007g0106
a0001c0001t0007g0251
a0001c0001t0033g0182
a0001c0002t0001g0130
a0001c0002t0001g0235
a0001c0002t0001g0261
a0001c0002t0006g0043
a0001c0003t0001g0202
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0302
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0026g0064
a0001c0003t0026g0237
a0001c0003t0053g0123
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0003g0063
a0001c0004t0004g0048
a0001c0004t0005g0238
a0001c0004t0038g0036
a0001c0007t0020g0035
a0001c0007t0020g0318
a0001c0007t0020g0321
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0021t0008g0287
a0001c0027t0003g0275
a0004c0014t0004g0112
a0004c0014t0004g0113
 55 HG00408.hp1
HG00423.hp2
HG00544.hp1
others(52): Show 
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00621.hp1
HG01884.hp1
HG01891.hp2
HG02004.hp2
HG02056.hp1
HG02074.hp2
HG02165.hp1
HG02486.hp2
HG02602.hp1
HG02735.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03098.hp2
HG03130.hp1
HG03225.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03688.hp2
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18962.hp2
NA18967.hp1
NA18971.hp1
NA18975.hp2
NA18979.hp1
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19043.hp1
NA19065.hp2
NA19068.hp1
NA19074.hp1
NA19080.hp2
NA19085.hp1
NA20129.hp1
NA20905.hp2
 intron_variant MODIFIER c.2141-1059delT
c.2141-1059delT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 INFO_REALIGN_3_PRIME chr19 11122093
chr19:11122093 CTT
CTT
 C
C
 29 a0001c0003t0003g0068
a0001c0003t0003g0205
a0001c0003t0003g0295
others(26): Show 
a0001c0003t0003g0068
a0001c0003t0003g0205
a0001c0003t0003g0295
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0006t0005g0052
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0329
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0018t0024g0047
a0001c0018t0024g0322
a0001c0023t0003g0291
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
 29 HG01081.hp1
HG01106.hp1
HG01169.hp2
others(26): Show 
HG01081.hp1
HG01106.hp1
HG01169.hp2
HG01496.hp2
HG01975.hp1
HG02074.hp1
HG02257.hp2
HG02630.hp1
HG02723.hp1
HG02738.hp1
HG02922.hp2
HG02976.hp2
HG03017.hp2
HG03130.hp2
HG03225.hp1
HG03579.hp1
HG06807.hp1
NA18940.hp1
NA18951.hp1
NA18954.hp2
NA18964.hp2
NA18973.hp1
NA18983.hp1
NA18985.hp1
NA18986.hp1
NA18989.hp2
NA19011.hp2
NA19058.hp1
NA19079.hp2
 intron_variant MODIFIER c.2141-1060_2141-105
others(6): Show 
c.2141-1060_2141-1059delTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 INFO_REALIGN_3_PRIME chr19 11122093
chr19:11122170 G
G
 A
A
 3 a0001c0007t0020g0035
a0001c0007t0020g0318
a0001c0007t0020g0321
a0001c0007t0020g0035
a0001c0007t0020g0318
a0001c0007t0020g0321
 3 HG01884.hp1
HG02970.hp1
NA19043.hp1
HG01884.hp1
HG02970.hp1
NA19043.hp1
 intron_variant MODIFIER c.2141-1004G>A
c.2141-1004G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 chr19 11122170
chr19:11122237 G
G
 A
A
 1 a0001c0004t0003g0014
a0001c0004t0003g0014
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.2141-937G>A
c.2141-937G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 chr19 11122237
chr19:11122243 G
G
 A
A
 71 a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
others(68): Show 
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0007t0020g0318
a0001c0007t0020g0321
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0020t0056g0264
 74 HG00099.hp2
HG00423.hp1
HG00438.hp2
others(71): Show 
HG00099.hp2
HG00423.hp1
HG00438.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp2
HG01884.hp1
HG01928.hp2
HG01934.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02055.hp1
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02148.hp2
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02965.hp1
HG02970.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18948.hp2
NA18951.hp2
NA18953.hp2
NA18961.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18975.hp2
NA18992.hp1
NA18995.hp2
NA19001.hp1
NA19001.hp2
NA19009.hp2
NA19056.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19070.hp2
NA19085.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.2141-931G>A
c.2141-931G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 chr19 11122243
chr19:11122246 T
T
 C
C
 5 a0001c0004t0004g0067
a0001c0004t0004g0281
a0001c0004t0004g0282
others(2): Show 
a0001c0004t0004g0067
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0036g0033
 5 HG01891.hp1
HG02257.hp1
HG02647.hp2
others(2): Show 
HG01891.hp1
HG02257.hp1
HG02647.hp2
HG02896.hp2
NA18522.hp1
 intron_variant MODIFIER c.2141-928T>C
c.2141-928T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 chr19 11122246
chr19:11122275 A
A
 T
T
 66 a0001c0001t0010g0072
a0001c0002t0001g0005
a0001c0002t0001g0006
others(63): Show 
a0001c0001t0010g0072
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0020t0056g0264
 69 HG00099.hp2
HG00423.hp1
HG00438.hp2
others(66): Show 
HG00099.hp2
HG00423.hp1
HG00438.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18948.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18961.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18975.hp2
NA18992.hp1
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19009.hp2
NA19056.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19070.hp2
NA19085.hp2
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.2141-899A>T
c.2141-899A>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 chr19 11122275
chr19:11122290 A
A
 G
G
 2 a0001c0018t0024g0047
a0001c0018t0024g0322
a0001c0018t0024g0047
a0001c0018t0024g0322
 2 HG02723.hp1
HG03579.hp1
HG02723.hp1
HG03579.hp1
 intron_variant MODIFIER c.2141-884A>G
c.2141-884A>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 chr19 11122290
chr19:11122387 A
A
 G
G
 5 a0001c0004t0004g0067
a0001c0004t0004g0281
a0001c0004t0004g0282
others(2): Show 
a0001c0004t0004g0067
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0036g0033
 5 HG01891.hp1
HG02257.hp1
HG02647.hp2
others(2): Show 
HG01891.hp1
HG02257.hp1
HG02647.hp2
HG02896.hp2
NA18522.hp1
 intron_variant MODIFIER c.2141-787A>G
c.2141-787A>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 chr19 11122387
chr19:11122388 T
T
 C
C
 1 a0001c0004t0004g0281
a0001c0004t0004g0281
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.2141-786T>C
c.2141-786T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 chr19 11122388
chr19:11122395 C
C
 CT
CT
 22 a0001c0007t0002g0189
a0001c0007t0002g0312
a0001c0007t0020g0035
others(19): Show 
a0001c0007t0002g0189
a0001c0007t0002g0312
a0001c0007t0020g0035
a0001c0007t0020g0318
a0001c0007t0052g0177
a0001c0008t0008g0002
a0001c0008t0008g0013
a0001c0008t0008g0065
a0001c0008t0008g0167
a0001c0008t0008g0174
a0001c0008t0008g0175
a0001c0008t0008g0194
a0001c0008t0008g0214
a0001c0008t0008g0215
a0001c0008t0008g0296
a0001c0008t0047g0190
a0001c0021t0008g0287
a0001c0026t0008g0348
a0002c0005t0002g0009
a0002c0005t0002g0074
a0002c0005t0002g0286
a0006c0024t0019g0346
 24 HG00323.hp2
HG01074.hp2
HG01167.hp1
others(21): Show 
HG00323.hp2
HG01074.hp2
HG01167.hp1
HG01175.hp2
HG01257.hp2
HG01261.hp1
HG01496.hp1
HG01981.hp2
HG02056.hp1
HG02145.hp2
HG02300.hp2
HG02970.hp1
HG03139.hp2
HG03453.hp2
HG03579.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
NA18906.hp2
NA18992.hp2
NA19043.hp1
NA20300.hp2
NA20805.hp2
 intron_variant MODIFIER c.2141-757dupT
c.2141-757dupT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 INFO_REALIGN_3_PRIME chr19 11122395
chr19:11122395 C
C
 CTTTTTTT
others(1): Show 
CTTTTTTTT
 7 a0001c0001t0021g0008
a0001c0004t0004g0067
a0001c0004t0004g0282
others(4): Show 
a0001c0001t0021g0008
a0001c0004t0004g0067
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0036g0033
 8 HG02257.hp1
HG02559.hp2
HG02630.hp2
others(5): Show 
HG02257.hp1
HG02559.hp2
HG02630.hp2
HG02647.hp2
HG02896.hp2
NA18522.hp1
NA18957.hp1
NA18980.hp1
 intron_variant MODIFIER c.2141-764_2141-757d
others(10): Show 
c.2141-764_2141-757dupTTTTTTTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 INFO_REALIGN_3_PRIME chr19 11122395
chr19:11122395 C
C
 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 12 a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
others(9): Show 
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0019g0117
a0001c0006t0051g0337
a0001c0013t0009g0339
 13 HG01109.hp2
HG01952.hp1
HG02074.hp1
others(10): Show 
HG01109.hp2
HG01952.hp1
HG02074.hp1
HG02280.hp1
HG02486.hp1
HG02615.hp1
HG02717.hp2
HG02897.hp1
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03453.hp1
 intron_variant MODIFIER c.2141-766_2141-757d
others(12): Show 
c.2141-766_2141-757dupTTTTTTTTTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 INFO_REALIGN_3_PRIME chr19 11122395
chr19:11122395 C
C
 CTTTTTTT
others(4): Show 
CTTTTTTTTTTT
 3 a0001c0004t0006g0145
a0001c0004t0009g0284
a0001c0004t0046g0046
a0001c0004t0006g0145
a0001c0004t0009g0284
a0001c0004t0046g0046
 3 HG02055.hp2
HG02970.hp2
NA19240.hp1
HG02055.hp2
HG02970.hp2
NA19240.hp1
 intron_variant MODIFIER c.2141-767_2141-757d
others(13): Show 
c.2141-767_2141-757dupTTTTTTTTTTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 INFO_REALIGN_3_PRIME chr19 11122395
chr19:11122395 C
C
 CTTTTTTT
others(5): Show 
CTTTTTTTTTTTT
 3 a0001c0006t0006g0037
a0001c0006t0006g0266
a0003c0011t0006g0323
a0001c0006t0006g0037
a0001c0006t0006g0266
a0003c0011t0006g0323
 3 HG02922.hp2
HG03195.hp2
NA19079.hp2
HG02922.hp2
HG03195.hp2
NA19079.hp2
 intron_variant MODIFIER c.2141-768_2141-757d
others(14): Show 
c.2141-768_2141-757dupTTTTTTTTTTTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 INFO_REALIGN_3_PRIME chr19 11122395
chr19:11122395 C
C
 CTTTTTTT
others(6): Show 
CTTTTTTTTTTTTT
 2 a0001c0004t0009g0146
a0001c0006t0049g0062
a0001c0004t0009g0146
a0001c0006t0049g0062
 2 HG02257.hp2
HG02886.hp1
HG02257.hp2
HG02886.hp1
 intron_variant MODIFIER c.2141-769_2141-757d
others(15): Show 
c.2141-769_2141-757dupTTTTTTTTTTTTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 INFO_REALIGN_3_PRIME chr19 11122395
chr19:11122395 C
C
 CTTTTTTT
others(7): Show 
CTTTTTTTTTTTTTT
 2 a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0038
a0001c0006t0006g0061
 2 HG02976.hp2
HG03225.hp1
HG02976.hp2
HG03225.hp1
 intron_variant MODIFIER c.2141-770_2141-757d
others(16): Show 
c.2141-770_2141-757dupTTTTTTTTTTTTTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 INFO_REALIGN_3_PRIME chr19 11122395
chr19:11122395 C
C
 CTTTTTTT
others(11): Show 
CTTTTTTTTTTTTTTTTTT
 1 a0001c0018t0024g0322
a0001c0018t0024g0322
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.2141-774_2141-757d
others(20): Show 
c.2141-774_2141-757dupTTTTTTTTTTTTTTTTTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 INFO_REALIGN_3_PRIME chr19 11122395
chr19:11122395 C
C
 CTTTTTTT
others(12): Show 
CTTTTTTTTTTTTTTTTTTT
 1 a0001c0018t0024g0047
a0001c0018t0024g0047
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.2141-775_2141-757d
others(21): Show 
c.2141-775_2141-757dupTTTTTTTTTTTTTTTTTTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 INFO_REALIGN_3_PRIME chr19 11122395
chr19:11122395 C
C
 CTTTTTTT
others(20): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTTTT
 3 a0001c0004t0004g0196
a0001c0006t0006g0083
a0001c0006t0006g0327
a0001c0004t0004g0196
a0001c0006t0006g0083
a0001c0006t0006g0327
 3 HG01167.hp2
HG01496.hp2
HG02129.hp2
HG01167.hp2
HG01496.hp2
HG02129.hp2
 intron_variant MODIFIER c.2141-757_2141-756i
others(29): Show 
c.2141-757_2141-756insTTTTTTTTTTTTTTTTTTTTTTTTTTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 INFO_REALIGN_3_PRIME chr19 11122395
chr19:11122395 C
C
 CTTTTTTT
others(21): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTTTTT
 6 a0001c0006t0006g0098
a0001c0006t0006g0324
a0001c0006t0006g0325
others(3): Show 
a0001c0006t0006g0098
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0331
a0001c0006t0006g0335
a0003c0011t0006g0336
 6 HG01081.hp1
HG01169.hp2
HG01975.hp1
others(3): Show 
HG01081.hp1
HG01169.hp2
HG01975.hp1
NA18940.hp1
NA19011.hp2
NA19058.hp1
 intron_variant MODIFIER c.2141-757_2141-756i
others(30): Show 
c.2141-757_2141-756insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 INFO_REALIGN_3_PRIME chr19 11122395
chr19:11122395 C
C
 CTTTTTTT
others(22): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
 4 a0001c0006t0006g0077
a0001c0006t0006g0309
a0001c0006t0006g0326
others(1): Show 
a0001c0006t0006g0077
a0001c0006t0006g0309
a0001c0006t0006g0326
a0001c0006t0006g0329
 4 HG01106.hp1
NA18954.hp2
NA18973.hp1
others(1): Show 
HG01106.hp1
NA18954.hp2
NA18973.hp1
NA18983.hp1
 intron_variant MODIFIER c.2141-757_2141-756i
others(31): Show 
c.2141-757_2141-756insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 INFO_REALIGN_3_PRIME chr19 11122395
chr19:11122395 CT
CT
 C
C
 70 a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
others(67): Show 
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0026g0237
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0003g0014
a0001c0004t0003g0063
a0001c0004t0004g0048
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0006t0006g0330
a0001c0006t0006g0332
a0001c0006t0050g0311
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0023t0003g0291
a0001c0027t0003g0275
a0004c0014t0004g0112
a0004c0014t0004g0113
 70 HG00408.hp1
HG00408.hp2
HG00423.hp2
others(67): Show 
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG01891.hp2
HG02015.hp1
HG02074.hp2
HG02145.hp1
HG02165.hp1
HG02486.hp2
HG02602.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp2
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03688.hp2
HG03704.hp2
HG03942.hp1
HG06807.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18964.hp2
NA18967.hp1
NA18969.hp1
NA18971.hp1
NA18979.hp1
NA18985.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA19002.hp2
NA19004.hp1
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp1
NA19080.hp2
NA19085.hp1
NA20129.hp1
 intron_variant MODIFIER c.2141-757delT
c.2141-757delT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 INFO_REALIGN_3_PRIME chr19 11122395
chr19:11122395 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 C
C
 3 a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
 3 NA18968.hp1
NA18995.hp2
NA19091.hp1
NA18968.hp1
NA18995.hp2
NA19091.hp1
 intron_variant MODIFIER c.2141-766_2141-757d
others(12): Show 
c.2141-766_2141-757delTTTTTTTTTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 INFO_REALIGN_3_PRIME chr19 11122395
chr19:11122395 CTTTTTTT
others(4): Show 
CTTTTTTTTTTT
 C
C
 159 a0001c0001t0001g0297
a0001c0001t0005g0007
a0001c0001t0005g0060
others(156): Show 
a0001c0001t0001g0297
a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
a0001c0001t0005g0162
a0001c0001t0005g0172
a0001c0001t0005g0179
a0001c0001t0005g0184
a0001c0001t0005g0192
a0001c0001t0005g0240
a0001c0001t0005g0249
a0001c0001t0005g0258
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0078
a0001c0001t0007g0079
a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0134
a0001c0001t0007g0157
a0001c0001t0007g0171
a0001c0001t0007g0176
a0001c0001t0007g0250
a0001c0001t0007g0251
a0001c0001t0007g0262
a0001c0001t0007g0273
a0001c0001t0007g0303
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0007g0306
a0001c0001t0007g0307
a0001c0001t0007g0308
a0001c0001t0007g0310
a0001c0001t0010g0072
a0001c0001t0010g0217
a0001c0001t0010g0239
a0001c0001t0010g0244
a0001c0001t0010g0245
a0001c0001t0010g0248
a0001c0001t0010g0259
a0001c0001t0010g0265
a0001c0001t0011g0073
a0001c0001t0011g0156
a0001c0001t0011g0242
a0001c0001t0011g0246
a0001c0001t0011g0254
a0001c0001t0012g0071
a0001c0001t0012g0136
a0001c0001t0012g0158
a0001c0001t0012g0161
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0013g0319
a0001c0001t0015g0298
a0001c0001t0016g0104
a0001c0001t0016g0108
a0001c0001t0016g0109
a0001c0001t0022g0243
a0001c0001t0023g0051
a0001c0001t0027g0103
a0001c0001t0028g0107
a0001c0001t0029g0132
a0001c0001t0030g0159
a0001c0001t0031g0333
a0001c0001t0032g0216
a0001c0001t0033g0182
a0001c0001t0034g0185
a0001c0001t0035g0020
a0001c0001t0037g0166
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0004t0001g0095
a0001c0004t0005g0042
a0001c0004t0005g0238
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0020t0056g0264
a0001c0022t0005g0084
a0005c0019t0007g0133
 165 HG00099.hp2
HG00423.hp1
HG00438.hp2
others(162): Show 
HG00099.hp2
HG00423.hp1
HG00438.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp2
HG01071.hp1
HG01074.hp1
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01261.hp2
HG01358.hp2
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02055.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02615.hp2
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02965.hp1
HG03017.hp1
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03490.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp2
NA18971.hp2
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp2
NA18983.hp2
NA18986.hp2
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.2141-767_2141-757d
others(13): Show 
c.2141-767_2141-757delTTTTTTTTTTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 INFO_REALIGN_3_PRIME chr19 11122395
chr19:11122405 T
T
 G
G
 1 a0001c0003t0003g0128
a0001c0003t0003g0128
 1 HG00558.hp1
HG00558.hp1
 intron_variant MODIFIER c.2141-769T>G
c.2141-769T>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 chr19 11122405
chr19:11122409 T
T
 G
G
 67 a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
others(64): Show 
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0026g0237
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0003g0014
a0001c0004t0003g0063
a0001c0004t0004g0048
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0023t0003g0291
a0001c0027t0003g0275
a0004c0014t0004g0112
a0004c0014t0004g0113
 67 HG00408.hp1
HG00408.hp2
HG00423.hp2
others(64): Show 
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG01891.hp2
HG02015.hp1
HG02074.hp2
HG02145.hp1
HG02165.hp1
HG02486.hp2
HG02602.hp1
HG02735.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp2
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03688.hp2
HG03942.hp1
HG06807.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18964.hp2
NA18967.hp1
NA18969.hp1
NA18971.hp1
NA18979.hp1
NA18985.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA19002.hp2
NA19004.hp1
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp1
NA19080.hp2
NA19085.hp1
NA20129.hp1
 intron_variant MODIFIER c.2141-765T>G
c.2141-765T>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 chr19 11122409
chr19:11122460 C
C
 T
T
 1 a0002c0025t0002g0056
a0002c0025t0002g0056
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.2141-714C>T
c.2141-714C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 chr19 11122460
chr19:11122461 A
A
 G
G
 1 a0001c0006t0005g0052
a0001c0006t0005g0052
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.2141-713A>G
c.2141-713A>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 chr19 11122461
chr19:11122478 C
C
 G
G
 1 a0001c0013t0004g0338
a0001c0013t0004g0338
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.2141-696C>G
c.2141-696C>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 chr19 11122478
chr19:11122611 A
A
 T
T
 1 a0002c0005t0002g0009
a0002c0005t0002g0009
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.2141-563A>T
c.2141-563A>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 chr19 11122611
chr19:11122682 ATGAGCCA
others(12): Show 
ATGAGCCACCTCGCCTGGTG
 A
A
 2 a0001c0018t0024g0047
a0001c0018t0024g0322
a0001c0018t0024g0047
a0001c0018t0024g0322
 2 HG02723.hp1
HG03579.hp1
HG02723.hp1
HG03579.hp1
 intron_variant MODIFIER c.2141-477_2141-459d
others(21): Show 
c.2141-477_2141-459delTGGTGTGAGCCACCTCGCC
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 INFO_REALIGN_3_PRIME chr19 11122682
chr19:11122919 TC
TC
 T
T
 89 a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
others(86): Show 
a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
a0001c0001t0005g0162
a0001c0001t0005g0172
a0001c0001t0005g0179
a0001c0001t0005g0184
a0001c0001t0005g0192
a0001c0001t0005g0240
a0001c0001t0005g0249
a0001c0001t0005g0258
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0078
a0001c0001t0007g0079
a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0134
a0001c0001t0007g0157
a0001c0001t0007g0171
a0001c0001t0007g0176
a0001c0001t0007g0250
a0001c0001t0007g0251
a0001c0001t0007g0262
a0001c0001t0007g0273
a0001c0001t0007g0303
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0007g0306
a0001c0001t0007g0307
a0001c0001t0007g0308
a0001c0001t0007g0310
a0001c0001t0010g0072
a0001c0001t0010g0217
a0001c0001t0010g0239
a0001c0001t0010g0244
a0001c0001t0010g0245
a0001c0001t0010g0248
a0001c0001t0010g0259
a0001c0001t0010g0265
a0001c0001t0011g0073
a0001c0001t0011g0156
a0001c0001t0011g0242
a0001c0001t0011g0246
a0001c0001t0011g0254
a0001c0001t0012g0071
a0001c0001t0012g0136
a0001c0001t0012g0158
a0001c0001t0012g0161
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0013g0319
a0001c0001t0016g0104
a0001c0001t0016g0108
a0001c0001t0016g0109
a0001c0001t0022g0243
a0001c0001t0023g0051
a0001c0001t0027g0103
a0001c0001t0028g0107
a0001c0001t0029g0132
a0001c0001t0030g0159
a0001c0001t0031g0333
a0001c0001t0032g0216
a0001c0001t0033g0182
a0001c0001t0034g0185
a0001c0001t0035g0020
a0001c0001t0037g0166
a0001c0002t0012g0059
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0004t0005g0042
a0001c0004t0005g0238
a0001c0006t0005g0052
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0022t0005g0084
a0005c0019t0007g0133
 90 HG00558.hp2
HG00597.hp2
HG00621.hp2
others(87): Show 
HG00558.hp2
HG00597.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG01069.hp2
HG01074.hp1
HG01099.hp1
HG01168.hp2
HG01169.hp1
HG01261.hp2
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02080.hp2
HG02148.hp1
HG02155.hp1
HG02258.hp1
HG02273.hp2
HG02523.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04204.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18950.hp1
NA18953.hp1
NA18954.hp1
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18964.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp2
NA18973.hp2
NA18975.hp1
NA18980.hp2
NA18983.hp2
NA18986.hp2
NA18990.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19011.hp1
NA19056.hp2
NA19058.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19083.hp1
NA19083.hp2
NA19088.hp1
NA20905.hp1
 intron_variant MODIFIER c.2141-249delC
c.2141-249delC
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 INFO_REALIGN_3_PRIME chr19 11122919
chr19:11122925 C
C
 T
T
 23 a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
others(20): Show 
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0266
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
 23 HG01081.hp1
HG01106.hp1
HG01167.hp2
others(20): Show 
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01169.hp2
HG01496.hp2
HG01975.hp1
HG02074.hp1
HG02257.hp2
HG02738.hp1
HG02922.hp2
HG02976.hp2
HG03017.hp2
HG03195.hp2
HG03225.hp1
HG03704.hp2
NA18940.hp1
NA18954.hp2
NA18973.hp1
NA18983.hp1
NA18985.hp1
NA19011.hp2
NA19058.hp1
NA19079.hp2
 intron_variant MODIFIER c.2141-249C>T
c.2141-249C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 chr19 11122925
chr19:11122929 G
G
 A
A
 28 a0001c0004t0004g0048
a0001c0004t0004g0067
a0001c0004t0004g0080
others(25): Show 
a0001c0004t0004g0048
a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0013t0004g0041
a0001c0013t0004g0338
a0004c0014t0004g0112
a0004c0014t0004g0113
 28 HG00408.hp2
HG00544.hp2
HG01891.hp1
others(25): Show 
HG00408.hp2
HG00544.hp2
HG01891.hp1
HG01891.hp2
HG02015.hp1
HG02129.hp2
HG02257.hp1
HG02647.hp2
HG02735.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG03490.hp1
HG03540.hp1
HG03654.hp2
NA18939.hp1
NA18941.hp2
NA18950.hp2
NA18969.hp1
NA18985.hp2
NA18989.hp1
NA18990.hp1
NA19004.hp1
NA19010.hp2
NA19012.hp1
NA19067.hp1
NA20129.hp1
 intron_variant MODIFIER c.2141-245G>A
c.2141-245G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 chr19 11122929
chr19:11122970 C
C
 T
T
 2 a0001c0002t0014g0207
a0001c0003t0013g0139
a0001c0002t0014g0207
a0001c0003t0013g0139
 2 HG04115.hp2
NA18986.hp2
HG04115.hp2
NA18986.hp2
 intron_variant MODIFIER c.2141-204C>T
c.2141-204C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 chr19 11122970
chr19:11122977 AT
AT
 A
A
 185 a0001c0001t0001g0297
a0001c0001t0007g0273
a0001c0001t0021g0008
others(182): Show 
a0001c0001t0001g0297
a0001c0001t0007g0273
a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0294
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0026g0237
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0001g0095
a0001c0004t0003g0014
a0001c0004t0003g0063
a0001c0004t0004g0048
a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0036g0033
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0004t0046g0046
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0048g0016
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0013t0009g0339
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0018t0024g0047
a0001c0018t0024g0322
a0001c0023t0003g0291
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
a0004c0014t0004g0112
a0004c0014t0004g0113
 192 HG00099.hp2
HG00408.hp1
HG00408.hp2
others(189): Show 
HG00099.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp2
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG02004.hp1
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02523.hp2
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03490.hp1
HG03490.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18966.hp1
NA18967.hp1
NA18968.hp1
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18975.hp2
NA18979.hp1
NA18980.hp1
NA18983.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18992.hp1
NA18995.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp2
NA19004.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19056.hp1
NA19058.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19070.hp2
NA19074.hp1
NA19079.hp2
NA19080.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.2141-180delT
c.2141-180delT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 INFO_REALIGN_3_PRIME chr19 11122977
chr19:11122977 ATT
ATT
 A
A
 6 a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
others(3): Show 
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0205
a0001c0003t0006g0031
a0001c0027t0003g0275
 6 HG02486.hp2
HG02896.hp1
HG02897.hp2
others(3): Show 
HG02486.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03130.hp1
NA18964.hp2
 intron_variant MODIFIER c.2141-181_2141-180d
others(4): Show 
c.2141-181_2141-180delTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 INFO_REALIGN_3_PRIME chr19 11122977
chr19:11123002 G
G
 C
C
 89 a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
others(86): Show 
a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
a0001c0001t0005g0162
a0001c0001t0005g0172
a0001c0001t0005g0179
a0001c0001t0005g0184
a0001c0001t0005g0192
a0001c0001t0005g0240
a0001c0001t0005g0249
a0001c0001t0005g0258
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0078
a0001c0001t0007g0079
a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0134
a0001c0001t0007g0157
a0001c0001t0007g0171
a0001c0001t0007g0176
a0001c0001t0007g0250
a0001c0001t0007g0251
a0001c0001t0007g0262
a0001c0001t0007g0273
a0001c0001t0007g0303
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0007g0306
a0001c0001t0007g0307
a0001c0001t0007g0308
a0001c0001t0007g0310
a0001c0001t0010g0072
a0001c0001t0010g0217
a0001c0001t0010g0239
a0001c0001t0010g0244
a0001c0001t0010g0245
a0001c0001t0010g0248
a0001c0001t0010g0259
a0001c0001t0010g0265
a0001c0001t0011g0073
a0001c0001t0011g0156
a0001c0001t0011g0242
a0001c0001t0011g0246
a0001c0001t0011g0254
a0001c0001t0012g0071
a0001c0001t0012g0136
a0001c0001t0012g0158
a0001c0001t0012g0161
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0013g0319
a0001c0001t0016g0104
a0001c0001t0016g0108
a0001c0001t0016g0109
a0001c0001t0022g0243
a0001c0001t0023g0051
a0001c0001t0027g0103
a0001c0001t0028g0107
a0001c0001t0029g0132
a0001c0001t0030g0159
a0001c0001t0031g0333
a0001c0001t0032g0216
a0001c0001t0033g0182
a0001c0001t0034g0185
a0001c0001t0035g0020
a0001c0001t0037g0166
a0001c0002t0012g0059
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0004t0005g0042
a0001c0004t0005g0238
a0001c0006t0005g0052
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0022t0005g0084
a0005c0019t0007g0133
 90 HG00558.hp2
HG00597.hp2
HG00621.hp2
others(87): Show 
HG00558.hp2
HG00597.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG01069.hp2
HG01074.hp1
HG01099.hp1
HG01168.hp2
HG01169.hp1
HG01261.hp2
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02080.hp2
HG02148.hp1
HG02155.hp1
HG02258.hp1
HG02273.hp2
HG02523.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04204.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18950.hp1
NA18953.hp1
NA18954.hp1
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18964.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp2
NA18973.hp2
NA18975.hp1
NA18980.hp2
NA18983.hp2
NA18986.hp2
NA18990.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19011.hp1
NA19056.hp2
NA19058.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19083.hp1
NA19083.hp2
NA19088.hp1
NA20905.hp1
 intron_variant MODIFIER c.2141-172G>C
c.2141-172G>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 chr19 11123002
chr19:11123101 G
G
 A
A
 12 a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
others(9): Show 
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0059g0129
a0001c0004t0003g0063
 12 HG00423.hp2
HG00544.hp1
HG00558.hp1
others(9): Show 
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG02074.hp2
NA18941.hp1
NA18942.hp2
NA18948.hp1
NA18964.hp2
NA18979.hp1
NA19007.hp1
NA19068.hp1
NA19074.hp1
 intron_variant MODIFIER c.2141-73G>A
c.2141-73G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 14/17 chr19 11123101
chr19:11123476 C
C
 T
T
 1 a0002c0005t0008g0277
a0002c0005t0008g0277
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.2311+132C>T
c.2311+132C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11123476
chr19:11123618 C
C
 T
T
 5 a0001c0001t0016g0104
a0001c0001t0016g0108
a0001c0001t0016g0109
others(2): Show 
a0001c0001t0016g0104
a0001c0001t0016g0108
a0001c0001t0016g0109
a0001c0001t0027g0103
a0001c0001t0028g0107
 5 NA18957.hp2
NA18973.hp2
NA18990.hp2
others(2): Show 
NA18957.hp2
NA18973.hp2
NA18990.hp2
NA19011.hp1
NA19083.hp1
 intron_variant MODIFIER c.2311+274C>T
c.2311+274C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11123618
chr19:11123651 C
C
 T
T
 23 a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
others(20): Show 
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0266
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0049g0062
a0001c0006t0050g0311
a0001c0006t0051g0337
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
 23 HG01081.hp1
HG01106.hp1
HG01167.hp2
others(20): Show 
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01169.hp2
HG01496.hp2
HG01975.hp1
HG02074.hp1
HG02257.hp2
HG02738.hp1
HG02922.hp2
HG02976.hp2
HG03017.hp2
HG03195.hp2
HG03225.hp1
HG03704.hp2
NA18940.hp1
NA18954.hp2
NA18973.hp1
NA18983.hp1
NA18985.hp1
NA19011.hp2
NA19058.hp1
NA19079.hp2
 intron_variant MODIFIER c.2311+307C>T
c.2311+307C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11123651
chr19:11123915 G
G
 A
A
 141 a0001c0001t0001g0297
a0001c0001t0015g0298
a0001c0002t0001g0005
others(138): Show 
a0001c0001t0001g0297
a0001c0001t0015g0298
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0026g0237
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0001g0095
a0001c0004t0003g0014
a0001c0004t0003g0063
a0001c0004t0004g0048
a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0023t0003g0291
a0001c0027t0003g0275
a0004c0014t0004g0112
a0004c0014t0004g0113
 146 HG00099.hp2
HG00408.hp1
HG00408.hp2
others(143): Show 
HG00099.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02486.hp2
HG02523.hp2
HG02602.hp1
HG02647.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp2
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp1
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18964.hp2
NA18966.hp1
NA18967.hp1
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18975.hp2
NA18979.hp1
NA18985.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18992.hp1
NA19001.hp1
NA19001.hp2
NA19002.hp2
NA19004.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19056.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19070.hp2
NA19074.hp1
NA19080.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp2
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.2311+571G>A
c.2311+571G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11123915
chr19:11123997 G
G
 A
A
 1 a0001c0002t0001g0213
a0001c0002t0001g0213
 1 HG01256.hp1
HG01256.hp1
 intron_variant MODIFIER c.2311+653G>A
c.2311+653G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11123997
chr19:11124058 T
T
 C
C
 1 a0001c0006t0006g0331
a0001c0006t0006g0331
 1 NA18940.hp1
NA18940.hp1
 intron_variant MODIFIER c.2311+714T>C
c.2311+714T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11124058
chr19:11124106 G
G
 A
A
 1 a0001c0002t0001g0130
a0001c0002t0001g0130
 1 NA18948.hp2
NA18948.hp2
 intron_variant MODIFIER c.2311+762G>A
c.2311+762G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11124106
chr19:11124364 C
C
 T
T
 3 a0001c0001t0021g0008
a0001c0001t0021g0267
a0002c0005t0002g0039
a0001c0001t0021g0008
a0001c0001t0021g0267
a0002c0005t0002g0039
 4 HG02559.hp2
HG02630.hp2
HG03041.hp2
others(1): Show 
HG02559.hp2
HG02630.hp2
HG03041.hp2
HG03471.hp2
 intron_variant MODIFIER c.2311+1020C>T
c.2311+1020C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11124364
chr19:11124401 T
T
 G
G
 28 a0001c0004t0004g0048
a0001c0004t0004g0067
a0001c0004t0004g0080
others(25): Show 
a0001c0004t0004g0048
a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0013t0004g0041
a0001c0013t0004g0338
a0004c0014t0004g0112
a0004c0014t0004g0113
 28 HG00408.hp2
HG00544.hp2
HG01891.hp1
others(25): Show 
HG00408.hp2
HG00544.hp2
HG01891.hp1
HG01891.hp2
HG02015.hp1
HG02129.hp2
HG02257.hp1
HG02647.hp2
HG02735.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG03490.hp1
HG03540.hp1
HG03654.hp2
NA18939.hp1
NA18941.hp2
NA18950.hp2
NA18969.hp1
NA18985.hp2
NA18989.hp1
NA18990.hp1
NA19004.hp1
NA19010.hp2
NA19012.hp1
NA19067.hp1
NA20129.hp1
 intron_variant MODIFIER c.2311+1057T>G
c.2311+1057T>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11124401
chr19:11124414 C
C
 T
T
 93 a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
others(90): Show 
a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
a0001c0001t0005g0162
a0001c0001t0005g0172
a0001c0001t0005g0179
a0001c0001t0005g0184
a0001c0001t0005g0192
a0001c0001t0005g0240
a0001c0001t0005g0249
a0001c0001t0005g0258
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0078
a0001c0001t0007g0079
a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0134
a0001c0001t0007g0157
a0001c0001t0007g0171
a0001c0001t0007g0176
a0001c0001t0007g0250
a0001c0001t0007g0251
a0001c0001t0007g0262
a0001c0001t0007g0273
a0001c0001t0007g0303
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0007g0306
a0001c0001t0007g0307
a0001c0001t0007g0308
a0001c0001t0007g0310
a0001c0001t0010g0072
a0001c0001t0010g0217
a0001c0001t0010g0239
a0001c0001t0010g0244
a0001c0001t0010g0245
a0001c0001t0010g0248
a0001c0001t0010g0259
a0001c0001t0010g0265
a0001c0001t0011g0073
a0001c0001t0011g0156
a0001c0001t0011g0242
a0001c0001t0011g0246
a0001c0001t0011g0254
a0001c0001t0012g0071
a0001c0001t0012g0136
a0001c0001t0012g0158
a0001c0001t0012g0161
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0013g0319
a0001c0001t0016g0104
a0001c0001t0016g0108
a0001c0001t0016g0109
a0001c0001t0022g0243
a0001c0001t0023g0051
a0001c0001t0027g0103
a0001c0001t0028g0107
a0001c0001t0029g0132
a0001c0001t0030g0159
a0001c0001t0031g0333
a0001c0001t0032g0216
a0001c0001t0033g0182
a0001c0001t0034g0185
a0001c0001t0035g0020
a0001c0001t0037g0166
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0004t0005g0042
a0001c0004t0005g0238
a0001c0006t0005g0052
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0022t0005g0084
a0005c0019t0007g0133
 94 HG00558.hp2
HG00597.hp2
HG00621.hp2
others(91): Show 
HG00558.hp2
HG00597.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG01069.hp2
HG01074.hp1
HG01099.hp1
HG01168.hp2
HG01169.hp1
HG01261.hp2
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02080.hp2
HG02148.hp1
HG02155.hp1
HG02258.hp1
HG02273.hp2
HG02523.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp2
HG04204.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18950.hp1
NA18953.hp1
NA18954.hp1
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18964.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18973.hp2
NA18975.hp1
NA18980.hp2
NA18983.hp2
NA18986.hp2
NA18990.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19011.hp1
NA19056.hp2
NA19058.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19083.hp1
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA20905.hp1
 intron_variant MODIFIER c.2311+1070C>T
c.2311+1070C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11124414
chr19:11124522 A
A
 AT
AT
 17 a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
others(14): Show 
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0036g0033
a0001c0004t0046g0046
a0001c0013t0009g0339
 18 HG01109.hp2
HG01952.hp1
HG02055.hp2
others(15): Show 
HG01109.hp2
HG01952.hp1
HG02055.hp2
HG02280.hp1
HG02486.hp1
HG02615.hp1
HG02717.hp2
HG02886.hp1
HG02895.hp1
HG02897.hp1
HG02970.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03453.hp1
NA18522.hp1
NA19240.hp1
 intron_variant MODIFIER c.2311+1186dupT
c.2311+1186dupT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 INFO_REALIGN_3_PRIME chr19 11124522
chr19:11124572 A
A
 T
T
 2 a0001c0006t0006g0061
a0006c0024t0019g0346
a0001c0006t0006g0061
a0006c0024t0019g0346
 2 HG02976.hp2
HG03579.hp2
HG02976.hp2
HG03579.hp2
 intron_variant MODIFIER c.2311+1228A>T
c.2311+1228A>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11124572
chr19:11124579 T
T
 A
A
 40 a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0004t0006g0145
others(37): Show 
a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0036g0033
a0001c0004t0046g0046
a0001c0006t0048g0016
a0001c0008t0008g0002
a0001c0008t0008g0013
a0001c0008t0008g0019
a0001c0008t0008g0029
a0001c0008t0008g0065
a0001c0008t0008g0167
a0001c0008t0008g0174
a0001c0008t0008g0175
a0001c0008t0008g0178
a0001c0008t0008g0183
a0001c0008t0008g0194
a0001c0008t0008g0214
a0001c0008t0008g0215
a0001c0008t0008g0296
a0001c0008t0047g0190
a0001c0013t0009g0339
a0001c0021t0008g0287
a0001c0026t0008g0348
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
 44 HG01074.hp2
HG01109.hp2
HG01167.hp1
others(41): Show 
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp2
HG01257.hp2
HG01261.hp1
HG01496.hp1
HG01516.hp1
HG01934.hp1
HG01952.hp1
HG01981.hp2
HG02055.hp2
HG02056.hp1
HG02280.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02630.hp2
HG02717.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03453.hp1
HG03669.hp1
HG03834.hp1
HG03942.hp2
NA18522.hp1
NA18906.hp2
NA19043.hp2
NA19240.hp1
NA20300.hp1
NA20805.hp2
 intron_variant MODIFIER c.2311+1235T>A
c.2311+1235T>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11124579
chr19:11124635 C
C
 T
T
 5 a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
others(2): Show 
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0006g0031
a0001c0027t0003g0275
 5 HG02486.hp2
HG02896.hp1
HG02897.hp2
others(2): Show 
HG02486.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03130.hp1
 intron_variant MODIFIER c.2311+1291C>T
c.2311+1291C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11124635
chr19:11124661 G
G
 A
A
 37 a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
others(34): Show 
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0294
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0026g0237
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0003g0063
a0001c0023t0003g0291
 37 HG00408.hp1
HG00423.hp2
HG00544.hp1
others(34): Show 
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG02074.hp2
HG02165.hp1
HG02602.hp1
HG02809.hp2
HG03130.hp2
HG03516.hp1
HG03540.hp2
HG03688.hp2
HG03942.hp1
HG06807.hp1
NA18939.hp2
NA18941.hp1
NA18942.hp2
NA18945.hp1
NA18948.hp1
NA18951.hp1
NA18952.hp1
NA18964.hp2
NA18967.hp1
NA18971.hp1
NA18979.hp1
NA18986.hp1
NA18989.hp2
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19068.hp1
NA19074.hp1
NA19080.hp2
NA19085.hp1
 intron_variant MODIFIER c.2311+1317G>A
c.2311+1317G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11124661
chr19:11124747 T
T
 C
C
 190 a0001c0001t0001g0297
a0001c0001t0015g0298
a0001c0001t0021g0008
others(187): Show 
a0001c0001t0001g0297
a0001c0001t0015g0298
a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0026g0237
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0001g0095
a0001c0004t0003g0014
a0001c0004t0003g0063
a0001c0004t0004g0048
a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0036g0033
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0004t0046g0046
a0001c0006t0048g0016
a0001c0007t0020g0035
a0001c0007t0020g0318
a0001c0007t0020g0321
a0001c0008t0008g0002
a0001c0008t0008g0013
a0001c0008t0008g0019
a0001c0008t0008g0029
a0001c0008t0008g0065
a0001c0008t0008g0167
a0001c0008t0008g0174
a0001c0008t0008g0175
a0001c0008t0008g0178
a0001c0008t0008g0183
a0001c0008t0008g0194
a0001c0008t0008g0214
a0001c0008t0008g0215
a0001c0008t0008g0296
a0001c0008t0047g0190
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0013t0009g0339
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0018t0024g0047
a0001c0018t0024g0322
a0001c0021t0008g0287
a0001c0023t0003g0291
a0001c0026t0008g0348
a0001c0027t0003g0275
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
a0004c0014t0004g0112
a0004c0014t0004g0113
a0006c0024t0019g0346
 199 HG00099.hp2
HG00408.hp1
HG00408.hp2
others(196): Show 
HG00099.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01074.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01261.hp1
HG01358.hp2
HG01496.hp1
HG01516.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03490.hp1
HG03490.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18957.hp1
NA18961.hp2
NA18962.hp1
NA18964.hp2
NA18966.hp1
NA18967.hp1
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18975.hp2
NA18979.hp1
NA18980.hp1
NA18985.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18992.hp1
NA19001.hp1
NA19001.hp2
NA19002.hp2
NA19004.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19070.hp2
NA19074.hp1
NA19080.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.2311+1403T>C
c.2311+1403T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11124747
chr19:11124775 C
C
 CAGGCTTC
others(3): Show 
CAGGCTTCACA
 18 a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
others(15): Show 
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0050g0311
a0001c0006t0051g0337
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
 18 HG01081.hp1
HG01106.hp1
HG01167.hp2
others(15): Show 
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01169.hp2
HG01496.hp2
HG01975.hp1
HG02074.hp1
HG02738.hp1
HG03017.hp2
HG03704.hp2
NA18940.hp1
NA18954.hp2
NA18973.hp1
NA18983.hp1
NA18985.hp1
NA19011.hp2
NA19058.hp1
NA19079.hp2
 intron_variant MODIFIER c.2311+1431_2311+143
others(14): Show 
c.2311+1431_2311+1432insAGGCTTCACA
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11124775
chr19:11124776 T
T
 G
G
 18 a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
others(15): Show 
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0050g0311
a0001c0006t0051g0337
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
 18 HG01081.hp1
HG01106.hp1
HG01167.hp2
others(15): Show 
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01169.hp2
HG01496.hp2
HG01975.hp1
HG02074.hp1
HG02738.hp1
HG03017.hp2
HG03704.hp2
NA18940.hp1
NA18954.hp2
NA18973.hp1
NA18983.hp1
NA18985.hp1
NA19011.hp2
NA19058.hp1
NA19079.hp2
 intron_variant MODIFIER c.2311+1432T>G
c.2311+1432T>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11124776
chr19:11124778 T
T
 TGGG
TGGG
 18 a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
others(15): Show 
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0309
a0001c0006t0006g0324
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0050g0311
a0001c0006t0051g0337
a0003c0011t0006g0323
a0003c0011t0006g0328
a0003c0011t0006g0336
 18 HG01081.hp1
HG01106.hp1
HG01167.hp2
others(15): Show 
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01169.hp2
HG01496.hp2
HG01975.hp1
HG02074.hp1
HG02738.hp1
HG03017.hp2
HG03704.hp2
NA18940.hp1
NA18954.hp2
NA18973.hp1
NA18983.hp1
NA18985.hp1
NA19011.hp2
NA19058.hp1
NA19079.hp2
 intron_variant MODIFIER c.2311+1435_2311+143
others(7): Show 
c.2311+1435_2311+1436insGGG
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 INFO_REALIGN_3_PRIME chr19 11124778
chr19:11124822 G
G
 A
A
 23 a0001c0007t0020g0035
a0001c0007t0020g0318
a0001c0007t0020g0321
others(20): Show 
a0001c0007t0020g0035
a0001c0007t0020g0318
a0001c0007t0020g0321
a0001c0008t0008g0002
a0001c0008t0008g0013
a0001c0008t0008g0019
a0001c0008t0008g0029
a0001c0008t0008g0065
a0001c0008t0008g0167
a0001c0008t0008g0174
a0001c0008t0008g0175
a0001c0008t0008g0178
a0001c0008t0008g0183
a0001c0008t0008g0194
a0001c0008t0008g0214
a0001c0008t0008g0215
a0001c0008t0008g0296
a0001c0008t0047g0190
a0001c0021t0008g0287
a0001c0026t0008g0348
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
 25 HG01074.hp2
HG01167.hp1
HG01168.hp1
others(22): Show 
HG01074.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp2
HG01257.hp2
HG01261.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp1
HG01934.hp1
HG01981.hp2
HG02056.hp1
HG02300.hp2
HG02451.hp1
HG02818.hp1
HG02970.hp1
HG03139.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
NA18906.hp2
NA19043.hp1
NA19043.hp2
NA20300.hp1
NA20805.hp2
 intron_variant MODIFIER c.2311+1478G>A
c.2311+1478G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11124822
chr19:11124828 C
C
 T
T
 92 a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
others(89): Show 
a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
a0001c0001t0005g0162
a0001c0001t0005g0172
a0001c0001t0005g0179
a0001c0001t0005g0184
a0001c0001t0005g0192
a0001c0001t0005g0240
a0001c0001t0005g0249
a0001c0001t0005g0258
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0078
a0001c0001t0007g0079
a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0134
a0001c0001t0007g0157
a0001c0001t0007g0171
a0001c0001t0007g0176
a0001c0001t0007g0250
a0001c0001t0007g0251
a0001c0001t0007g0262
a0001c0001t0007g0273
a0001c0001t0007g0303
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0007g0306
a0001c0001t0007g0307
a0001c0001t0007g0308
a0001c0001t0007g0310
a0001c0001t0010g0072
a0001c0001t0010g0217
a0001c0001t0010g0239
a0001c0001t0010g0244
a0001c0001t0010g0245
a0001c0001t0010g0248
a0001c0001t0010g0259
a0001c0001t0010g0265
a0001c0001t0011g0073
a0001c0001t0011g0156
a0001c0001t0011g0242
a0001c0001t0011g0246
a0001c0001t0011g0254
a0001c0001t0012g0071
a0001c0001t0012g0136
a0001c0001t0012g0158
a0001c0001t0012g0161
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0013g0319
a0001c0001t0016g0104
a0001c0001t0016g0108
a0001c0001t0016g0109
a0001c0001t0022g0243
a0001c0001t0023g0051
a0001c0001t0027g0103
a0001c0001t0028g0107
a0001c0001t0029g0132
a0001c0001t0030g0159
a0001c0001t0031g0333
a0001c0001t0032g0216
a0001c0001t0033g0182
a0001c0001t0034g0185
a0001c0001t0035g0020
a0001c0001t0037g0166
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0004t0005g0042
a0001c0004t0005g0238
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0022t0005g0084
a0005c0019t0007g0133
 93 HG00558.hp2
HG00597.hp2
HG00621.hp2
others(90): Show 
HG00558.hp2
HG00597.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG01069.hp2
HG01074.hp1
HG01099.hp1
HG01168.hp2
HG01169.hp1
HG01261.hp2
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02080.hp2
HG02148.hp1
HG02155.hp1
HG02258.hp1
HG02273.hp2
HG02523.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp2
HG04204.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18950.hp1
NA18953.hp1
NA18954.hp1
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18964.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18973.hp2
NA18975.hp1
NA18980.hp2
NA18983.hp2
NA18986.hp2
NA18990.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19011.hp1
NA19056.hp2
NA19058.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19083.hp1
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA20905.hp1
 intron_variant MODIFIER c.2311+1484C>T
c.2311+1484C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11124828
chr19:11124829 G
G
 A
A
 20 a0001c0008t0008g0002
a0001c0008t0008g0013
a0001c0008t0008g0019
others(17): Show 
a0001c0008t0008g0002
a0001c0008t0008g0013
a0001c0008t0008g0019
a0001c0008t0008g0029
a0001c0008t0008g0065
a0001c0008t0008g0167
a0001c0008t0008g0174
a0001c0008t0008g0175
a0001c0008t0008g0178
a0001c0008t0008g0183
a0001c0008t0008g0194
a0001c0008t0008g0214
a0001c0008t0008g0215
a0001c0008t0008g0296
a0001c0008t0047g0190
a0001c0021t0008g0287
a0001c0026t0008g0348
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
 22 HG01074.hp2
HG01167.hp1
HG01168.hp1
others(19): Show 
HG01074.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp2
HG01257.hp2
HG01261.hp1
HG01496.hp1
HG01516.hp1
HG01934.hp1
HG01981.hp2
HG02056.hp1
HG02300.hp2
HG02451.hp1
HG02818.hp1
HG03139.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
NA18906.hp2
NA19043.hp2
NA20300.hp1
NA20805.hp2
 intron_variant MODIFIER c.2311+1485G>A
c.2311+1485G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11124829
chr19:11124871 G
G
 A
A
 1 a0001c0001t0031g0333
a0001c0001t0031g0333
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.2311+1527G>A
c.2311+1527G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11124871
chr19:11124891 T
T
 G
G
 1 a0001c0002t0001g0200
a0001c0002t0001g0200
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.2311+1547T>G
c.2311+1547T>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11124891
chr19:11124932 G
G
 T
T
 1 a0001c0015t0002g0049
a0001c0015t0002g0049
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.2311+1588G>T
c.2311+1588G>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11124932
chr19:11125127 C
C
 T
T
 3 a0001c0007t0002g0189
a0001c0007t0002g0312
a0002c0005t0002g0012
a0001c0007t0002g0189
a0001c0007t0002g0312
a0002c0005t0002g0012
 3 HG00323.hp2
HG02559.hp1
HG04115.hp1
HG00323.hp2
HG02559.hp1
HG04115.hp1
 intron_variant MODIFIER c.2311+1783C>T
c.2311+1783C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11125127
chr19:11125179 A
A
 T
T
 141 a0001c0001t0001g0297
a0001c0001t0015g0298
a0001c0002t0001g0005
others(138): Show 
a0001c0001t0001g0297
a0001c0001t0015g0298
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0026g0237
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0001g0095
a0001c0004t0003g0014
a0001c0004t0003g0063
a0001c0004t0004g0048
a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0023t0003g0291
a0001c0027t0003g0275
a0004c0014t0004g0112
a0004c0014t0004g0113
 146 HG00099.hp2
HG00408.hp1
HG00408.hp2
others(143): Show 
HG00099.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02486.hp2
HG02523.hp2
HG02602.hp1
HG02647.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp2
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp1
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18964.hp2
NA18966.hp1
NA18967.hp1
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18975.hp2
NA18979.hp1
NA18985.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18992.hp1
NA19001.hp1
NA19001.hp2
NA19002.hp2
NA19004.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19056.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19070.hp2
NA19074.hp1
NA19080.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp2
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.2311+1835A>T
c.2311+1835A>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11125179
chr19:11125258 A
A
 G
G
 141 a0001c0001t0001g0297
a0001c0001t0015g0298
a0001c0002t0001g0005
others(138): Show 
a0001c0001t0001g0297
a0001c0001t0015g0298
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0026g0237
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0001g0095
a0001c0004t0003g0014
a0001c0004t0003g0063
a0001c0004t0004g0048
a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0023t0003g0291
a0001c0027t0003g0275
a0004c0014t0004g0112
a0004c0014t0004g0113
 146 HG00099.hp2
HG00408.hp1
HG00408.hp2
others(143): Show 
HG00099.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02486.hp2
HG02523.hp2
HG02602.hp1
HG02647.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp2
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp1
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18964.hp2
NA18966.hp1
NA18967.hp1
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18975.hp2
NA18979.hp1
NA18985.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18992.hp1
NA19001.hp1
NA19001.hp2
NA19002.hp2
NA19004.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19056.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19070.hp2
NA19074.hp1
NA19080.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp2
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.2311+1914A>G
c.2311+1914A>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11125258
chr19:11125343 G
G
 A
A
 1 a0001c0003t0023g0149
a0001c0003t0023g0149
 1 NA18943.hp1
NA18943.hp1
 intron_variant MODIFIER c.2311+1999G>A
c.2311+1999G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11125343
chr19:11125445 C
C
 G
G
 283 a0001c0001t0001g0297
a0001c0001t0005g0007
a0001c0001t0005g0060
others(280): Show 
a0001c0001t0001g0297
a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
a0001c0001t0005g0162
a0001c0001t0005g0172
a0001c0001t0005g0179
a0001c0001t0005g0184
a0001c0001t0005g0192
a0001c0001t0005g0240
a0001c0001t0005g0249
a0001c0001t0005g0258
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0078
a0001c0001t0007g0079
a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0134
a0001c0001t0007g0157
a0001c0001t0007g0171
a0001c0001t0007g0176
a0001c0001t0007g0250
a0001c0001t0007g0251
a0001c0001t0007g0262
a0001c0001t0007g0273
a0001c0001t0007g0303
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0007g0306
a0001c0001t0007g0307
a0001c0001t0007g0308
a0001c0001t0007g0310
a0001c0001t0010g0072
a0001c0001t0010g0217
a0001c0001t0010g0239
a0001c0001t0010g0244
a0001c0001t0010g0245
a0001c0001t0010g0248
a0001c0001t0010g0259
a0001c0001t0010g0265
a0001c0001t0011g0073
a0001c0001t0011g0156
a0001c0001t0011g0242
a0001c0001t0011g0246
a0001c0001t0011g0254
a0001c0001t0012g0071
a0001c0001t0012g0136
a0001c0001t0012g0158
a0001c0001t0012g0161
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0013g0319
a0001c0001t0015g0298
a0001c0001t0016g0104
a0001c0001t0016g0108
a0001c0001t0016g0109
a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0001t0022g0243
a0001c0001t0023g0051
a0001c0001t0027g0103
a0001c0001t0028g0107
a0001c0001t0029g0132
a0001c0001t0030g0159
a0001c0001t0031g0333
a0001c0001t0032g0216
a0001c0001t0033g0182
a0001c0001t0034g0185
a0001c0001t0035g0020
a0001c0001t0037g0166
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0026g0237
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0001g0095
a0001c0004t0003g0014
a0001c0004t0003g0063
a0001c0004t0004g0048
a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0005g0042
a0001c0004t0005g0238
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0036g0033
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0004t0046g0046
a0001c0006t0005g0052
a0001c0006t0048g0016
a0001c0007t0020g0035
a0001c0007t0020g0318
a0001c0007t0020g0321
a0001c0008t0008g0002
a0001c0008t0008g0013
a0001c0008t0008g0019
a0001c0008t0008g0029
a0001c0008t0008g0065
a0001c0008t0008g0167
a0001c0008t0008g0174
a0001c0008t0008g0175
a0001c0008t0008g0178
a0001c0008t0008g0183
a0001c0008t0008g0194
a0001c0008t0008g0214
a0001c0008t0008g0215
a0001c0008t0008g0296
a0001c0008t0047g0190
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0013t0009g0339
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0018t0024g0047
a0001c0018t0024g0322
a0001c0021t0008g0287
a0001c0022t0005g0084
a0001c0023t0003g0291
a0001c0026t0008g0348
a0001c0027t0003g0275
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
a0004c0014t0004g0112
a0004c0014t0004g0113
a0005c0019t0007g0133
a0006c0024t0019g0346
 293 HG00099.hp2
HG00408.hp1
HG00408.hp2
others(290): Show 
HG00099.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01496.hp1
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18979.hp1
NA18980.hp1
NA18980.hp2
NA18983.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.2311+2101C>G
c.2311+2101C>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11125445
chr19:11125480 G
G
 GT
GT
 31 a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0083
others(28): Show 
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0329
a0001c0006t0006g0332
a0001c0006t0049g0062
a0001c0006t0051g0337
a0001c0007t0001g0165
a0001c0007t0001g0181
a0001c0007t0002g0173
a0001c0007t0002g0189
a0001c0007t0041g0193
a0001c0008t0008g0013
a0001c0008t0008g0065
a0001c0008t0008g0167
a0001c0008t0008g0174
a0001c0008t0008g0214
a0001c0015t0002g0049
a0001c0018t0024g0047
a0001c0026t0008g0348
a0002c0005t0002g0057
a0002c0005t0002g0074
a0002c0005t0002g0155
a0002c0005t0002g0286
a0002c0005t0002g0340
a0002c0005t0002g0343
a0002c0005t0002g0345
a0002c0005t0002g0347
a0002c0005t0008g0277
a0003c0011t0006g0323
 31 HG00738.hp2
HG01069.hp1
HG01081.hp2
others(28): Show 
HG00738.hp2
HG01069.hp1
HG01081.hp2
HG01106.hp1
HG01175.hp2
HG01255.hp2
HG01261.hp1
HG01496.hp2
HG01516.hp2
HG01981.hp2
HG02074.hp1
HG02145.hp2
HG02257.hp2
HG02622.hp1
HG02738.hp1
HG02818.hp1
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03516.hp2
HG03579.hp1
HG03669.hp1
HG04115.hp1
HG04228.hp1
NA18906.hp1
NA18906.hp2
NA19011.hp2
NA19079.hp2
NA20300.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2311+2154dupT
c.2311+2154dupT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 INFO_REALIGN_3_PRIME chr19 11125480
chr19:11125480 GT
GT
 G
G
 59 a0001c0001t0005g0258
a0001c0001t0007g0304
a0001c0001t0010g0245
others(56): Show 
a0001c0001t0005g0258
a0001c0001t0007g0304
a0001c0001t0010g0245
a0001c0001t0012g0158
a0001c0001t0016g0104
a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0001t0035g0020
a0001c0002t0001g0220
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0236
a0001c0002t0001g0255
a0001c0002t0001g0316
a0001c0002t0006g0276
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0003g0115
a0001c0003t0003g0126
a0001c0003t0003g0288
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0137
a0001c0003t0005g0141
a0001c0003t0026g0064
a0001c0003t0026g0237
a0001c0004t0001g0095
a0001c0004t0003g0014
a0001c0004t0003g0063
a0001c0004t0004g0087
a0001c0004t0004g0099
a0001c0004t0004g0279
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0146
a0001c0004t0009g0151
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0018g0120
a0001c0004t0018g0187
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0039g0094
a0001c0004t0046g0046
a0001c0006t0048g0016
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0012t0001g0209
a0001c0013t0009g0339
a0001c0027t0003g0275
 61 HG00408.hp1
HG00408.hp2
HG00423.hp2
others(58): Show 
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00597.hp1
HG00621.hp1
HG00673.hp1
HG00735.hp2
HG01175.hp1
HG01358.hp2
HG01952.hp1
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02145.hp1
HG02148.hp2
HG02280.hp1
HG02486.hp1
HG02523.hp2
HG02559.hp2
HG02615.hp1
HG02630.hp2
HG02717.hp2
HG02738.hp2
HG02809.hp1
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03195.hp1
HG03453.hp1
HG03654.hp2
HG03704.hp1
HG03831.hp1
HG03942.hp1
HG04228.hp2
NA18950.hp1
NA18953.hp2
NA18957.hp1
NA18964.hp1
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18989.hp2
NA18995.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19010.hp1
NA19011.hp1
NA19012.hp2
NA19058.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19091.hp1
NA19240.hp1
 intron_variant MODIFIER c.2311+2154delT
c.2311+2154delT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 INFO_REALIGN_3_PRIME chr19 11125480
chr19:11125480 GTT
GTT
 G
G
 193 a0001c0001t0001g0297
a0001c0001t0005g0007
a0001c0001t0005g0060
others(190): Show 
a0001c0001t0001g0297
a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
a0001c0001t0005g0162
a0001c0001t0005g0172
a0001c0001t0005g0179
a0001c0001t0005g0184
a0001c0001t0005g0192
a0001c0001t0005g0240
a0001c0001t0005g0249
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0078
a0001c0001t0007g0079
a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0134
a0001c0001t0007g0157
a0001c0001t0007g0171
a0001c0001t0007g0176
a0001c0001t0007g0250
a0001c0001t0007g0251
a0001c0001t0007g0262
a0001c0001t0007g0273
a0001c0001t0007g0303
a0001c0001t0007g0305
a0001c0001t0007g0306
a0001c0001t0007g0307
a0001c0001t0007g0308
a0001c0001t0007g0310
a0001c0001t0010g0072
a0001c0001t0010g0217
a0001c0001t0010g0239
a0001c0001t0010g0244
a0001c0001t0010g0248
a0001c0001t0010g0259
a0001c0001t0010g0265
a0001c0001t0011g0073
a0001c0001t0011g0156
a0001c0001t0011g0242
a0001c0001t0011g0246
a0001c0001t0011g0254
a0001c0001t0012g0071
a0001c0001t0012g0136
a0001c0001t0012g0161
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0013g0319
a0001c0001t0015g0298
a0001c0001t0016g0108
a0001c0001t0016g0109
a0001c0001t0022g0243
a0001c0001t0023g0051
a0001c0001t0027g0103
a0001c0001t0028g0107
a0001c0001t0029g0132
a0001c0001t0030g0159
a0001c0001t0031g0333
a0001c0001t0032g0216
a0001c0001t0033g0182
a0001c0001t0034g0185
a0001c0001t0037g0166
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0003t0001g0001
a0001c0003t0001g0269
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0128
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0004g0048
a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0005g0042
a0001c0004t0005g0238
a0001c0004t0036g0033
a0001c0004t0038g0036
a0001c0006t0005g0052
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0022t0005g0084
a0001c0023t0003g0291
a0004c0014t0004g0112
a0004c0014t0004g0113
a0005c0019t0007g0133
 199 HG00099.hp2
HG00423.hp1
HG00438.hp2
others(196): Show 
HG00099.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01069.hp2
HG01071.hp1
HG01074.hp1
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01261.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02056.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02486.hp2
HG02523.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18975.hp1
NA18979.hp1
NA18980.hp2
NA18983.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19012.hp1
NA19056.hp1
NA19056.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.2311+2153_2311+215
others(6): Show 
c.2311+2153_2311+2154delTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 INFO_REALIGN_3_PRIME chr19 11125480
chr19:11125485 T
T
 G
G
 1 a0001c0002t0001g0186
a0001c0002t0001g0186
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.2311+2141T>G
c.2311+2141T>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11125485
chr19:11125486 T
T
 G
G
 1 a0001c0001t0005g0240
a0001c0001t0005g0240
 1 NA18966.hp2
NA18966.hp2
 intron_variant MODIFIER c.2311+2142T>G
c.2311+2142T>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11125486
chr19:11125487 T
T
 G
G
 5 a0001c0007t0002g0169
a0001c0007t0002g0170
a0001c0007t0002g0191
others(2): Show 
a0001c0007t0002g0169
a0001c0007t0002g0170
a0001c0007t0002g0191
a0001c0007t0002g0301
a0001c0007t0052g0177
 5 HG00438.hp1
NA18943.hp2
NA18979.hp2
others(2): Show 
HG00438.hp1
NA18943.hp2
NA18979.hp2
NA18992.hp2
NA19064.hp1
 intron_variant MODIFIER c.2311+2143T>G
c.2311+2143T>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11125487
chr19:11125504 C
C
 A
A
 66 a0001c0001t0001g0297
a0001c0001t0015g0298
a0001c0002t0001g0005
others(63): Show 
a0001c0001t0001g0297
a0001c0001t0015g0298
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0004t0001g0095
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
 71 HG00099.hp2
HG00423.hp1
HG00438.hp2
others(68): Show 
HG00099.hp2
HG00423.hp1
HG00438.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp2
HG01928.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02523.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18948.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18966.hp1
NA18971.hp2
NA18975.hp2
NA18992.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19009.hp2
NA19056.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19070.hp2
NA19085.hp2
NA19088.hp2
NA19091.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.2311+2160C>A
c.2311+2160C>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11125504
chr19:11125702 G
G
 A
A
 141 a0001c0001t0001g0297
a0001c0001t0015g0298
a0001c0002t0001g0005
others(138): Show 
a0001c0001t0001g0297
a0001c0001t0015g0298
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0026g0237
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0001g0095
a0001c0004t0003g0014
a0001c0004t0003g0063
a0001c0004t0004g0048
a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0023t0003g0291
a0001c0027t0003g0275
a0004c0014t0004g0112
a0004c0014t0004g0113
 146 HG00099.hp2
HG00408.hp1
HG00408.hp2
others(143): Show 
HG00099.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02486.hp2
HG02523.hp2
HG02602.hp1
HG02647.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp2
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp1
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18964.hp2
NA18966.hp1
NA18967.hp1
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18975.hp2
NA18979.hp1
NA18985.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18992.hp1
NA19001.hp1
NA19001.hp2
NA19002.hp2
NA19004.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19056.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19070.hp2
NA19074.hp1
NA19080.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp2
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.2312-2306G>A
c.2312-2306G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11125702
chr19:11125735 C
C
 T
T
 22 a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0087
others(19): Show 
a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0039g0094
 22 HG00408.hp2
HG00544.hp2
HG01891.hp1
others(19): Show 
HG00408.hp2
HG00544.hp2
HG01891.hp1
HG02015.hp1
HG02129.hp2
HG02257.hp1
HG02647.hp2
HG02735.hp1
HG02896.hp2
HG03490.hp1
HG03654.hp2
NA18939.hp1
NA18941.hp2
NA18950.hp2
NA18969.hp1
NA18985.hp2
NA18989.hp1
NA18990.hp1
NA19004.hp1
NA19010.hp2
NA19012.hp1
NA19067.hp1
 intron_variant MODIFIER c.2312-2273C>T
c.2312-2273C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11125735
chr19:11125839 T
T
 G
G
 1 a0001c0002t0001g0260
a0001c0002t0001g0260
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.2312-2169T>G
c.2312-2169T>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11125839
chr19:11126016 G
G
 T
T
 4 a0001c0003t0003g0068
a0001c0003t0003g0116
a0001c0003t0003g0154
others(1): Show 
a0001c0003t0003g0068
a0001c0003t0003g0116
a0001c0003t0003g0154
a0001c0003t0058g0293
 4 HG02165.hp1
NA18952.hp1
NA18986.hp1
others(1): Show 
HG02165.hp1
NA18952.hp1
NA18986.hp1
NA19002.hp2
 intron_variant MODIFIER c.2312-1992G>T
c.2312-1992G>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11126016
chr19:11126128 T
T
 C
C
 166 a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
others(163): Show 
a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
a0001c0001t0005g0162
a0001c0001t0005g0172
a0001c0001t0005g0179
a0001c0001t0005g0184
a0001c0001t0005g0192
a0001c0001t0005g0240
a0001c0001t0005g0249
a0001c0001t0005g0258
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0078
a0001c0001t0007g0079
a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0134
a0001c0001t0007g0157
a0001c0001t0007g0171
a0001c0001t0007g0176
a0001c0001t0007g0250
a0001c0001t0007g0251
a0001c0001t0007g0262
a0001c0001t0007g0273
a0001c0001t0007g0303
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0007g0306
a0001c0001t0007g0307
a0001c0001t0007g0308
a0001c0001t0007g0310
a0001c0001t0010g0072
a0001c0001t0010g0217
a0001c0001t0010g0239
a0001c0001t0010g0244
a0001c0001t0010g0245
a0001c0001t0010g0248
a0001c0001t0010g0259
a0001c0001t0010g0265
a0001c0001t0011g0073
a0001c0001t0011g0156
a0001c0001t0011g0242
a0001c0001t0011g0246
a0001c0001t0011g0254
a0001c0001t0012g0071
a0001c0001t0012g0136
a0001c0001t0012g0158
a0001c0001t0012g0161
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0013g0319
a0001c0001t0016g0104
a0001c0001t0016g0108
a0001c0001t0016g0109
a0001c0001t0022g0243
a0001c0001t0023g0051
a0001c0001t0027g0103
a0001c0001t0028g0107
a0001c0001t0029g0132
a0001c0001t0030g0159
a0001c0001t0031g0333
a0001c0001t0032g0216
a0001c0001t0033g0182
a0001c0001t0034g0185
a0001c0001t0035g0020
a0001c0001t0037g0166
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0026g0237
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0003g0014
a0001c0004t0003g0063
a0001c0004t0004g0048
a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0005g0042
a0001c0004t0005g0238
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0006t0005g0052
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0022t0005g0084
a0001c0023t0003g0291
a0001c0027t0003g0275
a0002c0005t0002g0057
a0004c0014t0004g0112
a0004c0014t0004g0113
a0005c0019t0007g0133
 167 HG00408.hp1
HG00408.hp2
HG00423.hp2
others(164): Show 
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG01069.hp2
HG01074.hp1
HG01099.hp1
HG01168.hp2
HG01169.hp1
HG01261.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01981.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02074.hp2
HG02080.hp2
HG02129.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03942.hp1
HG04115.hp2
HG04204.hp2
HG06807.hp1
NA18747.hp1
NA18747.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18973.hp2
NA18975.hp1
NA18979.hp1
NA18980.hp2
NA18983.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp1
NA19056.hp2
NA19058.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19088.hp1
NA19091.hp1
NA20129.hp1
NA20905.hp1
 intron_variant MODIFIER c.2312-1880T>C
c.2312-1880T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11126128
chr19:11126203 G
G
 A
A
 7 a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
others(4): Show 
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0006g0031
a0001c0003t0055g0320
a0001c0004t0003g0014
a0001c0027t0003g0275
 7 HG02145.hp1
HG02486.hp2
HG02896.hp1
others(4): Show 
HG02145.hp1
HG02486.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03130.hp1
HG03225.hp2
 intron_variant MODIFIER c.2312-1805G>A
c.2312-1805G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11126203
chr19:11126329 T
T
 C
C
 17 a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
others(14): Show 
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0036g0033
a0001c0004t0046g0046
a0001c0013t0009g0339
 18 HG01109.hp2
HG01952.hp1
HG02055.hp2
others(15): Show 
HG01109.hp2
HG01952.hp1
HG02055.hp2
HG02280.hp1
HG02486.hp1
HG02615.hp1
HG02717.hp2
HG02886.hp1
HG02895.hp1
HG02897.hp1
HG02970.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03453.hp1
NA18522.hp1
NA19240.hp1
 intron_variant MODIFIER c.2312-1679T>C
c.2312-1679T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11126329
chr19:11126343 C
C
 CA
CA
 69 a0001c0001t0001g0297
a0001c0001t0015g0298
a0001c0002t0001g0005
others(66): Show 
a0001c0001t0001g0297
a0001c0001t0015g0298
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0004t0001g0095
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
 74 HG00099.hp2
HG00423.hp1
HG00438.hp2
others(71): Show 
HG00099.hp2
HG00423.hp1
HG00438.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp2
HG01928.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02055.hp1
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02523.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02965.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18948.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18966.hp1
NA18971.hp2
NA18975.hp2
NA18992.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19009.hp2
NA19056.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19070.hp2
NA19085.hp2
NA19088.hp2
NA19091.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.2312-1656dupA
c.2312-1656dupA
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 INFO_REALIGN_3_PRIME chr19 11126343
chr19:11126359 A
A
 G
G
 2 a0001c0008t0008g0019
a0001c0008t0008g0029
a0001c0008t0008g0019
a0001c0008t0008g0029
 2 HG02451.hp1
NA19043.hp2
HG02451.hp1
NA19043.hp2
 intron_variant MODIFIER c.2312-1649A>G
c.2312-1649A>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11126359
chr19:11126380 C
C
 CT
CT
 72 a0001c0001t0001g0297
a0001c0001t0015g0298
a0001c0002t0001g0005
others(69): Show 
a0001c0001t0001g0297
a0001c0001t0015g0298
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0269
a0001c0004t0001g0095
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0266
a0001c0006t0006g0324
a0001c0006t0049g0062
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0002c0005t0002g0034
a0003c0011t0006g0323
 77 HG00099.hp2
HG00423.hp1
HG00438.hp2
others(74): Show 
HG00099.hp2
HG00423.hp1
HG00438.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG01071.hp1
HG01106.hp2
HG01109.hp1
HG01169.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp2
HG01928.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02523.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp2
HG02976.hp2
HG03195.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18948.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18966.hp1
NA18971.hp2
NA18992.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19009.hp2
NA19056.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19070.hp2
NA19079.hp2
NA19085.hp2
NA19088.hp2
NA19091.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.2312-1611dupT
c.2312-1611dupT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 INFO_REALIGN_3_PRIME chr19 11126380
chr19:11126380 C
C
 CTTTTTTT
CTTTTTTT
 20 a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0087
others(17): Show 
a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0092
a0001c0004t0004g0099
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0004g0285
a0001c0004t0039g0094
a0001c0013t0004g0041
a0001c0013t0004g0338
a0004c0014t0004g0112
a0004c0014t0004g0113
 20 HG00408.hp2
HG00544.hp2
HG01891.hp1
others(17): Show 
HG00408.hp2
HG00544.hp2
HG01891.hp1
HG01891.hp2
HG02015.hp1
HG02129.hp2
HG02257.hp1
HG02647.hp2
HG02735.hp1
HG02922.hp1
HG02976.hp1
HG03490.hp1
HG03540.hp1
HG03654.hp2
NA18939.hp1
NA18950.hp2
NA18969.hp1
NA18989.hp1
NA19004.hp1
NA19067.hp1
 intron_variant MODIFIER c.2312-1617_2312-161
others(11): Show 
c.2312-1617_2312-1611dupTTTTTTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 INFO_REALIGN_3_PRIME chr19 11126380
chr19:11126380 C
C
 CTTTTTTT
others(5): Show 
CTTTTTTTTTTTT
 25 a0001c0003t0003g0115
a0001c0003t0003g0119
a0001c0003t0003g0124
others(22): Show 
a0001c0003t0003g0115
a0001c0003t0003g0119
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0334
a0001c0003t0005g0294
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0057g0127
a0001c0003t0059g0129
a0001c0004t0003g0063
 25 HG00423.hp2
HG00544.hp1
HG00558.hp1
others(22): Show 
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG02074.hp2
HG02602.hp1
HG02809.hp2
HG03130.hp2
HG03516.hp1
HG03540.hp2
HG03688.hp2
HG03942.hp1
HG06807.hp1
NA18941.hp1
NA18942.hp2
NA18948.hp1
NA18967.hp1
NA18971.hp1
NA18979.hp1
NA19002.hp2
NA19007.hp1
NA19068.hp1
NA19074.hp1
NA19085.hp1
 intron_variant MODIFIER c.2312-1622_2312-161
others(16): Show 
c.2312-1622_2312-1611dupTTTTTTTTTTTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 INFO_REALIGN_3_PRIME chr19 11126380
chr19:11126380 C
C
 CTTTTTTT
others(6): Show 
CTTTTTTTTTTTTT
 17 a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
others(14): Show 
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0116
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0205
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0006g0031
a0001c0003t0026g0237
a0001c0003t0058g0293
a0001c0004t0003g0014
a0001c0023t0003g0291
a0001c0027t0003g0275
 17 HG00408.hp1
HG02145.hp1
HG02165.hp1
others(14): Show 
HG00408.hp1
HG02145.hp1
HG02165.hp1
HG02486.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03130.hp1
NA18939.hp2
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18964.hp2
NA18986.hp1
NA18989.hp2
NA19007.hp2
NA19080.hp2
 intron_variant MODIFIER c.2312-1623_2312-161
others(17): Show 
c.2312-1623_2312-1611dupTTTTTTTTTTTTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 INFO_REALIGN_3_PRIME chr19 11126380
chr19:11126380 C
C
 CTTTTTTT
others(8): Show 
CTTTTTTTTTTTTTTT
 2 a0001c0003t0003g0302
a0001c0003t0055g0320
a0001c0003t0003g0302
a0001c0003t0055g0320
 2 HG03225.hp2
NA19010.hp1
HG03225.hp2
NA19010.hp1
 intron_variant MODIFIER c.2312-1625_2312-161
others(19): Show 
c.2312-1625_2312-1611dupTTTTTTTTTTTTTTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 INFO_REALIGN_3_PRIME chr19 11126380
chr19:11126380 CT
CT
 C
C
 27 a0001c0001t0005g0162
a0001c0001t0033g0182
a0001c0001t0034g0185
others(24): Show 
a0001c0001t0005g0162
a0001c0001t0033g0182
a0001c0001t0034g0185
a0001c0002t0006g0043
a0001c0007t0020g0035
a0001c0007t0020g0318
a0001c0007t0020g0321
a0001c0008t0008g0002
a0001c0008t0008g0019
a0001c0008t0008g0029
a0001c0008t0008g0065
a0001c0008t0008g0167
a0001c0008t0008g0174
a0001c0008t0008g0175
a0001c0008t0008g0178
a0001c0008t0008g0183
a0001c0008t0008g0194
a0001c0008t0008g0214
a0001c0008t0008g0215
a0001c0008t0008g0296
a0001c0008t0047g0190
a0001c0021t0008g0287
a0001c0026t0008g0348
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
a0006c0024t0019g0346
 29 HG00558.hp2
HG01074.hp2
HG01167.hp1
others(26): Show 
HG00558.hp2
HG01074.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp2
HG01257.hp2
HG01261.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp1
HG01934.hp1
HG01981.hp2
HG02056.hp1
HG02300.hp2
HG02451.hp1
HG02818.hp1
HG02965.hp1
HG02970.hp1
HG03139.hp2
HG03579.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
NA18747.hp1
NA19043.hp1
NA19043.hp2
NA19074.hp2
NA20300.hp1
NA20805.hp2
 intron_variant MODIFIER c.2312-1611delT
c.2312-1611delT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 INFO_REALIGN_3_PRIME chr19 11126380
chr19:11126380 CTT
CTT
 C
C
 90 a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
others(87): Show 
a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
a0001c0001t0005g0172
a0001c0001t0005g0179
a0001c0001t0005g0184
a0001c0001t0005g0192
a0001c0001t0005g0240
a0001c0001t0005g0249
a0001c0001t0005g0258
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0078
a0001c0001t0007g0079
a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0134
a0001c0001t0007g0157
a0001c0001t0007g0171
a0001c0001t0007g0176
a0001c0001t0007g0250
a0001c0001t0007g0251
a0001c0001t0007g0262
a0001c0001t0007g0273
a0001c0001t0007g0303
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0007g0306
a0001c0001t0007g0307
a0001c0001t0007g0308
a0001c0001t0007g0310
a0001c0001t0010g0072
a0001c0001t0010g0217
a0001c0001t0010g0239
a0001c0001t0010g0244
a0001c0001t0010g0245
a0001c0001t0010g0248
a0001c0001t0010g0259
a0001c0001t0010g0265
a0001c0001t0011g0156
a0001c0001t0011g0242
a0001c0001t0011g0246
a0001c0001t0011g0254
a0001c0001t0012g0071
a0001c0001t0012g0136
a0001c0001t0012g0158
a0001c0001t0012g0161
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0013g0319
a0001c0001t0016g0104
a0001c0001t0016g0108
a0001c0001t0016g0109
a0001c0001t0022g0243
a0001c0001t0023g0051
a0001c0001t0027g0103
a0001c0001t0028g0107
a0001c0001t0029g0132
a0001c0001t0030g0159
a0001c0001t0031g0333
a0001c0001t0032g0216
a0001c0001t0035g0020
a0001c0001t0037g0166
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0004t0005g0042
a0001c0004t0005g0238
a0001c0006t0005g0052
a0001c0008t0008g0013
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0022t0005g0084
a0005c0019t0007g0133
 91 HG00597.hp2
HG00621.hp2
HG00642.hp2
others(88): Show 
HG00597.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG01069.hp2
HG01074.hp1
HG01099.hp1
HG01168.hp2
HG01169.hp1
HG01261.hp2
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02080.hp2
HG02148.hp1
HG02155.hp1
HG02258.hp1
HG02273.hp2
HG02523.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp2
HG04204.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18950.hp1
NA18953.hp1
NA18954.hp1
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18964.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18973.hp2
NA18975.hp1
NA18980.hp2
NA18983.hp2
NA18986.hp2
NA18990.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19011.hp1
NA19056.hp2
NA19058.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19079.hp1
NA19083.hp1
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA20905.hp1
 intron_variant MODIFIER c.2312-1612_2312-161
others(6): Show 
c.2312-1612_2312-1611delTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 INFO_REALIGN_3_PRIME chr19 11126380
chr19:11126592 C
C
 A
A
 2 a0001c0006t0006g0324
a0001c0006t0006g0327
a0001c0006t0006g0324
a0001c0006t0006g0327
 2 HG01167.hp2
HG01169.hp2
HG01167.hp2
HG01169.hp2
 intron_variant MODIFIER c.2312-1416C>A
c.2312-1416C>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11126592
chr19:11126592 C
C
 T
T
 1 a0006c0024t0019g0346
a0006c0024t0019g0346
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.2312-1416C>T
c.2312-1416C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11126592
chr19:11126593 G
G
 A
A
 93 a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
others(90): Show 
a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
a0001c0001t0005g0162
a0001c0001t0005g0172
a0001c0001t0005g0179
a0001c0001t0005g0184
a0001c0001t0005g0192
a0001c0001t0005g0240
a0001c0001t0005g0249
a0001c0001t0005g0258
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0078
a0001c0001t0007g0079
a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0134
a0001c0001t0007g0157
a0001c0001t0007g0171
a0001c0001t0007g0176
a0001c0001t0007g0250
a0001c0001t0007g0251
a0001c0001t0007g0262
a0001c0001t0007g0273
a0001c0001t0007g0303
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0007g0306
a0001c0001t0007g0307
a0001c0001t0007g0308
a0001c0001t0007g0310
a0001c0001t0010g0072
a0001c0001t0010g0217
a0001c0001t0010g0239
a0001c0001t0010g0244
a0001c0001t0010g0245
a0001c0001t0010g0248
a0001c0001t0010g0259
a0001c0001t0010g0265
a0001c0001t0011g0073
a0001c0001t0011g0156
a0001c0001t0011g0242
a0001c0001t0011g0246
a0001c0001t0011g0254
a0001c0001t0012g0071
a0001c0001t0012g0136
a0001c0001t0012g0158
a0001c0001t0012g0161
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0013g0319
a0001c0001t0016g0104
a0001c0001t0016g0108
a0001c0001t0016g0109
a0001c0001t0022g0243
a0001c0001t0023g0051
a0001c0001t0027g0103
a0001c0001t0028g0107
a0001c0001t0029g0132
a0001c0001t0030g0159
a0001c0001t0031g0333
a0001c0001t0032g0216
a0001c0001t0033g0182
a0001c0001t0034g0185
a0001c0001t0035g0020
a0001c0001t0037g0166
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0004t0005g0042
a0001c0004t0005g0238
a0001c0006t0005g0052
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0022t0005g0084
a0005c0019t0007g0133
 94 HG00558.hp2
HG00597.hp2
HG00621.hp2
others(91): Show 
HG00558.hp2
HG00597.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG01069.hp2
HG01074.hp1
HG01099.hp1
HG01168.hp2
HG01169.hp1
HG01261.hp2
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02080.hp2
HG02148.hp1
HG02155.hp1
HG02258.hp1
HG02273.hp2
HG02523.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp2
HG04204.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18950.hp1
NA18953.hp1
NA18954.hp1
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18964.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18973.hp2
NA18975.hp1
NA18980.hp2
NA18983.hp2
NA18986.hp2
NA18990.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19011.hp1
NA19056.hp2
NA19058.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19083.hp1
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA20905.hp1
 intron_variant MODIFIER c.2312-1415G>A
c.2312-1415G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11126593
chr19:11126620 T
T
 C
C
 165 a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
others(162): Show 
a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
a0001c0001t0005g0162
a0001c0001t0005g0172
a0001c0001t0005g0179
a0001c0001t0005g0184
a0001c0001t0005g0192
a0001c0001t0005g0240
a0001c0001t0005g0249
a0001c0001t0005g0258
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0078
a0001c0001t0007g0079
a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0134
a0001c0001t0007g0157
a0001c0001t0007g0171
a0001c0001t0007g0176
a0001c0001t0007g0250
a0001c0001t0007g0251
a0001c0001t0007g0262
a0001c0001t0007g0273
a0001c0001t0007g0303
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0007g0306
a0001c0001t0007g0307
a0001c0001t0007g0308
a0001c0001t0007g0310
a0001c0001t0010g0072
a0001c0001t0010g0217
a0001c0001t0010g0239
a0001c0001t0010g0244
a0001c0001t0010g0245
a0001c0001t0010g0248
a0001c0001t0010g0259
a0001c0001t0010g0265
a0001c0001t0011g0073
a0001c0001t0011g0156
a0001c0001t0011g0242
a0001c0001t0011g0246
a0001c0001t0011g0254
a0001c0001t0012g0071
a0001c0001t0012g0136
a0001c0001t0012g0158
a0001c0001t0012g0161
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0013g0319
a0001c0001t0016g0104
a0001c0001t0016g0108
a0001c0001t0016g0109
a0001c0001t0022g0243
a0001c0001t0023g0051
a0001c0001t0027g0103
a0001c0001t0028g0107
a0001c0001t0029g0132
a0001c0001t0030g0159
a0001c0001t0031g0333
a0001c0001t0032g0216
a0001c0001t0033g0182
a0001c0001t0034g0185
a0001c0001t0035g0020
a0001c0001t0037g0166
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0026g0237
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0003g0014
a0001c0004t0003g0063
a0001c0004t0004g0048
a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0005g0042
a0001c0004t0005g0238
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0006t0005g0052
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0022t0005g0084
a0001c0023t0003g0291
a0001c0027t0003g0275
a0004c0014t0004g0112
a0004c0014t0004g0113
a0005c0019t0007g0133
 166 HG00408.hp1
HG00408.hp2
HG00423.hp2
others(163): Show 
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG01069.hp2
HG01074.hp1
HG01099.hp1
HG01168.hp2
HG01169.hp1
HG01261.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01981.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02074.hp2
HG02080.hp2
HG02129.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03942.hp1
HG04115.hp2
HG04204.hp2
HG06807.hp1
NA18747.hp1
NA18747.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18973.hp2
NA18975.hp1
NA18979.hp1
NA18980.hp2
NA18983.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp1
NA19056.hp2
NA19058.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19088.hp1
NA19091.hp1
NA20129.hp1
NA20905.hp1
 intron_variant MODIFIER c.2312-1388T>C
c.2312-1388T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11126620
chr19:11126648 T
T
 A
A
 72 a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
others(69): Show 
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0026g0237
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0003g0014
a0001c0004t0003g0063
a0001c0004t0004g0048
a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0023t0003g0291
a0001c0027t0003g0275
a0004c0014t0004g0112
a0004c0014t0004g0113
 72 HG00408.hp1
HG00408.hp2
HG00423.hp2
others(69): Show 
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG01891.hp1
HG01891.hp2
HG02015.hp1
HG02074.hp2
HG02129.hp2
HG02145.hp1
HG02165.hp1
HG02257.hp1
HG02486.hp2
HG02602.hp1
HG02647.hp2
HG02735.hp1
HG02809.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp2
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03688.hp2
HG03942.hp1
HG06807.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18964.hp2
NA18967.hp1
NA18969.hp1
NA18971.hp1
NA18979.hp1
NA18985.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA19002.hp2
NA19004.hp1
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp1
NA19080.hp2
NA19085.hp1
NA20129.hp1
 intron_variant MODIFIER c.2312-1360T>A
c.2312-1360T>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11126648
chr19:11126781 A
A
 G
G
 1 a0001c0009t0040g0027
a0001c0009t0040g0027
 1 HG03669.hp2
HG03669.hp2
 intron_variant MODIFIER c.2312-1227A>G
c.2312-1227A>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11126781
chr19:11126885 C
C
 T
T
 13 a0001c0001t0005g0172
a0001c0001t0005g0184
a0001c0001t0005g0192
others(10): Show 
a0001c0001t0005g0172
a0001c0001t0005g0184
a0001c0001t0005g0192
a0001c0001t0010g0259
a0001c0001t0031g0333
a0001c0001t0034g0185
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0006g0031
a0001c0003t0055g0320
a0001c0004t0003g0014
a0001c0027t0003g0275
 13 HG00621.hp2
HG02145.hp1
HG02486.hp2
others(10): Show 
HG00621.hp2
HG02145.hp1
HG02486.hp2
HG02698.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03130.hp1
HG03225.hp2
NA18747.hp1
NA19005.hp1
NA19088.hp1
NA20905.hp1
 intron_variant MODIFIER c.2312-1123C>T
c.2312-1123C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11126885
chr19:11126934 C
C
 CT
CT
 22 a0001c0001t0021g0008
a0001c0004t0006g0145
a0001c0004t0009g0003
others(19): Show 
a0001c0001t0021g0008
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0018g0120
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0046g0046
a0001c0007t0001g0165
a0001c0007t0001g0181
a0001c0007t0001g0224
a0001c0007t0002g0271
a0001c0007t0020g0318
a0001c0013t0009g0339
 24 HG01081.hp2
HG01099.hp2
HG01109.hp2
others(21): Show 
HG01081.hp2
HG01099.hp2
HG01109.hp2
HG01952.hp1
HG02055.hp2
HG02280.hp1
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02630.hp2
HG02717.hp2
HG02886.hp1
HG02895.hp1
HG02897.hp1
HG02970.hp1
HG02970.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03453.hp1
HG04184.hp2
NA18957.hp1
NA19240.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2312-1052dupT
c.2312-1052dupT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 INFO_REALIGN_3_PRIME chr19 11126934
chr19:11126934 CT
CT
 C
C
 29 a0001c0002t0001g0186
a0001c0002t0001g0230
a0001c0002t0001g0233
others(26): Show 
a0001c0002t0001g0186
a0001c0002t0001g0230
a0001c0002t0001g0233
a0001c0002t0001g0255
a0001c0006t0006g0061
a0001c0006t0006g0077
a0001c0006t0006g0083
a0001c0006t0006g0098
a0001c0006t0006g0309
a0001c0006t0006g0325
a0001c0006t0006g0326
a0001c0006t0006g0327
a0001c0006t0006g0329
a0001c0006t0006g0330
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0006t0006g0335
a0001c0006t0050g0311
a0001c0006t0051g0337
a0001c0007t0002g0169
a0001c0007t0052g0177
a0001c0008t0008g0175
a0001c0008t0008g0296
a0002c0005t0002g0028
a0002c0005t0002g0039
a0002c0005t0002g0155
a0002c0005t0002g0317
a0003c0011t0006g0323
a0003c0011t0006g0328
 29 HG00438.hp2
HG01081.hp1
HG01106.hp1
others(26): Show 
HG00438.hp2
HG01081.hp1
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01358.hp2
HG01496.hp1
HG01496.hp2
HG01975.hp1
HG02074.hp1
HG02148.hp2
HG02165.hp2
HG02451.hp2
HG02738.hp1
HG02976.hp2
HG03017.hp2
HG03471.hp2
HG03704.hp2
NA18522.hp2
NA18906.hp1
NA18940.hp1
NA18954.hp2
NA18973.hp1
NA18983.hp1
NA18985.hp1
NA18992.hp2
NA19011.hp2
NA19064.hp1
NA19079.hp2
 intron_variant MODIFIER c.2312-1052delT
c.2312-1052delT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 INFO_REALIGN_3_PRIME chr19 11126934
chr19:11126934 CTTTT
CTTTT
 C
C
 94 a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
others(91): Show 
a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
a0001c0001t0005g0162
a0001c0001t0005g0172
a0001c0001t0005g0179
a0001c0001t0005g0184
a0001c0001t0005g0192
a0001c0001t0005g0240
a0001c0001t0005g0249
a0001c0001t0005g0258
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0078
a0001c0001t0007g0079
a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0157
a0001c0001t0007g0171
a0001c0001t0007g0176
a0001c0001t0007g0250
a0001c0001t0007g0251
a0001c0001t0007g0262
a0001c0001t0007g0273
a0001c0001t0007g0303
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0007g0306
a0001c0001t0007g0307
a0001c0001t0007g0308
a0001c0001t0007g0310
a0001c0001t0010g0072
a0001c0001t0010g0217
a0001c0001t0010g0239
a0001c0001t0010g0244
a0001c0001t0010g0245
a0001c0001t0010g0248
a0001c0001t0010g0259
a0001c0001t0010g0265
a0001c0001t0011g0073
a0001c0001t0011g0156
a0001c0001t0011g0242
a0001c0001t0011g0246
a0001c0001t0011g0254
a0001c0001t0012g0071
a0001c0001t0012g0136
a0001c0001t0012g0158
a0001c0001t0012g0161
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0013g0319
a0001c0001t0016g0104
a0001c0001t0016g0108
a0001c0001t0016g0109
a0001c0001t0022g0243
a0001c0001t0023g0051
a0001c0001t0027g0103
a0001c0001t0028g0107
a0001c0001t0029g0132
a0001c0001t0030g0159
a0001c0001t0031g0333
a0001c0001t0032g0216
a0001c0001t0033g0182
a0001c0001t0034g0185
a0001c0001t0035g0020
a0001c0001t0037g0166
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0003t0003g0115
a0001c0003t0003g0128
a0001c0003t0003g0143
a0001c0003t0003g0288
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0004t0005g0042
a0001c0004t0005g0238
a0001c0006t0005g0052
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0011g0026
a0001c0022t0005g0084
a0005c0019t0007g0133
 95 HG00558.hp1
HG00558.hp2
HG00597.hp2
others(92): Show 
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG01069.hp2
HG01074.hp1
HG01099.hp1
HG01168.hp2
HG01169.hp1
HG01261.hp2
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02080.hp2
HG02148.hp1
HG02155.hp1
HG02258.hp1
HG02273.hp2
HG02523.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03654.hp1
HG03688.hp1
HG03831.hp1
HG04115.hp2
HG04204.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18950.hp1
NA18953.hp1
NA18954.hp1
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18964.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18973.hp2
NA18975.hp1
NA18980.hp2
NA18983.hp2
NA18986.hp2
NA18990.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19005.hp1
NA19009.hp1
NA19011.hp1
NA19056.hp2
NA19058.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19088.hp1
NA19091.hp1
NA20905.hp1
 intron_variant MODIFIER c.2312-1055_2312-105
others(8): Show 
c.2312-1055_2312-1052delTTTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 INFO_REALIGN_3_PRIME chr19 11126934
chr19:11126934 CTTTTT
CTTTTT
 C
C
 62 a0001c0001t0007g0134
a0001c0003t0003g0068
a0001c0003t0003g0116
others(59): Show 
a0001c0001t0007g0134
a0001c0003t0003g0068
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0131
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0026g0237
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0003g0014
a0001c0004t0003g0063
a0001c0004t0004g0048
a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0023t0003g0291
a0004c0014t0004g0112
a0004c0014t0004g0113
 62 HG00408.hp1
HG00408.hp2
HG00423.hp2
others(59): Show 
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG01891.hp1
HG01891.hp2
HG02074.hp2
HG02129.hp2
HG02145.hp1
HG02165.hp1
HG02257.hp1
HG02647.hp2
HG02735.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG03130.hp2
HG03225.hp2
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03688.hp2
HG03942.hp1
HG06807.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18979.hp1
NA18985.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA19002.hp2
NA19004.hp1
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp1
NA19080.hp2
NA20129.hp1
 intron_variant MODIFIER c.2312-1056_2312-105
others(9): Show 
c.2312-1056_2312-1052delTTTTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 INFO_REALIGN_3_PRIME chr19 11126934
chr19:11126934 CTTTTTT
CTTTTTT
 C
C
 6 a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
others(3): Show 
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0006g0031
a0001c0004t0004g0087
a0001c0027t0003g0275
 6 HG02015.hp1
HG02486.hp2
HG02896.hp1
others(3): Show 
HG02015.hp1
HG02486.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03130.hp1
 intron_variant MODIFIER c.2312-1057_2312-105
others(10): Show 
c.2312-1057_2312-1052delTTTTTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 INFO_REALIGN_3_PRIME chr19 11126934
chr19:11126938 T
T
 C
C
 1 a0001c0006t0051g0337
a0001c0006t0051g0337
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.2312-1070T>C
c.2312-1070T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11126938
chr19:11127096 A
A
 G
G
 239 a0001c0001t0001g0297
a0001c0001t0005g0007
a0001c0001t0005g0060
others(236): Show 
a0001c0001t0001g0297
a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
a0001c0001t0005g0162
a0001c0001t0005g0172
a0001c0001t0005g0179
a0001c0001t0005g0184
a0001c0001t0005g0192
a0001c0001t0005g0240
a0001c0001t0005g0249
a0001c0001t0005g0258
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0078
a0001c0001t0007g0079
a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0134
a0001c0001t0007g0157
a0001c0001t0007g0171
a0001c0001t0007g0176
a0001c0001t0007g0250
a0001c0001t0007g0251
a0001c0001t0007g0262
a0001c0001t0007g0273
a0001c0001t0007g0303
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0007g0306
a0001c0001t0007g0307
a0001c0001t0007g0308
a0001c0001t0007g0310
a0001c0001t0010g0072
a0001c0001t0010g0217
a0001c0001t0010g0239
a0001c0001t0010g0244
a0001c0001t0010g0245
a0001c0001t0010g0248
a0001c0001t0010g0259
a0001c0001t0010g0265
a0001c0001t0011g0073
a0001c0001t0011g0156
a0001c0001t0011g0242
a0001c0001t0011g0246
a0001c0001t0011g0254
a0001c0001t0012g0071
a0001c0001t0012g0136
a0001c0001t0012g0158
a0001c0001t0012g0161
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0013g0319
a0001c0001t0015g0298
a0001c0001t0016g0104
a0001c0001t0016g0108
a0001c0001t0016g0109
a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0001t0022g0243
a0001c0001t0023g0051
a0001c0001t0027g0103
a0001c0001t0028g0107
a0001c0001t0029g0132
a0001c0001t0030g0159
a0001c0001t0031g0333
a0001c0001t0032g0216
a0001c0001t0033g0182
a0001c0001t0034g0185
a0001c0001t0035g0020
a0001c0001t0037g0166
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0026g0237
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0001g0095
a0001c0004t0003g0014
a0001c0004t0003g0063
a0001c0004t0004g0048
a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0005g0042
a0001c0004t0005g0238
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0006t0005g0052
a0001c0006t0048g0016
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0018t0024g0047
a0001c0018t0024g0322
a0001c0022t0005g0084
a0001c0023t0003g0291
a0001c0027t0003g0275
a0004c0014t0004g0112
a0004c0014t0004g0113
a0005c0019t0007g0133
 246 HG00099.hp2
HG00408.hp1
HG00408.hp2
others(243): Show 
HG00099.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp2
HG01071.hp1
HG01074.hp1
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01261.hp2
HG01358.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18979.hp1
NA18980.hp2
NA18983.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.2312-912A>G
c.2312-912A>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11127096
chr19:11127188 C
C
 G
G
 23 a0001c0007t0020g0035
a0001c0007t0020g0318
a0001c0007t0020g0321
others(20): Show 
a0001c0007t0020g0035
a0001c0007t0020g0318
a0001c0007t0020g0321
a0001c0008t0008g0002
a0001c0008t0008g0013
a0001c0008t0008g0019
a0001c0008t0008g0029
a0001c0008t0008g0065
a0001c0008t0008g0167
a0001c0008t0008g0174
a0001c0008t0008g0175
a0001c0008t0008g0178
a0001c0008t0008g0183
a0001c0008t0008g0194
a0001c0008t0008g0214
a0001c0008t0008g0215
a0001c0008t0008g0296
a0001c0008t0047g0190
a0001c0021t0008g0287
a0001c0026t0008g0348
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
 25 HG01074.hp2
HG01167.hp1
HG01168.hp1
others(22): Show 
HG01074.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp2
HG01257.hp2
HG01261.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp1
HG01934.hp1
HG01981.hp2
HG02056.hp1
HG02300.hp2
HG02451.hp1
HG02818.hp1
HG02970.hp1
HG03139.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
NA18906.hp2
NA19043.hp1
NA19043.hp2
NA20300.hp1
NA20805.hp2
 intron_variant MODIFIER c.2312-820C>G
c.2312-820C>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11127188
chr19:11127238 C
C
 CT
CT
 114 a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
others(111): Show 
a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
a0001c0001t0005g0162
a0001c0001t0005g0179
a0001c0001t0005g0184
a0001c0001t0005g0240
a0001c0001t0005g0249
a0001c0001t0005g0258
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0078
a0001c0001t0007g0079
a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0134
a0001c0001t0007g0157
a0001c0001t0007g0171
a0001c0001t0007g0176
a0001c0001t0007g0250
a0001c0001t0007g0251
a0001c0001t0007g0262
a0001c0001t0007g0273
a0001c0001t0007g0303
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0007g0306
a0001c0001t0007g0307
a0001c0001t0007g0310
a0001c0001t0010g0072
a0001c0001t0010g0217
a0001c0001t0010g0239
a0001c0001t0010g0245
a0001c0001t0010g0248
a0001c0001t0010g0259
a0001c0001t0010g0265
a0001c0001t0011g0156
a0001c0001t0011g0242
a0001c0001t0011g0254
a0001c0001t0012g0071
a0001c0001t0012g0136
a0001c0001t0012g0158
a0001c0001t0012g0161
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0013g0319
a0001c0001t0016g0104
a0001c0001t0016g0108
a0001c0001t0016g0109
a0001c0001t0022g0243
a0001c0001t0023g0051
a0001c0001t0027g0103
a0001c0001t0028g0107
a0001c0001t0029g0132
a0001c0001t0030g0159
a0001c0001t0031g0333
a0001c0001t0032g0216
a0001c0001t0033g0182
a0001c0001t0034g0185
a0001c0001t0035g0020
a0001c0002t0001g0220
a0001c0002t0001g0227
a0001c0002t0001g0231
a0001c0002t0001g0236
a0001c0002t0001g0255
a0001c0002t0001g0270
a0001c0002t0012g0059
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0003t0003g0164
a0001c0003t0003g0302
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0025g0022
a0001c0003t0026g0064
a0001c0004t0004g0067
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0005g0042
a0001c0004t0005g0238
a0001c0004t0038g0036
a0001c0006t0005g0052
a0001c0006t0006g0038
a0001c0006t0006g0098
a0001c0006t0006g0266
a0001c0006t0006g0309
a0001c0006t0006g0331
a0001c0006t0006g0332
a0001c0007t0002g0170
a0001c0007t0002g0191
a0001c0007t0041g0193
a0001c0009t0040g0027
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0015t0002g0049
a0001c0020t0056g0264
a0001c0022t0005g0084
a0002c0005t0002g0028
a0002c0005t0002g0039
a0002c0005t0002g0057
a0005c0019t0007g0133
 115 HG00558.hp2
HG00597.hp1
HG00597.hp2
others(112): Show 
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG01074.hp1
HG01099.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01261.hp2
HG01358.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01934.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02080.hp2
HG02148.hp1
HG02155.hp1
HG02258.hp1
HG02273.hp2
HG02451.hp2
HG02523.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02896.hp2
HG02965.hp2
HG03017.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04184.hp1
HG04204.hp2
HG04228.hp1
NA18747.hp1
NA18747.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18950.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18964.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18979.hp2
NA18980.hp2
NA18983.hp2
NA18986.hp2
NA18990.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19004.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19058.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19083.hp1
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA20905.hp1
 intron_variant MODIFIER c.2312-754dupT
c.2312-754dupT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 INFO_REALIGN_3_PRIME chr19 11127238
chr19:11127238 C
C
 CTT
CTT
 11 a0001c0001t0005g0172
a0001c0001t0005g0192
a0001c0001t0007g0308
others(8): Show 
a0001c0001t0005g0172
a0001c0001t0005g0192
a0001c0001t0007g0308
a0001c0001t0010g0244
a0001c0001t0011g0073
a0001c0001t0011g0246
a0001c0001t0037g0166
a0001c0002t0014g0207
a0001c0003t0005g0140
a0001c0004t0004g0285
a0002c0005t0002g0034
 11 HG00621.hp2
HG00642.hp2
HG01069.hp2
others(8): Show 
HG00621.hp2
HG00642.hp2
HG01069.hp2
HG02257.hp1
HG02886.hp2
HG03471.hp1
HG04115.hp2
NA19005.hp1
NA19009.hp1
NA19056.hp2
NA19080.hp1
 intron_variant MODIFIER c.2312-755_2312-754d
others(4): Show 
c.2312-755_2312-754dupTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 INFO_REALIGN_3_PRIME chr19 11127238
chr19:11127238 CT
CT
 C
C
 42 a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0004t0009g0003
others(39): Show 
a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0036g0033
a0001c0004t0046g0046
a0001c0006t0048g0016
a0001c0007t0020g0035
a0001c0007t0020g0318
a0001c0007t0020g0321
a0001c0008t0008g0002
a0001c0008t0008g0013
a0001c0008t0008g0019
a0001c0008t0008g0029
a0001c0008t0008g0065
a0001c0008t0008g0167
a0001c0008t0008g0175
a0001c0008t0008g0178
a0001c0008t0008g0183
a0001c0008t0008g0194
a0001c0008t0008g0214
a0001c0008t0008g0215
a0001c0008t0008g0296
a0001c0008t0047g0190
a0001c0013t0009g0339
a0001c0018t0024g0047
a0001c0018t0024g0322
a0001c0026t0008g0348
a0006c0024t0019g0346
 46 HG01074.hp2
HG01109.hp2
HG01167.hp1
others(43): Show 
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp2
HG01257.hp2
HG01261.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp1
HG01952.hp1
HG02280.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02630.hp2
HG02717.hp2
HG02723.hp1
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03453.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
NA18522.hp1
NA18906.hp2
NA18957.hp1
NA18980.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.2312-754delT
c.2312-754delT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 INFO_REALIGN_3_PRIME chr19 11127238
chr19:11127238 CTTTTTT
CTTTTTT
 C
C
 18 a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
others(15): Show 
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0039g0094
 18 HG00408.hp2
HG00544.hp2
HG02015.hp1
others(15): Show 
HG00408.hp2
HG00544.hp2
HG02015.hp1
HG02129.hp2
HG02735.hp1
HG03490.hp1
HG03654.hp2
NA18939.hp1
NA18941.hp2
NA18950.hp2
NA18969.hp1
NA18985.hp2
NA18989.hp1
NA18990.hp1
NA19004.hp1
NA19010.hp2
NA19012.hp1
NA19067.hp1
 intron_variant MODIFIER c.2312-759_2312-754d
others(8): Show 
c.2312-759_2312-754delTTTTTT
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 INFO_REALIGN_3_PRIME chr19 11127238
chr19:11127299 C
C
 T
T
 3 a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
 3 HG02055.hp1
HG02965.hp1
NA20129.hp2
HG02055.hp1
HG02965.hp1
NA20129.hp2
 intron_variant MODIFIER c.2312-709C>T
c.2312-709C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11127299
chr19:11127563 C
C
 G
G
 238 a0001c0001t0001g0297
a0001c0001t0005g0007
a0001c0001t0005g0060
others(235): Show 
a0001c0001t0001g0297
a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
a0001c0001t0005g0162
a0001c0001t0005g0172
a0001c0001t0005g0179
a0001c0001t0005g0184
a0001c0001t0005g0192
a0001c0001t0005g0240
a0001c0001t0005g0249
a0001c0001t0005g0258
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0078
a0001c0001t0007g0079
a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0134
a0001c0001t0007g0157
a0001c0001t0007g0171
a0001c0001t0007g0176
a0001c0001t0007g0250
a0001c0001t0007g0251
a0001c0001t0007g0262
a0001c0001t0007g0273
a0001c0001t0007g0303
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0007g0306
a0001c0001t0007g0307
a0001c0001t0007g0308
a0001c0001t0007g0310
a0001c0001t0010g0072
a0001c0001t0010g0217
a0001c0001t0010g0239
a0001c0001t0010g0244
a0001c0001t0010g0245
a0001c0001t0010g0248
a0001c0001t0010g0259
a0001c0001t0010g0265
a0001c0001t0011g0073
a0001c0001t0011g0156
a0001c0001t0011g0242
a0001c0001t0011g0246
a0001c0001t0011g0254
a0001c0001t0012g0071
a0001c0001t0012g0136
a0001c0001t0012g0158
a0001c0001t0012g0161
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0013g0319
a0001c0001t0015g0298
a0001c0001t0016g0104
a0001c0001t0016g0108
a0001c0001t0016g0109
a0001c0001t0022g0243
a0001c0001t0023g0051
a0001c0001t0027g0103
a0001c0001t0028g0107
a0001c0001t0029g0132
a0001c0001t0030g0159
a0001c0001t0031g0333
a0001c0001t0032g0216
a0001c0001t0033g0182
a0001c0001t0034g0185
a0001c0001t0035g0020
a0001c0001t0037g0166
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0026g0237
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0001g0095
a0001c0004t0003g0014
a0001c0004t0003g0063
a0001c0004t0004g0048
a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0005g0042
a0001c0004t0005g0238
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0006t0005g0052
a0001c0007t0001g0165
a0001c0007t0001g0180
a0001c0007t0001g0181
a0001c0007t0001g0224
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0022t0005g0084
a0001c0023t0003g0291
a0001c0027t0003g0275
a0004c0014t0004g0112
a0004c0014t0004g0113
a0005c0019t0007g0133
 244 HG00099.hp1
HG00099.hp2
HG00408.hp1
others(241): Show 
HG00099.hp1
HG00099.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp2
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01261.hp2
HG01358.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18979.hp1
NA18980.hp2
NA18983.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2312-445C>G
c.2312-445C>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11127563
chr19:11127652 G
G
 A
A
 3 a0001c0003t0003g0119
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0119
a0001c0003t0003g0163
a0001c0003t0003g0164
 3 HG02809.hp2
HG03516.hp1
HG03540.hp2
HG02809.hp2
HG03516.hp1
HG03540.hp2
 intron_variant MODIFIER c.2312-356G>A
c.2312-356G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11127652
chr19:11127723 G
G
 A
A
 94 a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
others(91): Show 
a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
a0001c0001t0005g0162
a0001c0001t0005g0172
a0001c0001t0005g0179
a0001c0001t0005g0184
a0001c0001t0005g0192
a0001c0001t0005g0240
a0001c0001t0005g0249
a0001c0001t0005g0258
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0078
a0001c0001t0007g0079
a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0134
a0001c0001t0007g0157
a0001c0001t0007g0171
a0001c0001t0007g0176
a0001c0001t0007g0250
a0001c0001t0007g0251
a0001c0001t0007g0262
a0001c0001t0007g0273
a0001c0001t0007g0303
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0007g0306
a0001c0001t0007g0307
a0001c0001t0007g0308
a0001c0001t0007g0310
a0001c0001t0010g0072
a0001c0001t0010g0217
a0001c0001t0010g0239
a0001c0001t0010g0244
a0001c0001t0010g0245
a0001c0001t0010g0248
a0001c0001t0010g0259
a0001c0001t0010g0265
a0001c0001t0011g0073
a0001c0001t0011g0156
a0001c0001t0011g0242
a0001c0001t0011g0246
a0001c0001t0011g0254
a0001c0001t0012g0071
a0001c0001t0012g0136
a0001c0001t0012g0158
a0001c0001t0012g0161
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0013g0319
a0001c0001t0016g0104
a0001c0001t0016g0108
a0001c0001t0016g0109
a0001c0001t0022g0243
a0001c0001t0023g0051
a0001c0001t0027g0103
a0001c0001t0028g0107
a0001c0001t0029g0132
a0001c0001t0030g0159
a0001c0001t0031g0333
a0001c0001t0032g0216
a0001c0001t0033g0182
a0001c0001t0034g0185
a0001c0001t0035g0020
a0001c0001t0037g0166
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0004t0005g0042
a0001c0004t0005g0238
a0001c0006t0005g0052
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0022t0005g0084
a0005c0019t0007g0133
 95 HG00558.hp2
HG00597.hp2
HG00621.hp2
others(92): Show 
HG00558.hp2
HG00597.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG01069.hp2
HG01074.hp1
HG01099.hp1
HG01168.hp2
HG01169.hp1
HG01261.hp2
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02080.hp2
HG02148.hp1
HG02155.hp1
HG02258.hp1
HG02273.hp2
HG02523.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp2
HG04204.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18950.hp1
NA18953.hp1
NA18954.hp1
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18964.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18973.hp2
NA18975.hp1
NA18980.hp2
NA18983.hp2
NA18986.hp2
NA18990.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19011.hp1
NA19056.hp2
NA19058.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19083.hp1
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA20905.hp1
 intron_variant MODIFIER c.2312-285G>A
c.2312-285G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11127723
chr19:11127797 A
A
 C
C
 210 a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
others(207): Show 
a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
a0001c0001t0005g0162
a0001c0001t0005g0172
a0001c0001t0005g0179
a0001c0001t0005g0184
a0001c0001t0005g0192
a0001c0001t0005g0240
a0001c0001t0005g0249
a0001c0001t0005g0258
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0078
a0001c0001t0007g0079
a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0134
a0001c0001t0007g0157
a0001c0001t0007g0171
a0001c0001t0007g0176
a0001c0001t0007g0250
a0001c0001t0007g0251
a0001c0001t0007g0262
a0001c0001t0007g0273
a0001c0001t0007g0303
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0007g0306
a0001c0001t0007g0307
a0001c0001t0007g0308
a0001c0001t0007g0310
a0001c0001t0010g0072
a0001c0001t0010g0217
a0001c0001t0010g0239
a0001c0001t0010g0244
a0001c0001t0010g0245
a0001c0001t0010g0248
a0001c0001t0010g0259
a0001c0001t0010g0265
a0001c0001t0011g0073
a0001c0001t0011g0156
a0001c0001t0011g0242
a0001c0001t0011g0246
a0001c0001t0011g0254
a0001c0001t0012g0071
a0001c0001t0012g0136
a0001c0001t0012g0158
a0001c0001t0012g0161
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0013g0319
a0001c0001t0016g0104
a0001c0001t0016g0108
a0001c0001t0016g0109
a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0001t0022g0243
a0001c0001t0023g0051
a0001c0001t0027g0103
a0001c0001t0028g0107
a0001c0001t0029g0132
a0001c0001t0030g0159
a0001c0001t0031g0333
a0001c0001t0032g0216
a0001c0001t0033g0182
a0001c0001t0034g0185
a0001c0001t0035g0020
a0001c0001t0037g0166
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0026g0237
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0003g0014
a0001c0004t0003g0063
a0001c0004t0004g0048
a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0005g0042
a0001c0004t0005g0238
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0036g0033
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0004t0046g0046
a0001c0006t0005g0052
a0001c0006t0048g0016
a0001c0007t0020g0035
a0001c0007t0020g0318
a0001c0007t0020g0321
a0001c0008t0008g0002
a0001c0008t0008g0013
a0001c0008t0008g0019
a0001c0008t0008g0029
a0001c0008t0008g0065
a0001c0008t0008g0167
a0001c0008t0008g0174
a0001c0008t0008g0175
a0001c0008t0008g0178
a0001c0008t0008g0183
a0001c0008t0008g0194
a0001c0008t0008g0214
a0001c0008t0008g0215
a0001c0008t0008g0296
a0001c0008t0047g0190
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0013t0009g0339
a0001c0021t0008g0287
a0001c0022t0005g0084
a0001c0023t0003g0291
a0001c0026t0008g0348
a0001c0027t0003g0275
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
a0004c0014t0004g0112
a0004c0014t0004g0113
a0005c0019t0007g0133
a0006c0024t0019g0346
 215 HG00408.hp1
HG00408.hp2
HG00423.hp2
others(212): Show 
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01952.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp2
HG02129.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02280.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18973.hp2
NA18975.hp1
NA18979.hp1
NA18980.hp1
NA18980.hp2
NA18983.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18990.hp1
NA18990.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19058.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19088.hp1
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.2312-211A>C
c.2312-211A>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11127797
chr19:11127797 A
A
 T
T
 1 a0001c0003t0003g0295
a0001c0003t0003g0295
 1 NA18989.hp2
NA18989.hp2
 intron_variant MODIFIER c.2312-211A>T
c.2312-211A>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11127797
chr19:11127816 A
A
 G
G
 73 a0001c0001t0001g0297
a0001c0001t0015g0298
a0001c0002t0001g0005
others(70): Show 
a0001c0001t0001g0297
a0001c0001t0015g0298
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0004t0001g0095
a0001c0007t0001g0165
a0001c0007t0001g0180
a0001c0007t0001g0181
a0001c0007t0001g0224
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
 78 HG00099.hp1
HG00099.hp2
HG00423.hp1
others(75): Show 
HG00099.hp1
HG00099.hp2
HG00423.hp1
HG00438.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp2
HG01928.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02055.hp1
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02523.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02965.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18948.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18966.hp1
NA18971.hp2
NA18975.hp2
NA18992.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19009.hp2
NA19056.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19070.hp2
NA19085.hp2
NA19088.hp2
NA19091.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2312-192A>G
c.2312-192A>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11127816
chr19:11127860 G
G
 A
A
 1 a0002c0005t0002g0263
a0002c0005t0002g0263
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.2312-148G>A
c.2312-148G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11127860
chr19:11127872 A
A
 G
G
 287 a0001c0001t0001g0297
a0001c0001t0005g0007
a0001c0001t0005g0060
others(284): Show 
a0001c0001t0001g0297
a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
a0001c0001t0005g0162
a0001c0001t0005g0172
a0001c0001t0005g0179
a0001c0001t0005g0184
a0001c0001t0005g0192
a0001c0001t0005g0240
a0001c0001t0005g0249
a0001c0001t0005g0258
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0078
a0001c0001t0007g0079
a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0134
a0001c0001t0007g0157
a0001c0001t0007g0171
a0001c0001t0007g0176
a0001c0001t0007g0250
a0001c0001t0007g0251
a0001c0001t0007g0262
a0001c0001t0007g0273
a0001c0001t0007g0303
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0007g0306
a0001c0001t0007g0307
a0001c0001t0007g0308
a0001c0001t0007g0310
a0001c0001t0010g0072
a0001c0001t0010g0217
a0001c0001t0010g0239
a0001c0001t0010g0244
a0001c0001t0010g0245
a0001c0001t0010g0248
a0001c0001t0010g0259
a0001c0001t0010g0265
a0001c0001t0011g0073
a0001c0001t0011g0156
a0001c0001t0011g0242
a0001c0001t0011g0246
a0001c0001t0011g0254
a0001c0001t0012g0071
a0001c0001t0012g0136
a0001c0001t0012g0158
a0001c0001t0012g0161
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0013g0319
a0001c0001t0015g0298
a0001c0001t0016g0104
a0001c0001t0016g0108
a0001c0001t0016g0109
a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0001t0022g0243
a0001c0001t0023g0051
a0001c0001t0027g0103
a0001c0001t0028g0107
a0001c0001t0029g0132
a0001c0001t0030g0159
a0001c0001t0031g0333
a0001c0001t0032g0216
a0001c0001t0033g0182
a0001c0001t0034g0185
a0001c0001t0035g0020
a0001c0001t0037g0166
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0006g0031
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0026g0237
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0001g0095
a0001c0004t0003g0014
a0001c0004t0003g0063
a0001c0004t0004g0048
a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0005g0042
a0001c0004t0005g0238
a0001c0004t0006g0145
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0036g0033
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0004t0046g0046
a0001c0006t0005g0052
a0001c0006t0048g0016
a0001c0007t0001g0165
a0001c0007t0001g0180
a0001c0007t0001g0181
a0001c0007t0001g0224
a0001c0007t0020g0035
a0001c0007t0020g0318
a0001c0007t0020g0321
a0001c0008t0008g0002
a0001c0008t0008g0013
a0001c0008t0008g0019
a0001c0008t0008g0029
a0001c0008t0008g0065
a0001c0008t0008g0167
a0001c0008t0008g0174
a0001c0008t0008g0175
a0001c0008t0008g0178
a0001c0008t0008g0183
a0001c0008t0008g0194
a0001c0008t0008g0214
a0001c0008t0008g0215
a0001c0008t0008g0296
a0001c0008t0047g0190
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0013t0009g0339
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0018t0024g0047
a0001c0018t0024g0322
a0001c0021t0008g0287
a0001c0022t0005g0084
a0001c0023t0003g0291
a0001c0026t0008g0348
a0001c0027t0003g0275
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
a0004c0014t0004g0112
a0004c0014t0004g0113
a0005c0019t0007g0133
a0006c0024t0019g0346
 297 HG00099.hp1
HG00099.hp2
HG00408.hp1
others(294): Show 
HG00099.hp1
HG00099.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01496.hp1
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18979.hp1
NA18980.hp1
NA18980.hp2
NA18983.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2312-136A>G
c.2312-136A>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11127872
chr19:11127937 G
G
 A
A
 3 a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0006t0048g0016
a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0006t0048g0016
 4 HG02559.hp2
HG02630.hp2
HG02895.hp2
others(1): Show 
HG02559.hp2
HG02630.hp2
HG02895.hp2
HG03041.hp2
 intron_variant MODIFIER c.2312-71G>A
c.2312-71G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11127937
chr19:11127961 G
G
 A
A
 1 a0001c0001t0005g0179
a0001c0001t0005g0179
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.2312-47G>A
c.2312-47G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 15/17 chr19 11127961
chr19:11128126 C
C
 A
A
 2 a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0001t0021g0008
a0001c0001t0021g0267
 3 HG02559.hp2
HG02630.hp2
HG03041.hp2
HG02559.hp2
HG02630.hp2
HG03041.hp2
 intron_variant MODIFIER c.2389+41C>A
c.2389+41C>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 16/17 chr19 11128126
chr19:11128131 C
C
 T
T
 94 a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
others(91): Show 
a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
a0001c0001t0005g0162
a0001c0001t0005g0172
a0001c0001t0005g0179
a0001c0001t0005g0184
a0001c0001t0005g0192
a0001c0001t0005g0240
a0001c0001t0005g0249
a0001c0001t0005g0258
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0078
a0001c0001t0007g0079
a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0134
a0001c0001t0007g0157
a0001c0001t0007g0171
a0001c0001t0007g0176
a0001c0001t0007g0250
a0001c0001t0007g0251
a0001c0001t0007g0262
a0001c0001t0007g0273
a0001c0001t0007g0303
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0007g0306
a0001c0001t0007g0307
a0001c0001t0007g0308
a0001c0001t0007g0310
a0001c0001t0010g0072
a0001c0001t0010g0217
a0001c0001t0010g0239
a0001c0001t0010g0244
a0001c0001t0010g0245
a0001c0001t0010g0248
a0001c0001t0010g0259
a0001c0001t0010g0265
a0001c0001t0011g0073
a0001c0001t0011g0156
a0001c0001t0011g0242
a0001c0001t0011g0246
a0001c0001t0011g0254
a0001c0001t0012g0071
a0001c0001t0012g0136
a0001c0001t0012g0158
a0001c0001t0012g0161
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0013g0319
a0001c0001t0016g0104
a0001c0001t0016g0108
a0001c0001t0016g0109
a0001c0001t0022g0243
a0001c0001t0023g0051
a0001c0001t0027g0103
a0001c0001t0028g0107
a0001c0001t0029g0132
a0001c0001t0030g0159
a0001c0001t0031g0333
a0001c0001t0032g0216
a0001c0001t0033g0182
a0001c0001t0034g0185
a0001c0001t0035g0020
a0001c0001t0037g0166
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0004t0005g0042
a0001c0004t0005g0238
a0001c0006t0005g0052
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0022t0005g0084
a0005c0019t0007g0133
 95 HG00558.hp2
HG00597.hp2
HG00621.hp2
others(92): Show 
HG00558.hp2
HG00597.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG01069.hp2
HG01074.hp1
HG01099.hp1
HG01168.hp2
HG01169.hp1
HG01261.hp2
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02080.hp2
HG02148.hp1
HG02155.hp1
HG02258.hp1
HG02273.hp2
HG02523.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp2
HG04204.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18950.hp1
NA18953.hp1
NA18954.hp1
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18964.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18973.hp2
NA18975.hp1
NA18980.hp2
NA18983.hp2
NA18986.hp2
NA18990.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19011.hp1
NA19056.hp2
NA19058.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19083.hp1
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA20905.hp1
 intron_variant MODIFIER c.2389+46C>T
c.2389+46C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 16/17 chr19 11128131
chr19:11128132 G
G
 A
A
 28 a0001c0004t0004g0048
a0001c0004t0004g0067
a0001c0004t0004g0080
others(25): Show 
a0001c0004t0004g0048
a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0013t0004g0041
a0001c0013t0004g0338
a0004c0014t0004g0112
a0004c0014t0004g0113
 28 HG00408.hp2
HG00544.hp2
HG01891.hp1
others(25): Show 
HG00408.hp2
HG00544.hp2
HG01891.hp1
HG01891.hp2
HG02015.hp1
HG02129.hp2
HG02257.hp1
HG02647.hp2
HG02735.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG03490.hp1
HG03540.hp1
HG03654.hp2
NA18939.hp1
NA18941.hp2
NA18950.hp2
NA18969.hp1
NA18985.hp2
NA18989.hp1
NA18990.hp1
NA19004.hp1
NA19010.hp2
NA19012.hp1
NA19067.hp1
NA20129.hp1
 intron_variant MODIFIER c.2389+47G>A
c.2389+47G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 16/17 chr19 11128132
chr19:11128142 C
C
 T
T
 1 a0001c0008t0008g0296
a0001c0008t0008g0296
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.2389+57C>T
c.2389+57C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 16/17 chr19 11128142
chr19:11128201 G
G
 A
A
 71 a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
others(68): Show 
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0006g0031
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0026g0237
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0003g0014
a0001c0004t0003g0063
a0001c0004t0004g0048
a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0023t0003g0291
a0001c0027t0003g0275
a0004c0014t0004g0112
a0004c0014t0004g0113
 71 HG00408.hp1
HG00408.hp2
HG00423.hp2
others(68): Show 
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG01891.hp1
HG01891.hp2
HG02015.hp1
HG02074.hp2
HG02129.hp2
HG02145.hp1
HG02165.hp1
HG02257.hp1
HG02486.hp2
HG02647.hp2
HG02735.hp1
HG02809.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp2
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03688.hp2
HG03942.hp1
HG06807.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18964.hp2
NA18967.hp1
NA18969.hp1
NA18971.hp1
NA18979.hp1
NA18985.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA19002.hp2
NA19004.hp1
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp1
NA19080.hp2
NA19085.hp1
NA20129.hp1
 intron_variant MODIFIER c.2389+116G>A
c.2389+116G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 16/17 chr19 11128201
chr19:11128222 G
G
 A
A
 1 a0001c0004t0004g0096
a0001c0004t0004g0096
 1 NA18985.hp2
NA18985.hp2
 intron_variant MODIFIER c.2389+137G>A
c.2389+137G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 16/17 chr19 11128222
chr19:11128299 C
C
 T
T
 64 a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
others(61): Show 
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0026g0237
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0003g0063
a0001c0004t0004g0048
a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0023t0003g0291
a0004c0014t0004g0112
a0004c0014t0004g0113
 64 HG00408.hp1
HG00408.hp2
HG00423.hp2
others(61): Show 
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG01891.hp1
HG01891.hp2
HG02015.hp1
HG02074.hp2
HG02129.hp2
HG02165.hp1
HG02257.hp1
HG02647.hp2
HG02735.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG03130.hp2
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03688.hp2
HG03942.hp1
HG06807.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18964.hp2
NA18967.hp1
NA18969.hp1
NA18971.hp1
NA18979.hp1
NA18985.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA19002.hp2
NA19004.hp1
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp1
NA19080.hp2
NA19085.hp1
NA20129.hp1
 intron_variant MODIFIER c.2389+214C>T
c.2389+214C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 16/17 chr19 11128299
chr19:11128320 C
C
 T
T
 2 a0004c0014t0004g0112
a0004c0014t0004g0113
a0004c0014t0004g0112
a0004c0014t0004g0113
 2 HG01891.hp2
HG02976.hp1
HG01891.hp2
HG02976.hp1
 intron_variant MODIFIER c.2389+235C>T
c.2389+235C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 16/17 chr19 11128320
chr19:11128498 C
C
 T
T
 2 a0002c0005t0002g0028
a0002c0005t0002g0034
a0002c0005t0002g0028
a0002c0005t0002g0034
 2 HG02451.hp2
HG02886.hp2
HG02451.hp2
HG02886.hp2
 intron_variant MODIFIER c.2389+413C>T
c.2389+413C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 16/17 chr19 11128498
chr19:11128503 AC
AC
 A
A
 71 a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
others(68): Show 
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0006g0031
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0026g0237
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0003g0014
a0001c0004t0003g0063
a0001c0004t0004g0048
a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0023t0003g0291
a0001c0027t0003g0275
a0004c0014t0004g0112
a0004c0014t0004g0113
 71 HG00408.hp1
HG00408.hp2
HG00423.hp2
others(68): Show 
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG01891.hp1
HG01891.hp2
HG02015.hp1
HG02074.hp2
HG02129.hp2
HG02145.hp1
HG02165.hp1
HG02257.hp1
HG02486.hp2
HG02647.hp2
HG02735.hp1
HG02809.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp2
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03688.hp2
HG03942.hp1
HG06807.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18964.hp2
NA18967.hp1
NA18969.hp1
NA18971.hp1
NA18979.hp1
NA18985.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA19002.hp2
NA19004.hp1
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp1
NA19080.hp2
NA19085.hp1
NA20129.hp1
 intron_variant MODIFIER c.2389+421delC
c.2389+421delC
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr19 11128503
chr19:11128763 T
T
 C
C
 73 a0001c0001t0001g0297
a0001c0001t0015g0298
a0001c0002t0001g0005
others(70): Show 
a0001c0001t0001g0297
a0001c0001t0015g0298
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0004t0001g0095
a0001c0007t0001g0165
a0001c0007t0001g0180
a0001c0007t0001g0181
a0001c0007t0001g0224
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
 78 HG00099.hp1
HG00099.hp2
HG00423.hp1
others(75): Show 
HG00099.hp1
HG00099.hp2
HG00423.hp1
HG00438.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp2
HG01928.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02055.hp1
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02523.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02965.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18948.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18966.hp1
NA18971.hp2
NA18975.hp2
NA18992.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19009.hp2
NA19056.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19070.hp2
NA19085.hp2
NA19088.hp2
NA19091.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2389+678T>C
c.2389+678T>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 16/17 chr19 11128763
chr19:11128942 G
G
 A
A
 72 a0001c0002t0014g0211
a0001c0003t0003g0021
a0001c0003t0003g0030
others(69): Show 
a0001c0002t0014g0211
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0006g0031
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0026g0237
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0055g0320
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0003g0014
a0001c0004t0003g0063
a0001c0004t0004g0048
a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0023t0003g0291
a0001c0027t0003g0275
a0004c0014t0004g0112
a0004c0014t0004g0113
 72 HG00408.hp1
HG00408.hp2
HG00423.hp2
others(69): Show 
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG01891.hp1
HG01891.hp2
HG02015.hp1
HG02074.hp2
HG02129.hp2
HG02145.hp1
HG02165.hp1
HG02257.hp1
HG02486.hp2
HG02647.hp2
HG02735.hp1
HG02809.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp2
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03688.hp2
HG03942.hp1
HG06807.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18964.hp2
NA18967.hp1
NA18969.hp1
NA18971.hp1
NA18979.hp1
NA18985.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA19002.hp2
NA19004.hp1
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp1
NA19080.hp2
NA19085.hp1
NA19091.hp1
NA20129.hp1
 intron_variant MODIFIER c.2390-571G>A
c.2390-571G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 16/17 chr19 11128942
chr19:11129025 C
C
 CA
CA
 229 a0001c0001t0001g0297
a0001c0001t0005g0007
a0001c0001t0005g0060
others(226): Show 
a0001c0001t0001g0297
a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
a0001c0001t0005g0162
a0001c0001t0005g0172
a0001c0001t0005g0179
a0001c0001t0005g0184
a0001c0001t0005g0192
a0001c0001t0005g0240
a0001c0001t0005g0249
a0001c0001t0005g0258
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0078
a0001c0001t0007g0079
a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0134
a0001c0001t0007g0157
a0001c0001t0007g0171
a0001c0001t0007g0176
a0001c0001t0007g0250
a0001c0001t0007g0251
a0001c0001t0007g0262
a0001c0001t0007g0273
a0001c0001t0007g0303
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0007g0306
a0001c0001t0007g0307
a0001c0001t0007g0308
a0001c0001t0007g0310
a0001c0001t0010g0072
a0001c0001t0010g0217
a0001c0001t0010g0239
a0001c0001t0010g0244
a0001c0001t0010g0245
a0001c0001t0010g0248
a0001c0001t0010g0259
a0001c0001t0010g0265
a0001c0001t0011g0073
a0001c0001t0011g0156
a0001c0001t0011g0242
a0001c0001t0011g0246
a0001c0001t0011g0254
a0001c0001t0012g0071
a0001c0001t0012g0136
a0001c0001t0012g0158
a0001c0001t0012g0161
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0013g0319
a0001c0001t0015g0298
a0001c0001t0016g0104
a0001c0001t0016g0108
a0001c0001t0016g0109
a0001c0001t0022g0243
a0001c0001t0023g0051
a0001c0001t0027g0103
a0001c0001t0028g0107
a0001c0001t0029g0132
a0001c0001t0030g0159
a0001c0001t0031g0333
a0001c0001t0032g0216
a0001c0001t0033g0182
a0001c0001t0034g0185
a0001c0001t0035g0020
a0001c0001t0037g0166
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0006g0043
a0001c0002t0006g0114
a0001c0002t0006g0276
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0003t0003g0068
a0001c0003t0003g0115
a0001c0003t0003g0116
a0001c0003t0003g0119
a0001c0003t0003g0121
a0001c0003t0003g0122
a0001c0003t0003g0124
a0001c0003t0003g0126
a0001c0003t0003g0128
a0001c0003t0003g0131
a0001c0003t0003g0143
a0001c0003t0003g0154
a0001c0003t0003g0163
a0001c0003t0003g0164
a0001c0003t0003g0203
a0001c0003t0003g0204
a0001c0003t0003g0205
a0001c0003t0003g0272
a0001c0003t0003g0288
a0001c0003t0003g0289
a0001c0003t0003g0290
a0001c0003t0003g0292
a0001c0003t0003g0295
a0001c0003t0003g0302
a0001c0003t0003g0334
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0003t0025g0022
a0001c0003t0025g0135
a0001c0003t0026g0064
a0001c0003t0026g0237
a0001c0003t0053g0123
a0001c0003t0054g0125
a0001c0003t0057g0127
a0001c0003t0058g0293
a0001c0003t0059g0129
a0001c0004t0001g0095
a0001c0004t0003g0063
a0001c0004t0004g0048
a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0005g0042
a0001c0004t0005g0238
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0007t0001g0165
a0001c0007t0001g0180
a0001c0007t0001g0181
a0001c0007t0001g0224
a0001c0007t0052g0177
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0001c0022t0005g0084
a0001c0023t0003g0291
a0004c0014t0004g0112
a0004c0014t0004g0113
a0005c0019t0007g0133
 235 HG00099.hp1
HG00099.hp2
HG00408.hp1
others(232): Show 
HG00099.hp1
HG00099.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp2
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01261.hp2
HG01358.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03130.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18979.hp1
NA18980.hp2
NA18983.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2390-475dupA
c.2390-475dupA
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr19 11129025
chr19:11129038 AG
AG
 A
A
 7 a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
others(4): Show 
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0006g0031
a0001c0003t0055g0320
a0001c0004t0003g0014
a0001c0027t0003g0275
 7 HG02145.hp1
HG02486.hp2
HG02896.hp1
others(4): Show 
HG02145.hp1
HG02486.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03130.hp1
HG03225.hp2
 intron_variant MODIFIER c.2390-474delG
c.2390-474delG
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 16/17 chr19 11129038
chr19:11129041 A
A
 G
G
 7 a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
others(4): Show 
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0006g0031
a0001c0003t0055g0320
a0001c0004t0003g0014
a0001c0027t0003g0275
 7 HG02145.hp1
HG02486.hp2
HG02896.hp1
others(4): Show 
HG02145.hp1
HG02486.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03130.hp1
HG03225.hp2
 intron_variant MODIFIER c.2390-472A>G
c.2390-472A>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 16/17 chr19 11129041
chr19:11129043 G
G
 A
A
 7 a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
others(4): Show 
a0001c0003t0003g0021
a0001c0003t0003g0030
a0001c0003t0003g0032
a0001c0003t0006g0031
a0001c0003t0055g0320
a0001c0004t0003g0014
a0001c0027t0003g0275
 7 HG02145.hp1
HG02486.hp2
HG02896.hp1
others(4): Show 
HG02145.hp1
HG02486.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03130.hp1
HG03225.hp2
 intron_variant MODIFIER c.2390-470G>A
c.2390-470G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 16/17 chr19 11129043
chr19:11129071 T
T
 G
G
 1 a0001c0002t0044g0256
a0001c0002t0044g0256
 1 HG01952.hp2
HG01952.hp2
 intron_variant MODIFIER c.2390-442T>G
c.2390-442T>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 16/17 chr19 11129071
chr19:11129097 G
G
 A
A
 1 a0001c0001t0029g0132
a0001c0001t0029g0132
 1 NA18940.hp2
NA18940.hp2
 intron_variant MODIFIER c.2390-416G>A
c.2390-416G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 16/17 chr19 11129097
chr19:11129098 G
G
 T
T
 1 a0001c0001t0029g0132
a0001c0001t0029g0132
 1 NA18940.hp2
NA18940.hp2
 intron_variant MODIFIER c.2390-415G>T
c.2390-415G>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 16/17 chr19 11129098
chr19:11129100 G
G
 A
A
 1 a0001c0001t0029g0132
a0001c0001t0029g0132
 1 NA18940.hp2
NA18940.hp2
 intron_variant MODIFIER c.2390-413G>A
c.2390-413G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 16/17 chr19 11129100
chr19:11129102 C
C
 A
A
 1 a0001c0001t0029g0132
a0001c0001t0029g0132
 1 NA18940.hp2
NA18940.hp2
 intron_variant MODIFIER c.2390-411C>A
c.2390-411C>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 16/17 chr19 11129102
chr19:11129103 T
T
 G
G
 1 a0001c0001t0029g0132
a0001c0001t0029g0132
 1 NA18940.hp2
NA18940.hp2
 intron_variant MODIFIER c.2390-410T>G
c.2390-410T>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 16/17 chr19 11129103
chr19:11129104 C
C
 T
T
 1 a0001c0001t0029g0132
a0001c0001t0029g0132
 1 NA18940.hp2
NA18940.hp2
 intron_variant MODIFIER c.2390-409C>T
c.2390-409C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 16/17 chr19 11129104
chr19:11129106 C
C
 A
A
 1 a0001c0001t0029g0132
a0001c0001t0029g0132
 1 NA18940.hp2
NA18940.hp2
 intron_variant MODIFIER c.2390-407C>A
c.2390-407C>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 16/17 chr19 11129106
chr19:11129108 C
C
 G
G
 1 a0001c0001t0029g0132
a0001c0001t0029g0132
 1 NA18940.hp2
NA18940.hp2
 intron_variant MODIFIER c.2390-405C>G
c.2390-405C>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 16/17 chr19 11129108
chr19:11129236 G
G
 A
A
 3 a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
 3 NA18957.hp1
NA18980.hp1
NA19012.hp2
NA18957.hp1
NA18980.hp1
NA19012.hp2
 intron_variant MODIFIER c.2390-277G>A
c.2390-277G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 16/17 chr19 11129236
chr19:11129237 C
C
 G
G
 1 a0001c0003t0059g0129
a0001c0003t0059g0129
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.2390-276C>G
c.2390-276C>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 16/17 chr19 11129237
chr19:11129377 G
G
 A
A
 94 a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
others(91): Show 
a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
a0001c0001t0005g0162
a0001c0001t0005g0172
a0001c0001t0005g0179
a0001c0001t0005g0184
a0001c0001t0005g0192
a0001c0001t0005g0240
a0001c0001t0005g0249
a0001c0001t0005g0258
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0078
a0001c0001t0007g0079
a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0134
a0001c0001t0007g0157
a0001c0001t0007g0171
a0001c0001t0007g0176
a0001c0001t0007g0250
a0001c0001t0007g0251
a0001c0001t0007g0262
a0001c0001t0007g0273
a0001c0001t0007g0303
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0007g0306
a0001c0001t0007g0307
a0001c0001t0007g0308
a0001c0001t0007g0310
a0001c0001t0010g0072
a0001c0001t0010g0217
a0001c0001t0010g0239
a0001c0001t0010g0244
a0001c0001t0010g0245
a0001c0001t0010g0248
a0001c0001t0010g0259
a0001c0001t0010g0265
a0001c0001t0011g0073
a0001c0001t0011g0156
a0001c0001t0011g0242
a0001c0001t0011g0246
a0001c0001t0011g0254
a0001c0001t0012g0071
a0001c0001t0012g0136
a0001c0001t0012g0158
a0001c0001t0012g0161
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0013g0319
a0001c0001t0016g0104
a0001c0001t0016g0108
a0001c0001t0016g0109
a0001c0001t0022g0243
a0001c0001t0023g0051
a0001c0001t0027g0103
a0001c0001t0028g0107
a0001c0001t0029g0132
a0001c0001t0030g0159
a0001c0001t0031g0333
a0001c0001t0032g0216
a0001c0001t0033g0182
a0001c0001t0034g0185
a0001c0001t0035g0020
a0001c0001t0037g0166
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0004t0005g0042
a0001c0004t0005g0238
a0001c0006t0005g0052
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0022t0005g0084
a0005c0019t0007g0133
 95 HG00558.hp2
HG00597.hp2
HG00621.hp2
others(92): Show 
HG00558.hp2
HG00597.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG01069.hp2
HG01074.hp1
HG01099.hp1
HG01168.hp2
HG01169.hp1
HG01261.hp2
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02080.hp2
HG02148.hp1
HG02155.hp1
HG02258.hp1
HG02273.hp2
HG02523.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp2
HG04204.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18950.hp1
NA18953.hp1
NA18954.hp1
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18964.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18973.hp2
NA18975.hp1
NA18980.hp2
NA18983.hp2
NA18986.hp2
NA18990.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19011.hp1
NA19056.hp2
NA19058.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19083.hp1
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA20905.hp1
 intron_variant MODIFIER c.2390-136G>A
c.2390-136G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 16/17 chr19 11129377
chr19:11129436 G
G
 A
A
 3 a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
 3 NA18957.hp1
NA18980.hp1
NA19012.hp2
NA18957.hp1
NA18980.hp1
NA19012.hp2
 intron_variant MODIFIER c.2390-77G>A
c.2390-77G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 16/17 chr19 11129436
chr19:11129969 G
G
 A
A
 5 a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0157
others(2): Show 
a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0157
a0001c0001t0007g0176
a0001c0002t0001g0252
 5 HG00597.hp2
HG02080.hp2
HG02818.hp2
others(2): Show 
HG00597.hp2
HG02080.hp2
HG02818.hp2
NA18983.hp2
NA19067.hp2
 intron_variant MODIFIER c.2547+299G>A
c.2547+299G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 17/17 chr19 11129969
chr19:11129977 C
C
 T
T
 1 a0002c0005t0002g0263
a0002c0005t0002g0263
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.2547+307C>T
c.2547+307C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 17/17 chr19 11129977
chr19:11129978 G
G
 A
A
 2 a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0004t0019g0117
a0001c0004t0019g0118
 2 HG02895.hp1
HG02897.hp1
HG02895.hp1
HG02897.hp1
 intron_variant MODIFIER c.2547+308G>A
c.2547+308G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 17/17 chr19 11129978
chr19:11130118 C
C
 T
T
 92 a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
others(89): Show 
a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
a0001c0001t0005g0162
a0001c0001t0005g0172
a0001c0001t0005g0179
a0001c0001t0005g0184
a0001c0001t0005g0192
a0001c0001t0005g0240
a0001c0001t0005g0249
a0001c0001t0005g0258
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0078
a0001c0001t0007g0079
a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0134
a0001c0001t0007g0157
a0001c0001t0007g0171
a0001c0001t0007g0176
a0001c0001t0007g0250
a0001c0001t0007g0251
a0001c0001t0007g0262
a0001c0001t0007g0273
a0001c0001t0007g0303
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0007g0306
a0001c0001t0007g0307
a0001c0001t0007g0308
a0001c0001t0007g0310
a0001c0001t0010g0072
a0001c0001t0010g0217
a0001c0001t0010g0239
a0001c0001t0010g0244
a0001c0001t0010g0245
a0001c0001t0010g0248
a0001c0001t0010g0259
a0001c0001t0010g0265
a0001c0001t0011g0073
a0001c0001t0011g0156
a0001c0001t0011g0242
a0001c0001t0011g0246
a0001c0001t0011g0254
a0001c0001t0012g0071
a0001c0001t0012g0136
a0001c0001t0012g0158
a0001c0001t0012g0161
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0013g0319
a0001c0001t0016g0104
a0001c0001t0016g0108
a0001c0001t0016g0109
a0001c0001t0022g0243
a0001c0001t0023g0051
a0001c0001t0027g0103
a0001c0001t0028g0107
a0001c0001t0029g0132
a0001c0001t0030g0159
a0001c0001t0031g0333
a0001c0001t0032g0216
a0001c0001t0033g0182
a0001c0001t0034g0185
a0001c0001t0035g0020
a0001c0001t0037g0166
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0004t0005g0042
a0001c0004t0005g0238
a0001c0006t0005g0052
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0022t0005g0084
a0005c0019t0007g0133
 93 HG00558.hp2
HG00597.hp2
HG00621.hp2
others(90): Show 
HG00558.hp2
HG00597.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG01069.hp2
HG01074.hp1
HG01099.hp1
HG01168.hp2
HG01169.hp1
HG01261.hp2
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02080.hp2
HG02148.hp1
HG02155.hp1
HG02258.hp1
HG02273.hp2
HG02523.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18950.hp1
NA18953.hp1
NA18954.hp1
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18964.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18973.hp2
NA18975.hp1
NA18980.hp2
NA18983.hp2
NA18986.hp2
NA18990.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19011.hp1
NA19056.hp2
NA19058.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19083.hp1
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA20905.hp1
 intron_variant MODIFIER c.2547+448C>T
c.2547+448C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 17/17 chr19 11130118
chr19:11130204 C
C
 CA
CA
 17 a0001c0001t0010g0072
a0001c0001t0015g0298
a0001c0001t0027g0103
others(14): Show 
a0001c0001t0010g0072
a0001c0001t0015g0298
a0001c0001t0027g0103
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0006g0276
a0001c0004t0004g0067
a0001c0004t0004g0087
a0001c0004t0004g0093
a0001c0004t0004g0097
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0007t0002g0188
a0001c0008t0008g0013
a0001c0018t0024g0047
a0001c0018t0024g0322
 17 HG01358.hp2
HG01891.hp1
HG02015.hp1
others(14): Show 
HG01358.hp2
HG01891.hp1
HG02015.hp1
HG02055.hp1
HG02257.hp1
HG02647.hp2
HG02723.hp1
HG02896.hp2
HG03579.hp1
HG06807.hp2
NA18906.hp2
NA18957.hp2
NA18961.hp2
NA18967.hp2
NA19000.hp1
NA19010.hp2
NA19012.hp1
 intron_variant MODIFIER c.2547+550dupA
c.2547+550dupA
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 17/17 INFO_REALIGN_3_PRIME chr19 11130204
chr19:11130326 G
G
 A
A
 4 a0001c0001t0010g0265
a0001c0001t0011g0246
a0001c0010t0010g0024
others(1): Show 
a0001c0001t0010g0265
a0001c0001t0011g0246
a0001c0010t0010g0024
a0001c0010t0011g0026
 4 HG00642.hp2
HG01517.hp2
HG03704.hp1
others(1): Show 
HG00642.hp2
HG01517.hp2
HG03704.hp1
HG03831.hp1
 intron_variant MODIFIER c.2547+656G>A
c.2547+656G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 17/17 chr19 11130326
chr19:11130384 G
G
 A
A
 36 a0001c0001t0010g0265
a0001c0001t0011g0246
a0001c0001t0021g0008
others(33): Show 
a0001c0001t0010g0265
a0001c0001t0011g0246
a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
a0001c0004t0019g0117
a0001c0004t0019g0118
a0001c0006t0048g0016
a0001c0007t0020g0035
a0001c0007t0020g0318
a0001c0007t0020g0321
a0001c0008t0008g0002
a0001c0008t0008g0013
a0001c0008t0008g0019
a0001c0008t0008g0029
a0001c0008t0008g0065
a0001c0008t0008g0167
a0001c0008t0008g0174
a0001c0008t0008g0175
a0001c0008t0008g0178
a0001c0008t0008g0183
a0001c0008t0008g0194
a0001c0008t0008g0214
a0001c0008t0008g0215
a0001c0008t0008g0296
a0001c0008t0047g0190
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0021t0008g0287
a0001c0026t0008g0348
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
a0006c0024t0019g0346
 39 HG00642.hp2
HG01074.hp2
HG01167.hp1
others(36): Show 
HG00642.hp2
HG01074.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp2
HG01257.hp2
HG01261.hp1
HG01496.hp1
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp2
HG02056.hp1
HG02300.hp2
HG02451.hp1
HG02559.hp2
HG02630.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp1
HG03041.hp2
HG03139.hp2
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03831.hp1
HG03834.hp1
HG03942.hp2
NA18906.hp2
NA18957.hp1
NA18980.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA20300.hp1
NA20805.hp2
 intron_variant MODIFIER c.2547+714G>A
c.2547+714G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 17/17 chr19 11130384
chr19:11130479 G
G
 A
A
 3 a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
a0002c0005t0008g0040
a0002c0005t0008g0044
a0002c0005t0008g0277
 3 HG01934.hp1
HG02818.hp1
NA20300.hp1
HG01934.hp1
HG02818.hp1
NA20300.hp1
 intron_variant MODIFIER c.2548-802G>A
c.2548-802G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 17/17 chr19 11130479
chr19:11130515 T
T
 TA
TA
 6 a0001c0004t0004g0087
a0001c0004t0004g0096
a0001c0004t0004g0097
others(3): Show 
a0001c0004t0004g0087
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0006t0006g0331
a0001c0007t0002g0188
a0001c0027t0003g0275
 6 HG02015.hp1
HG03098.hp2
NA18940.hp1
others(3): Show 
HG02015.hp1
HG03098.hp2
NA18940.hp1
NA18967.hp2
NA18985.hp2
NA19012.hp1
 intron_variant MODIFIER c.2548-751dupA
c.2548-751dupA
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 17/17 INFO_REALIGN_3_PRIME chr19 11130515
chr19:11130515 TA
TA
 T
T
 13 a0001c0001t0016g0108
a0001c0001t0029g0132
a0001c0002t0006g0043
others(10): Show 
a0001c0001t0016g0108
a0001c0001t0029g0132
a0001c0002t0006g0043
a0001c0002t0014g0211
a0001c0003t0006g0031
a0001c0004t0019g0117
a0001c0006t0005g0052
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0266
a0001c0006t0049g0062
a0002c0005t0002g0343
 13 HG01069.hp1
HG02257.hp2
HG02486.hp2
others(10): Show 
HG01069.hp1
HG02257.hp2
HG02486.hp2
HG02630.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03195.hp2
HG03225.hp1
NA18940.hp2
NA18990.hp2
NA19091.hp1
 intron_variant MODIFIER c.2548-751delA
c.2548-751delA
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 17/17 INFO_REALIGN_3_PRIME chr19 11130515
chr19:11130517 A
A
 T
T
 1 a0001c0006t0005g0052
a0001c0006t0005g0052
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.2548-764A>T
c.2548-764A>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 17/17 chr19 11130517
chr19:11130524 A
A
 G
G
 1 a0002c0005t0002g0009
a0002c0005t0002g0009
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.2548-757A>G
c.2548-757A>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 17/17 chr19 11130524
chr19:11130565 G
G
 A
A
 6 a0001c0003t0006g0031
a0001c0006t0006g0037
a0001c0006t0006g0038
others(3): Show 
a0001c0003t0006g0031
a0001c0006t0006g0037
a0001c0006t0006g0038
a0001c0006t0006g0061
a0001c0006t0006g0266
a0001c0006t0049g0062
 6 HG02257.hp2
HG02486.hp2
HG02922.hp2
others(3): Show 
HG02257.hp2
HG02486.hp2
HG02922.hp2
HG02976.hp2
HG03195.hp2
HG03225.hp1
 intron_variant MODIFIER c.2548-716G>A
c.2548-716G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 17/17 chr19 11130565
chr19:11130667 A
A
 C
C
 1 a0001c0003t0005g0140
a0001c0003t0005g0140
 1 NA19056.hp2
NA19056.hp2
 intron_variant MODIFIER c.2548-614A>C
c.2548-614A>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 17/17 chr19 11130667
chr19:11130752 G
G
 A
A
 3 a0001c0002t0001g0220
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0220
a0001c0002t0001g0255
a0001c0002t0001g0257
 3 HG01175.hp1
HG01358.hp2
HG06807.hp2
HG01175.hp1
HG01358.hp2
HG06807.hp2
 intron_variant MODIFIER c.2548-529G>A
c.2548-529G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 17/17 chr19 11130752
chr19:11130908 G
G
 T
T
 1 a0001c0007t0052g0177
a0001c0007t0052g0177
 1 NA18992.hp2
NA18992.hp2
 intron_variant MODIFIER c.2548-373G>T
c.2548-373G>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 17/17 chr19 11130908
chr19:11131104 G
G
 A
A
 95 a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
others(92): Show 
a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
a0001c0001t0005g0162
a0001c0001t0005g0172
a0001c0001t0005g0179
a0001c0001t0005g0184
a0001c0001t0005g0192
a0001c0001t0005g0240
a0001c0001t0005g0249
a0001c0001t0005g0258
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0078
a0001c0001t0007g0079
a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0134
a0001c0001t0007g0157
a0001c0001t0007g0171
a0001c0001t0007g0176
a0001c0001t0007g0250
a0001c0001t0007g0251
a0001c0001t0007g0262
a0001c0001t0007g0273
a0001c0001t0007g0303
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0007g0306
a0001c0001t0007g0307
a0001c0001t0007g0308
a0001c0001t0007g0310
a0001c0001t0010g0072
a0001c0001t0010g0217
a0001c0001t0010g0239
a0001c0001t0010g0244
a0001c0001t0010g0245
a0001c0001t0010g0248
a0001c0001t0010g0259
a0001c0001t0010g0265
a0001c0001t0011g0073
a0001c0001t0011g0156
a0001c0001t0011g0242
a0001c0001t0011g0246
a0001c0001t0011g0254
a0001c0001t0012g0071
a0001c0001t0012g0136
a0001c0001t0012g0158
a0001c0001t0012g0161
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0013g0319
a0001c0001t0016g0104
a0001c0001t0016g0108
a0001c0001t0016g0109
a0001c0001t0022g0243
a0001c0001t0023g0051
a0001c0001t0027g0103
a0001c0001t0028g0107
a0001c0001t0029g0132
a0001c0001t0030g0159
a0001c0001t0031g0333
a0001c0001t0032g0216
a0001c0001t0033g0182
a0001c0001t0034g0185
a0001c0001t0035g0020
a0001c0001t0037g0166
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0004t0005g0042
a0001c0004t0005g0238
a0001c0006t0005g0052
a0001c0008t0008g0013
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0022t0005g0084
a0005c0019t0007g0133
 96 HG00558.hp2
HG00597.hp2
HG00621.hp2
others(93): Show 
HG00558.hp2
HG00597.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG01069.hp2
HG01074.hp1
HG01099.hp1
HG01168.hp2
HG01169.hp1
HG01261.hp2
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02080.hp2
HG02148.hp1
HG02155.hp1
HG02258.hp1
HG02273.hp2
HG02523.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp2
HG04204.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18950.hp1
NA18953.hp1
NA18954.hp1
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18964.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18973.hp2
NA18975.hp1
NA18980.hp2
NA18983.hp2
NA18986.hp2
NA18990.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19011.hp1
NA19056.hp2
NA19058.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19083.hp1
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA20905.hp1
 intron_variant MODIFIER c.2548-177G>A
c.2548-177G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 17/17 chr19 11131104
chr19:11131134 G
G
 A
A
 95 a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
others(92): Show 
a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
a0001c0001t0005g0162
a0001c0001t0005g0172
a0001c0001t0005g0179
a0001c0001t0005g0184
a0001c0001t0005g0192
a0001c0001t0005g0240
a0001c0001t0005g0249
a0001c0001t0005g0258
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0078
a0001c0001t0007g0079
a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0134
a0001c0001t0007g0157
a0001c0001t0007g0171
a0001c0001t0007g0176
a0001c0001t0007g0250
a0001c0001t0007g0251
a0001c0001t0007g0262
a0001c0001t0007g0273
a0001c0001t0007g0303
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0007g0306
a0001c0001t0007g0307
a0001c0001t0007g0308
a0001c0001t0007g0310
a0001c0001t0010g0072
a0001c0001t0010g0217
a0001c0001t0010g0239
a0001c0001t0010g0244
a0001c0001t0010g0245
a0001c0001t0010g0248
a0001c0001t0010g0259
a0001c0001t0010g0265
a0001c0001t0011g0073
a0001c0001t0011g0156
a0001c0001t0011g0242
a0001c0001t0011g0246
a0001c0001t0011g0254
a0001c0001t0012g0071
a0001c0001t0012g0136
a0001c0001t0012g0158
a0001c0001t0012g0161
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0013g0319
a0001c0001t0016g0104
a0001c0001t0016g0108
a0001c0001t0016g0109
a0001c0001t0022g0243
a0001c0001t0023g0051
a0001c0001t0027g0103
a0001c0001t0028g0107
a0001c0001t0029g0132
a0001c0001t0030g0159
a0001c0001t0031g0333
a0001c0001t0032g0216
a0001c0001t0033g0182
a0001c0001t0034g0185
a0001c0001t0035g0020
a0001c0001t0037g0166
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0004t0005g0042
a0001c0004t0005g0238
a0001c0006t0005g0052
a0001c0008t0008g0013
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0022t0005g0084
a0005c0019t0007g0133
 96 HG00558.hp2
HG00597.hp2
HG00621.hp2
others(93): Show 
HG00558.hp2
HG00597.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG01069.hp2
HG01074.hp1
HG01099.hp1
HG01168.hp2
HG01169.hp1
HG01261.hp2
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02080.hp2
HG02148.hp1
HG02155.hp1
HG02258.hp1
HG02273.hp2
HG02523.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp2
HG04204.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18950.hp1
NA18953.hp1
NA18954.hp1
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18964.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18973.hp2
NA18975.hp1
NA18980.hp2
NA18983.hp2
NA18986.hp2
NA18990.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19011.hp1
NA19056.hp2
NA19058.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19083.hp1
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA20905.hp1
 intron_variant MODIFIER c.2548-147G>A
c.2548-147G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 17/17 chr19 11131134
chr19:11131180 G
G
 C
C
 2 a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0278
a0001c0004t0004g0279
 2 HG02735.hp1
HG03654.hp2
HG02735.hp1
HG03654.hp2
 intron_variant MODIFIER c.2548-101G>C
c.2548-101G>C
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 17/17 chr19 11131180
chr19:11131201 G
G
 A
A
 95 a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
others(92): Show 
a0001c0001t0005g0007
a0001c0001t0005g0060
a0001c0001t0005g0102
a0001c0001t0005g0162
a0001c0001t0005g0172
a0001c0001t0005g0179
a0001c0001t0005g0184
a0001c0001t0005g0192
a0001c0001t0005g0240
a0001c0001t0005g0249
a0001c0001t0005g0258
a0001c0001t0007g0069
a0001c0001t0007g0070
a0001c0001t0007g0078
a0001c0001t0007g0079
a0001c0001t0007g0100
a0001c0001t0007g0101
a0001c0001t0007g0105
a0001c0001t0007g0106
a0001c0001t0007g0134
a0001c0001t0007g0157
a0001c0001t0007g0171
a0001c0001t0007g0176
a0001c0001t0007g0250
a0001c0001t0007g0251
a0001c0001t0007g0262
a0001c0001t0007g0273
a0001c0001t0007g0303
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0007g0306
a0001c0001t0007g0307
a0001c0001t0007g0308
a0001c0001t0007g0310
a0001c0001t0010g0072
a0001c0001t0010g0217
a0001c0001t0010g0239
a0001c0001t0010g0244
a0001c0001t0010g0245
a0001c0001t0010g0248
a0001c0001t0010g0259
a0001c0001t0010g0265
a0001c0001t0011g0073
a0001c0001t0011g0156
a0001c0001t0011g0242
a0001c0001t0011g0246
a0001c0001t0011g0254
a0001c0001t0012g0071
a0001c0001t0012g0136
a0001c0001t0012g0158
a0001c0001t0012g0161
a0001c0001t0013g0050
a0001c0001t0013g0053
a0001c0001t0013g0054
a0001c0001t0013g0319
a0001c0001t0016g0104
a0001c0001t0016g0108
a0001c0001t0016g0109
a0001c0001t0022g0243
a0001c0001t0023g0051
a0001c0001t0027g0103
a0001c0001t0028g0107
a0001c0001t0029g0132
a0001c0001t0030g0159
a0001c0001t0031g0333
a0001c0001t0032g0216
a0001c0001t0033g0182
a0001c0001t0034g0185
a0001c0001t0035g0020
a0001c0001t0037g0166
a0001c0002t0012g0059
a0001c0002t0014g0207
a0001c0002t0014g0211
a0001c0002t0014g0212
a0001c0002t0014g0253
a0001c0003t0005g0137
a0001c0003t0005g0138
a0001c0003t0005g0140
a0001c0003t0005g0141
a0001c0003t0005g0142
a0001c0003t0005g0148
a0001c0003t0005g0294
a0001c0003t0013g0139
a0001c0003t0022g0150
a0001c0003t0023g0149
a0001c0004t0005g0042
a0001c0004t0005g0238
a0001c0004t0036g0033
a0001c0006t0005g0052
a0001c0010t0005g0023
a0001c0010t0005g0025
a0001c0010t0010g0024
a0001c0010t0011g0026
a0001c0022t0005g0084
a0005c0019t0007g0133
 96 HG00558.hp2
HG00597.hp2
HG00621.hp2
others(93): Show 
HG00558.hp2
HG00597.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG01069.hp2
HG01074.hp1
HG01099.hp1
HG01168.hp2
HG01169.hp1
HG01261.hp2
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02080.hp2
HG02148.hp1
HG02155.hp1
HG02258.hp1
HG02273.hp2
HG02523.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18940.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18950.hp1
NA18953.hp1
NA18954.hp1
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18964.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18973.hp2
NA18975.hp1
NA18980.hp2
NA18983.hp2
NA18986.hp2
NA18990.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19011.hp1
NA19056.hp2
NA19058.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19083.hp1
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA20905.hp1
 intron_variant MODIFIER c.2548-80G>A
c.2548-80G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 17/17 chr19 11131201
chr19:11131228 G
G
 A
A
 20 a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0004t0009g0003
others(17): Show 
a0001c0001t0021g0008
a0001c0001t0021g0267
a0001c0004t0009g0003
a0001c0004t0009g0010
a0001c0004t0009g0011
a0001c0004t0009g0045
a0001c0004t0009g0144
a0001c0004t0009g0146
a0001c0004t0009g0147
a0001c0004t0009g0151
a0001c0004t0009g0152
a0001c0004t0009g0283
a0001c0004t0009g0284
a0001c0004t0018g0120
a0001c0004t0018g0168
a0001c0004t0018g0187
a0001c0004t0036g0033
a0001c0004t0046g0046
a0001c0006t0048g0016
a0001c0013t0009g0339
 22 HG01109.hp2
HG01952.hp1
HG02280.hp1
others(19): Show 
HG01109.hp2
HG01952.hp1
HG02280.hp1
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02630.hp2
HG02717.hp2
HG02886.hp1
HG02895.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03453.hp1
NA18522.hp1
NA18957.hp1
NA18980.hp1
NA19012.hp2
NA19240.hp1
 intron_variant MODIFIER c.2548-53G>A
c.2548-53G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 17/17 chr19 11131228
chr19:11131239 A
A
 G
G
 98 a0001c0001t0001g0297
a0001c0001t0015g0298
a0001c0002t0001g0005
others(95): Show 
a0001c0001t0001g0297
a0001c0001t0015g0298
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0018
a0001c0002t0001g0066
a0001c0002t0001g0075
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0130
a0001c0002t0001g0186
a0001c0002t0001g0200
a0001c0002t0001g0201
a0001c0002t0001g0206
a0001c0002t0001g0210
a0001c0002t0001g0213
a0001c0002t0001g0218
a0001c0002t0001g0220
a0001c0002t0001g0222
a0001c0002t0001g0223
a0001c0002t0001g0225
a0001c0002t0001g0226
a0001c0002t0001g0227
a0001c0002t0001g0228
a0001c0002t0001g0229
a0001c0002t0001g0230
a0001c0002t0001g0231
a0001c0002t0001g0232
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0235
a0001c0002t0001g0236
a0001c0002t0001g0247
a0001c0002t0001g0252
a0001c0002t0001g0255
a0001c0002t0001g0257
a0001c0002t0001g0260
a0001c0002t0001g0261
a0001c0002t0001g0270
a0001c0002t0001g0299
a0001c0002t0001g0300
a0001c0002t0001g0313
a0001c0002t0001g0314
a0001c0002t0001g0315
a0001c0002t0001g0316
a0001c0002t0015g0195
a0001c0002t0042g0160
a0001c0002t0043g0076
a0001c0002t0044g0256
a0001c0002t0045g0221
a0001c0003t0001g0001
a0001c0003t0001g0153
a0001c0003t0001g0202
a0001c0003t0001g0269
a0001c0004t0001g0095
a0001c0004t0004g0048
a0001c0004t0004g0067
a0001c0004t0004g0080
a0001c0004t0004g0087
a0001c0004t0004g0088
a0001c0004t0004g0089
a0001c0004t0004g0090
a0001c0004t0004g0091
a0001c0004t0004g0092
a0001c0004t0004g0093
a0001c0004t0004g0096
a0001c0004t0004g0097
a0001c0004t0004g0099
a0001c0004t0004g0110
a0001c0004t0004g0111
a0001c0004t0004g0196
a0001c0004t0004g0278
a0001c0004t0004g0279
a0001c0004t0004g0280
a0001c0004t0004g0281
a0001c0004t0004g0282
a0001c0004t0004g0285
a0001c0004t0038g0036
a0001c0004t0039g0094
a0001c0007t0001g0165
a0001c0007t0001g0180
a0001c0007t0001g0181
a0001c0007t0001g0224
a0001c0009t0001g0017
a0001c0009t0017g0004
a0001c0009t0017g0268
a0001c0009t0040g0027
a0001c0012t0001g0209
a0001c0012t0015g0208
a0001c0012t0015g0219
a0001c0013t0004g0041
a0001c0013t0004g0338
a0001c0016t0001g0081
a0001c0016t0001g0082
a0001c0017t0001g0015
a0001c0017t0001g0274
a0004c0014t0004g0112
a0004c0014t0004g0113
 103 HG00099.hp1
HG00099.hp2
HG00408.hp2
others(100): Show 
HG00099.hp1
HG00099.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01358.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02015.hp1
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02523.hp2
HG02647.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03654.hp2
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18939.hp1
NA18941.hp2
NA18948.hp2
NA18950.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18966.hp1
NA18969.hp1
NA18971.hp2
NA18975.hp2
NA18985.hp2
NA18989.hp1
NA18990.hp1
NA18992.hp1
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp2
NA19012.hp1
NA19056.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19070.hp2
NA19085.hp2
NA19088.hp2
NA19091.hp2
NA20129.hp1
NA20805.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2548-42A>G
c.2548-42A>G
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 17/17 chr19 11131239
chr19:11131258 C
C
 T
T
 1 a0001c0004t0036g0033
a0001c0004t0036g0033
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.2548-23C>T
c.2548-23C>T
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 17/17 chr19 11131258
chr19:11131262 G
G
 A
A
 1 a0001c0007t0002g0173
a0001c0007t0002g0173
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.2548-19G>A
c.2548-19G>A
LDLR ENSG00000130164.15 transcript ENST00000558518.6 protein_coding 17/17 chr19 11131262

  • 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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