JoGo LogoJoint Open Genome and Omics Platform (JoGo)
  • Home
    • General
    • Gene
    • Region
    • Variant
    • Haplotype
    • Haplotype by sample
    • ClinVar
    • GWASCatalog
    • GTEx
    • HaplotypeQTL
    • Haplotype
    • Position
    • Clinvar
    • Gene
    • Variant
    • Haplotype
    • Sample
    • FAQ
    • Contact
    • Fundings
    • Developer
    • ChIP-Atlas PeakBrowser
    • ToGoVAR
    • MGeND
    • Nagasaki Lab

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   PKLR_chr1_155284293_155306438  PKLR_chr1_155284293_155306438 (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 5313
ensemblid ENSG00000143627.19
hgncid 9020
symbol PKLR
name pyruvate kinase L/R
refseq_nuc NM_000298.6
refseq_prot NP_000289.1
ensembl_nuc ENST00000342741.6
ensembl_prot ENSP00000339933.4
mane_status MANE Select
chr chr1
start 155289293
end 155301438
strand -
ver v1.2
region chr1:155289293-155301438
region5000 chr1:155284293-155306438
regionname0 PKLR_chr1_155289293_155301438
regionname5000 PKLR_chr1_155284293_155306438

ahapid grch38/
chm13v2
alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 0/1 574 301 88 54 112 9 37 84 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
a0002 0/0 574 3 0 0 3 0 0 3 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
a0003 0/0 574 2 0 1 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
a0004 0/0 574 1 0 0 1 0 0 1 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
a0005 0/0 393 1 0 0 1 0 0 1 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
a0006 0/0 574 1 0 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
a0007 0/0 574 1 0 0 0 0 1 0 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
a0008 0/0 574 1 0 0 1 0 0 1 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438

chapid grch38/
chm13v2
alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 0/0 1725 152 44 22 64 6 16 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
c0002 0/1 1725 147 44 31 48 3 20 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
c0003 0/0 1725 3 0 0 3 0 0 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
c0004 0/0 1725 2 0 1 0 1 0 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
c0005 0/0 1725 2 0 1 0 0 1 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
c0006 0/0 1725 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
c0007 0/0 1708 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
c0008 0/0 1725 1 0 0 0 0 1 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
c0009 0/0 1725 1 0 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
c0010 0/0 1725 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438

thapid grch38
chm13v2
tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 0/0 1323 156 43 22 68 5 18 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
t0002 0/1 1323 148 44 33 47 4 19 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
t0003 0/0 1323 2 0 1 0 1 0 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
t0004 0/0 1323 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
t0005 0/0 1323 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
t0006 0/0 1323 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
t0007 0/0 1323 1 0 0 0 0 1 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
t0008 0/0 1323 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438

ghapid grch38/
chm13v2
total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 9 0 3 4 1 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0002 0/0 9 0 2 7 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0003 0/0 9 0 2 4 0 3 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0004 0/0 8 0 4 2 0 2 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0005 0/0 7 2 2 2 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0006 0/0 6 0 2 3 1 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0007 0/0 5 0 1 2 0 2 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0008 0/0 4 1 3 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0009 0/0 4 3 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0010 0/0 4 2 0 0 0 2 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0011 0/0 3 3 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0012 0/0 3 0 2 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0013 0/0 3 0 0 3 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0014 0/0 3 1 0 2 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0015 0/0 3 3 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0016 0/0 3 0 1 1 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0017 0/0 3 0 3 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0018 0/0 3 1 1 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0019 0/0 3 2 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0020 0/0 3 0 0 2 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0021 0/0 3 0 2 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0022 0/0 2 2 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0023 0/0 2 0 1 0 1 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0024 0/0 2 0 0 0 0 2 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0025 0/0 2 2 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0026 0/0 2 0 1 0 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0027 0/0 2 0 0 2 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0028 0/0 2 0 1 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0029 0/0 2 0 0 2 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0030 0/0 2 0 0 1 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0031 0/0 2 0 0 2 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0032 0/0 2 1 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0033 0/0 2 1 0 0 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0034 0/0 2 2 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0035 0/0 2 2 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0036 0/0 2 2 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0037 0/0 2 0 0 1 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0038 0/0 2 1 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0039 0/0 2 0 2 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0040 0/0 2 1 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0041 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0042 0/0 1 0 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0043 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0044 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0045 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0046 0/0 1 0 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0047 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0048 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0049 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0050 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0051 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0052 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0053 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0054 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0055 0/0 1 0 0 0 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0056 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0057 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0058 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0059 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0060 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0061 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0062 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0063 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0064 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0065 0/0 1 0 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0066 0/0 1 0 0 0 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0067 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0068 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0069 0/0 1 0 0 0 1 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0070 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0071 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0072 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0073 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0074 0/0 1 0 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0075 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0076 0/0 1 0 0 0 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0077 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0078 0/0 1 0 0 0 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0079 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0080 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0081 0/0 1 0 0 0 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0082 0/0 1 0 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0083 0/0 1 0 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0084 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0085 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0086 0/0 1 0 0 0 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0087 0/0 1 0 0 0 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0088 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0089 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0090 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0091 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0092 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0093 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0094 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0095 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0096 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0097 0/0 1 0 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0098 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0099 0/0 1 0 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0100 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0101 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0102 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0103 0/0 1 0 0 0 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0104 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0105 0/0 1 0 0 0 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0106 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0107 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0108 0/0 1 0 0 0 1 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0109 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0110 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0111 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0112 0/0 1 0 0 0 1 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0113 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0114 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0115 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0116 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0117 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0118 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0119 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0120 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0121 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0122 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0123 0/0 1 0 0 0 1 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0124 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0125 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0126 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0127 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0128 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0129 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0130 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0131 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0132 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0133 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0134 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0135 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0136 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0137 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0138 0/0 1 0 0 0 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0139 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0140 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0141 0/0 1 0 0 0 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0142 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0143 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0144 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0145 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0146 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0147 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0148 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0149 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0150 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0151 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0152 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0153 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0154 0/0 1 0 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0155 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0156 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0157 0/0 1 0 0 0 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0158 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0159 0/0 1 0 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0160 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0161 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0162 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0163 0/0 1 0 0 0 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0164 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0165 0/0 1 0 0 0 1 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0166 0/0 1 0 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0167 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0168 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0169 0/0 1 0 0 0 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0170 0/0 1 0 0 0 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0171 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0172 0/0 1 0 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0173 0/0 1 0 0 0 1 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0174 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0175 0/0 1 0 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0176 0/0 1 0 0 0 1 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0177 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0178 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0179 0/0 1 0 0 0 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0180 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0181 0/0 1 0 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0182 0/0 1 0 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0183 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0184 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0185 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0186 0/0 1 0 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0187 0/0 1 0 0 0 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0188 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0189 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0190 0/0 1 0 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0191 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0192 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0193 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0194 0/0 1 0 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0195 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0196 0/0 1 0 0 0 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0197 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0198 0/1 1 0 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0199 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0200 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0201 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0202 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0203 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0204 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0205 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0206 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0207 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0208 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0209 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0210 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0211 0/0 1 0 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0212 0/0 1 0 0 0 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0213 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0214 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
g0215 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438

achapid grch38/
chm13v2
alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 0/0 1725 152 44 22 64 6 16 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
a0001c0002 0/1 1725 147 44 31 48 3 20 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
a0001c0005 0/0 1725 2 0 1 0 0 1 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
a0002c0003 0/0 1725 3 0 0 3 0 0 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
a0003c0004 0/0 1725 2 0 1 0 1 0 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
a0004c0010 0/0 1725 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
a0005c0007 0/0 1708 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
a0006c0009 0/0 1725 1 0 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
a0007c0008 0/0 1725 1 0 0 0 0 1 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
a0008c0006 0/0 1725 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438

acthapid grch38
chm13v2
tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 0/0 3047 148 43 21 63 5 16 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
a0001c0001t0003 0/0 3047 2 0 1 0 1 0 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
a0001c0001t0004 0/0 3047 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
a0001c0001t0008 0/0 3047 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
a0001c0002t0002 0/1 3047 144 44 31 46 3 19 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
a0001c0002t0005 0/0 3047 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
a0001c0002t0006 0/0 3047 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
a0001c0002t0007 0/0 3047 1 0 0 0 0 1 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
a0001c0005t0001 0/0 3047 2 0 1 0 0 1 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
a0002c0003t0001 0/0 3047 3 0 0 3 0 0 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
a0003c0004t0002 0/0 3047 2 0 1 0 1 0 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
a0004c0010t0001 0/0 3047 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
a0005c0007t0002 0/0 3030 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
a0006c0009t0002 0/0 3047 1 0 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
a0007c0008t0001 0/0 3047 1 0 0 0 0 1 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438
a0008c0006t0001 0/0 3047 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR copy fasta chr1 155284293 155306438

actghapid grch38/
chm13v2
total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0004 0/0 8 0 4 2 0 2 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0006 0/0 6 0 2 3 1 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0008 0/0 4 1 3 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0011 0/0 3 3 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0012 0/0 3 0 2 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0013 0/0 3 0 0 3 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0014 0/0 3 1 0 2 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0022 0/0 2 2 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0024 0/0 2 0 0 0 0 2 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0025 0/0 2 2 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0026 0/0 2 0 1 0 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0027 0/0 2 0 0 2 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0028 0/0 2 0 1 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0029 0/0 2 0 0 2 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0030 0/0 2 0 0 1 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0031 0/0 2 0 0 2 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0032 0/0 2 1 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0042 0/0 1 0 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0043 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0047 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0048 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0049 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0050 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0051 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0052 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0053 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0054 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0055 0/0 1 0 0 0 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0056 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0057 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0058 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0060 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0061 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0062 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0063 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0064 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0065 0/0 1 0 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0066 0/0 1 0 0 0 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0067 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0068 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0069 0/0 1 0 0 0 1 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0070 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0071 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0072 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0073 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0074 0/0 1 0 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0075 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0076 0/0 1 0 0 0 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0077 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0078 0/0 1 0 0 0 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0081 0/0 1 0 0 0 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0082 0/0 1 0 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0083 0/0 1 0 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0084 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0085 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0086 0/0 1 0 0 0 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0088 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0089 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0091 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0092 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0093 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0094 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0095 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0096 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0097 0/0 1 0 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0098 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0099 0/0 1 0 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0100 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0101 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0102 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0103 0/0 1 0 0 0 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0104 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0105 0/0 1 0 0 0 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0106 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0107 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0108 0/0 1 0 0 0 1 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0109 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0110 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0111 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0112 0/0 1 0 0 0 1 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0113 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0114 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0115 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0116 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0117 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0118 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0119 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0120 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0121 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0123 0/0 1 0 0 0 1 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0124 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0125 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0126 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0127 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0128 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0129 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0130 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0131 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0132 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0133 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0134 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0135 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0136 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0137 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0138 0/0 1 0 0 0 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0139 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0140 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0141 0/0 1 0 0 0 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0142 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0143 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0144 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0145 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0146 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0213 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0001g0214 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0003g0023 0/0 2 0 1 0 1 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0004g0122 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0001t0008g0215 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0001 0/0 9 0 3 4 1 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0002 0/0 9 0 2 7 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0003 0/0 9 0 2 4 0 3 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0005 0/0 7 2 2 2 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0007 0/0 5 0 1 2 0 2 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0009 0/0 4 3 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0010 0/0 4 2 0 0 0 2 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0015 0/0 3 3 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0016 0/0 3 0 1 1 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0017 0/0 3 0 3 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0018 0/0 3 1 1 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0019 0/0 3 2 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0020 0/0 3 0 0 2 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0021 0/0 3 0 2 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0033 0/0 2 1 0 0 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0034 0/0 2 2 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0035 0/0 2 2 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0036 0/0 2 2 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0037 0/0 2 0 0 1 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0038 0/0 2 1 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0039 0/0 2 0 2 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0040 0/0 2 1 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0044 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0045 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0046 0/0 1 0 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0147 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0148 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0149 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0150 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0151 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0152 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0153 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0154 0/0 1 0 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0155 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0156 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0157 0/0 1 0 0 0 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0158 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0159 0/0 1 0 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0160 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0161 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0162 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0163 0/0 1 0 0 0 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0164 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0165 0/0 1 0 0 0 1 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0166 0/0 1 0 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0167 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0168 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0169 0/0 1 0 0 0 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0170 0/0 1 0 0 0 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0171 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0172 0/0 1 0 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0173 0/0 1 0 0 0 1 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0174 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0175 0/0 1 0 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0177 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0178 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0179 0/0 1 0 0 0 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0180 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0184 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0186 0/0 1 0 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0188 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0189 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0190 0/0 1 0 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0191 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0193 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0194 0/0 1 0 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0195 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0196 0/0 1 0 0 0 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0197 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0198 0/1 1 0 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0199 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0200 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0201 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0202 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0203 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0204 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0205 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0206 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0207 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0208 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0209 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0002g0210 0/0 1 1 0 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0005g0192 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0006g0183 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0002t0007g0187 0/0 1 0 0 0 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0005t0001g0211 0/0 1 0 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0001c0005t0001g0212 0/0 1 0 0 0 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0002c0003t0001g0079 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0002c0003t0001g0080 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0002c0003t0001g0090 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0003c0004t0002g0176 0/0 1 0 0 0 1 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0003c0004t0002g0181 0/0 1 0 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0004c0010t0001g0059 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0005c0007t0002g0185 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0006c0009t0002g0182 0/0 1 0 1 0 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0007c0008t0001g0087 0/0 1 0 0 0 0 1 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
a0008c0006t0001g0041 0/0 1 0 0 1 0 0 PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438

sampleid ID
haplotypeid
ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00099 hp1 a0001 c0001 t0001 g0112 EUR GBR PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG00099 hp2 a0001 c0001 t0003 g0023 EUR GBR PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG00140 hp1 a0001 c0001 t0001 g0123 EUR GBR PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG00140 hp2 a0001 c0002 t0002 g0165 EUR GBR PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG00280 hp1 a0003 c0004 t0002 g0176 EUR FIN PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG00280 hp2 a0001 c0001 t0001 g0108 EUR FIN PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG00408 hp1 a0001 c0001 t0001 g0060 EAS CHS PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG00408 hp2 a0001 c0002 t0002 g0021 EAS CHS PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG00438 hp1 a0001 c0001 t0001 g0093 EAS CHS PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG00438 hp2 a0001 c0001 t0001 g0095 EAS CHS PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG00597 hp1 a0001 c0001 t0001 g0062 EAS CHS PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG00597 hp2 a0001 c0001 t0001 g0013 EAS CHS PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG00609 hp1 a0001 c0002 t0002 g0001 EAS CHS PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG00609 hp2 a0001 c0002 t0002 g0001 EAS CHS PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG00621 hp1 a0001 c0001 t0001 g0064 EAS CHS PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG00621 hp2 a0001 c0002 t0002 g0003 EAS CHS PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG00639 hp1 a0001 c0002 t0002 g0002 AMR PUR PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG00639 hp2 a0001 c0001 t0003 g0023 AMR PUR PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG00741 hp1 a0001 c0001 t0001 g0004 AMR PUR PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG00741 hp2 a0001 c0001 t0001 g0012 AMR PUR PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01069 hp1 a0001 c0002 t0002 g0017 AMR PUR PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01069 hp2 a0001 c0001 t0001 g0012 AMR PUR PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01070 hp1 a0001 c0002 t0002 g0186 AMR PUR PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01070 hp2 a0001 c0001 t0001 g0097 AMR PUR PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01071 hp1 a0001 c0002 t0002 g0017 AMR PUR PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01071 hp2 a0001 c0001 t0001 g0004 AMR PUR PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01074 hp1 a0001 c0001 t0001 g0004 AMR PUR PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01074 hp2 a0001 c0002 t0002 g0018 AMR PUR PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01099 hp1 a0001 c0002 t0002 g0001 AMR PUR PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01099 hp2 a0001 c0001 t0001 g0008 AMR PUR PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01106 hp1 a0001 c0002 t0002 g0159 AMR PUR PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01106 hp2 a0001 c0002 t0002 g0038 AMR PUR PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01109 hp1 a0001 c0002 t0002 g0002 AMR PUR PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01109 hp2 a0001 c0002 t0002 g0046 AMR PUR PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01167 hp1 a0001 c0002 t0002 g0017 AMR PUR PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01167 hp2 a0001 c0001 t0001 g0008 AMR PUR PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01168 hp1 a0001 c0001 t0001 g0006 AMR PUR PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01168 hp2 a0001 c0001 t0001 g0026 AMR PUR PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01175 hp1 a0001 c0002 t0002 g0021 AMR PUR PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01175 hp2 a0001 c0001 t0001 g0065 AMR PUR PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01192 hp1 a0001 c0002 t0002 g0039 AMR PUR PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01192 hp2 a0006 c0009 t0002 g0182 AMR PUR PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01243 hp1 a0001 c0002 t0002 g0003 AMR PUR PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01243 hp2 a0001 c0002 t0002 g0190 AMR PUR PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01257 hp1 a0001 c0002 t0002 g0154 AMR CLM PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01257 hp2 a0001 c0001 t0001 g0099 AMR CLM PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01261 hp1 a0001 c0001 t0001 g0074 AMR CLM PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01261 hp2 a0001 c0002 t0002 g0003 AMR CLM PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01346 hp1 a0003 c0004 t0002 g0181 AMR CLM PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01346 hp2 a0001 c0002 t0002 g0005 AMR CLM PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01358 hp1 a0001 c0002 t0002 g0021 AMR CLM PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01358 hp2 a0001 c0002 t0002 g0194 AMR CLM PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01433 hp1 a0001 c0002 t0002 g0007 AMR CLM PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01433 hp2 a0001 c0001 t0001 g0008 AMR CLM PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01496 hp1 a0001 c0001 t0001 g0042 AMR CLM PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01496 hp2 a0001 c0002 t0002 g0016 AMR CLM PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01516 hp1 a0001 c0002 t0002 g0173 EUR IBS PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01516 hp2 a0001 c0001 t0001 g0069 EUR IBS PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01884 hp1 a0001 c0002 t0002 g0148 AFR ACB PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01884 hp2 a0001 c0001 t0001 g0091 AFR ACB PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01891 hp1 a0001 c0001 t0001 g0136 AFR ACB PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01891 hp2 a0001 c0001 t0001 g0032 AFR ACB PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01934 hp1 a0001 c0001 t0001 g0082 AMR PEL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01934 hp2 a0001 c0001 t0001 g0028 AMR PEL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01952 hp1 a0001 c0001 t0001 g0006 AMR PEL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01952 hp2 a0001 c0002 t0002 g0005 AMR PEL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01975 hp1 a0001 c0005 t0001 g0211 AMR PEL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01975 hp2 a0001 c0002 t0002 g0019 AMR PEL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01978 hp1 a0001 c0002 t0002 g0172 AMR PEL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01978 hp2 a0001 c0001 t0001 g0032 AMR PEL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01981 hp1 a0001 c0001 t0001 g0083 AMR PEL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01981 hp2 a0001 c0002 t0002 g0175 AMR PEL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01993 hp1 a0001 c0002 t0002 g0001 AMR PEL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01993 hp2 a0001 c0002 t0002 g0039 AMR PEL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02040 hp1 a0001 c0001 t0001 g0125 EAS KHV PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02040 hp2 a0001 c0001 t0001 g0043 EAS KHV PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02055 hp1 a0001 c0001 t0001 g0133 AFR ACB PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02055 hp2 a0001 c0002 t0002 g0210 AFR ACB PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02071 hp1 a0001 c0001 t0001 g0057 EAS KHV PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02071 hp2 a0001 c0002 t0002 g0007 EAS KHV PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02074 hp1 a0001 c0002 t0002 g0037 EAS KHV PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02074 hp2 a0001 c0001 t0001 g0085 EAS KHV PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02129 hp1 a0001 c0001 t0001 g0004 EAS KHV PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02129 hp2 a0001 c0002 t0002 g0174 EAS KHV PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02135 hp1 a0001 c0002 t0002 g0158 EAS KHV PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02135 hp2 a0001 c0001 t0001 g0068 EAS KHV PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02145 hp1 a0001 c0002 t0002 g0010 AFR ACB PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02145 hp2 a0001 c0001 t0001 g0115 AFR ACB PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02165 hp1 a0001 c0002 t0002 g0005 EAS CDX PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02165 hp2 a0001 c0001 t0001 g0119 EAS CDX PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02257 hp1 a0001 c0002 t0002 g0151 AFR ACB PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02257 hp2 a0001 c0002 t0002 g0035 AFR ACB PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02258 hp1 a0001 c0002 t0002 g0033 AFR ACB PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02258 hp2 a0001 c0001 t0001 g0144 AFR ACB PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02280 hp1 a0001 c0001 t0001 g0139 AFR ACB PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02280 hp2 a0001 c0001 t0001 g0011 AFR ACB PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02293 hp1 a0001 c0002 t0002 g0001 AMR PEL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02293 hp2 a0001 c0001 t0001 g0004 AMR PEL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02451 hp1 a0001 c0001 t0001 g0049 AFR ACB PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02451 hp2 a0001 c0002 t0002 g0164 AFR ACB PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02523 hp1 a0001 c0001 t0001 g0014 EAS KHV PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02523 hp2 a0001 c0002 t0002 g0002 EAS KHV PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02572 hp1 a0001 c0002 t0002 g0038 AFR GWD PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02572 hp2 a0001 c0001 t0001 g0022 AFR GWD PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02602 hp1 a0001 c0002 t0002 g0037 SAS PJL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02602 hp2 a0001 c0002 t0002 g0170 SAS PJL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02615 hp1 a0001 c0002 t0002 g0015 AFR GWD PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02615 hp2 a0001 c0001 t0001 g0127 AFR GWD PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02630 hp1 a0001 c0001 t0001 g0048 AFR GWD PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02630 hp2 a0001 c0002 t0002 g0045 AFR GWD PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02647 hp1 a0001 c0001 t0001 g0008 AFR GWD PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02647 hp2 a0001 c0002 t0002 g0015 AFR GWD PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02683 hp1 a0001 c0002 t0002 g0169 SAS PJL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02683 hp2 a0001 c0001 t0001 g0105 SAS PJL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02698 hp1 a0001 c0002 t0002 g0010 SAS PJL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02698 hp2 a0001 c0002 t0002 g0001 SAS PJL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02717 hp1 a0001 c0002 t0002 g0155 AFR GWD PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02717 hp2 a0001 c0001 t0001 g0111 AFR GWD PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02723 hp1 a0001 c0002 t0002 g0206 AFR GWD PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02723 hp2 a0001 c0002 t0002 g0189 AFR GWD PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02735 hp1 a0001 c0002 t0002 g0003 SAS PJL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02735 hp2 a0001 c0002 t0007 g0187 SAS PJL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02809 hp1 a0001 c0001 t0001 g0104 AFR GWD PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02809 hp2 a0001 c0002 t0002 g0018 AFR GWD PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02818 hp1 a0001 c0002 t0002 g0040 AFR GWD PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02818 hp2 a0001 c0001 t0001 g0143 AFR GWD PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02886 hp1 a0001 c0001 t0001 g0011 AFR GWD PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02886 hp2 a0001 c0002 t0002 g0035 AFR GWD PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02895 hp1 a0001 c0002 t0002 g0209 AFR GWD PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02895 hp2 a0001 c0001 t0001 g0116 AFR GWD PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02896 hp1 a0001 c0002 t0002 g0015 AFR GWD PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02896 hp2 a0001 c0001 t0001 g0075 AFR GWD PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02897 hp1 a0001 c0002 t0002 g0207 AFR GWD PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02897 hp2 a0001 c0001 t0001 g0025 AFR GWD PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02922 hp1 a0001 c0002 t0002 g0009 AFR ESN PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02922 hp2 a0001 c0001 t0001 g0022 AFR ESN PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02965 hp1 a0001 c0001 t0001 g0072 AFR ESN PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02965 hp2 a0001 c0002 t0002 g0005 AFR ESN PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02970 hp1 a0001 c0001 t0001 g0137 AFR ESN PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02970 hp2 a0001 c0002 t0002 g0009 AFR ESN PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02976 hp1 a0001 c0002 t0002 g0208 AFR ESN PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02976 hp2 a0001 c0001 t0001 g0114 AFR ESN PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG03130 hp1 a0001 c0002 t0002 g0034 AFR ESN PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG03130 hp2 a0001 c0002 t0002 g0205 AFR ESN PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG03195 hp1 a0001 c0001 t0001 g0135 AFR ESN PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG03195 hp2 a0001 c0002 t0002 g0204 AFR ESN PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG03209 hp1 a0001 c0002 t0002 g0005 AFR MSL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG03209 hp2 a0001 c0002 t0002 g0167 AFR MSL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG03225 hp1 a0001 c0002 t0002 g0036 AFR MSL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG03225 hp2 a0001 c0001 t0001 g0128 AFR MSL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG03239 hp1 a0001 c0001 t0001 g0138 SAS PJL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG03239 hp2 a0001 c0001 t0001 g0026 SAS PJL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG03453 hp1 a0001 c0002 t0002 g0162 AFR MSL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG03453 hp2 a0001 c0001 t0001 g0053 AFR MSL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG03486 hp1 a0001 c0001 t0001 g0120 AFR MSL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG03486 hp2 a0001 c0001 t0001 g0052 AFR MSL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG03490 hp1 a0001 c0002 t0002 g0179 SAS PJL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG03490 hp2 a0001 c0001 t0001 g0024 SAS PJL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG03491 hp1 a0001 c0001 t0001 g0030 SAS PJL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG03491 hp2 a0001 c0002 t0002 g0003 SAS PJL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG03492 hp1 a0001 c0001 t0001 g0024 SAS PJL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG03492 hp2 a0001 c0002 t0002 g0003 SAS PJL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG03516 hp1 a0001 c0002 t0002 g0149 AFR ESN PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG03516 hp2 a0001 c0001 t0001 g0109 AFR ESN PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG03540 hp1 a0001 c0002 t0002 g0191 AFR GWD PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG03540 hp2 a0001 c0001 t0001 g0025 AFR GWD PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG03579 hp1 a0001 c0001 t0001 g0213 AFR MSL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG03579 hp2 a0001 c0002 t0002 g0036 AFR MSL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG03654 hp1 a0007 c0008 t0001 g0087 SAS PJL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG03654 hp2 a0001 c0001 t0001 g0055 SAS PJL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG03688 hp1 a0001 c0002 t0002 g0020 SAS STU PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG03688 hp2 a0001 c0001 t0001 g0004 SAS STU PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG03710 hp1 a0001 c0001 t0001 g0141 SAS PJL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG03710 hp2 a0001 c0002 t0002 g0196 SAS PJL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG03831 hp1 a0001 c0002 t0002 g0033 SAS BEB PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG03831 hp2 a0001 c0001 t0001 g0081 SAS BEB PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG03834 hp1 a0001 c0005 t0001 g0212 SAS BEB PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG03834 hp2 a0001 c0001 t0001 g0076 SAS BEB PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG03927 hp1 a0001 c0002 t0002 g0163 SAS BEB PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG03927 hp2 a0001 c0001 t0001 g0066 SAS BEB PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG03942 hp1 a0001 c0002 t0002 g0157 SAS BEB PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG03942 hp2 a0001 c0001 t0001 g0004 SAS BEB PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG04115 hp1 a0001 c0002 t0002 g0005 SAS STU PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG04115 hp2 a0001 c0002 t0002 g0010 SAS STU PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG04199 hp1 a0001 c0001 t0001 g0078 SAS STU PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG04199 hp2 a0001 c0002 t0002 g0016 SAS STU PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG04228 hp1 a0001 c0001 t0001 g0103 SAS STU PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG04228 hp2 a0001 c0002 t0002 g0007 SAS STU PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18522 hp1 a0001 c0001 t0001 g0098 AFR YRI PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18522 hp2 a0001 c0002 t0002 g0168 AFR YRI PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18612 hp1 a0001 c0002 t0002 g0201 EAS CHB PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18612 hp2 a0001 c0001 t0001 g0131 EAS CHB PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18747 hp1 a0001 c0002 t0002 g0002 EAS CHB PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18747 hp2 a0001 c0001 t0001 g0006 EAS CHB PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18906 hp1 a0001 c0001 t0001 g0107 AFR YRI PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18906 hp2 a0001 c0002 t0002 g0019 AFR YRI PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18942 hp1 a0001 c0001 t0001 g0077 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18942 hp2 a0001 c0001 t0001 g0073 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18943 hp1 a0001 c0002 t0002 g0177 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18943 hp2 a0001 c0001 t0001 g0031 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18944 hp1 a0001 c0001 t0001 g0117 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18944 hp2 a0002 c0003 t0001 g0090 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18946 hp1 a0001 c0002 t0002 g0199 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18946 hp2 a0001 c0001 t0001 g0012 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18951 hp1 a0001 c0002 t0005 g0192 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18951 hp2 a0001 c0001 t0001 g0029 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18954 hp1 a0001 c0001 t0001 g0140 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18954 hp2 a0001 c0002 t0002 g0184 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18956 hp1 a0001 c0002 t0002 g0002 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18956 hp2 a0001 c0001 t0001 g0092 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18957 hp1 a0001 c0002 t0002 g0003 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18957 hp2 a0008 c0006 t0001 g0041 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18959 hp1 a0001 c0001 t0001 g0029 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18959 hp2 a0001 c0002 t0002 g0188 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18960 hp1 a0001 c0001 t0001 g0142 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18960 hp2 a0001 c0001 t0001 g0134 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18962 hp1 a0001 c0002 t0002 g0193 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18962 hp2 a0002 c0003 t0001 g0079 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18963 hp1 a0001 c0001 t0001 g0096 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18963 hp2 a0001 c0001 t0001 g0004 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18964 hp1 a0001 c0002 t0002 g0002 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18964 hp2 a0001 c0001 t0001 g0089 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18970 hp1 a0001 c0001 t0001 g0110 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18970 hp2 a0001 c0002 t0002 g0002 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18973 hp1 a0001 c0002 t0002 g0003 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18973 hp2 a0001 c0001 t0001 g0006 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18977 hp1 a0001 c0002 t0002 g0160 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18977 hp2 a0001 c0001 t0001 g0130 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18979 hp1 a0001 c0002 t0002 g0020 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18979 hp2 a0001 c0001 t0001 g0061 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18980 hp1 a0001 c0002 t0002 g0040 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18980 hp2 a0001 c0001 t0001 g0030 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18981 hp1 a0001 c0002 t0002 g0005 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18981 hp2 a0001 c0001 t0001 g0050 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18983 hp1 a0001 c0002 t0002 g0195 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18983 hp2 a0001 c0001 t0001 g0031 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18984 hp1 a0001 c0001 t0001 g0101 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18984 hp2 a0001 c0002 t0002 g0180 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18985 hp1 a0001 c0002 t0002 g0153 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18985 hp2 a0001 c0001 t0001 g0063 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18990 hp1 a0001 c0001 t0001 g0027 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18990 hp2 a0001 c0002 t0002 g0016 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18992 hp1 a0001 c0002 t0002 g0003 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18992 hp2 a0001 c0001 t0001 g0084 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18994 hp1 a0001 c0001 t0001 g0051 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18994 hp2 a0001 c0001 t0001 g0028 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18995 hp1 a0001 c0002 t0002 g0020 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18995 hp2 a0001 c0001 t0001 g0118 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18999 hp1 a0001 c0001 t0001 g0102 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA18999 hp2 a0001 c0002 t0002 g0002 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA19000 hp1 a0001 c0001 t0001 g0071 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA19000 hp2 a0001 c0001 t0001 g0070 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA19002 hp1 a0001 c0001 t0001 g0027 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA19002 hp2 a0001 c0002 t0002 g0197 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA19003 hp1 a0001 c0001 t0001 g0006 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA19003 hp2 a0005 c0007 t0002 g0185 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA19010 hp1 a0001 c0001 t0001 g0132 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA19010 hp2 a0001 c0001 t0001 g0214 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA19011 hp1 a0001 c0001 t0008 g0215 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA19011 hp2 a0001 c0002 t0002 g0001 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA19030 hp1 a0001 c0002 t0002 g0044 AFR LWK PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA19030 hp2 a0001 c0001 t0001 g0088 AFR LWK PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA19043 hp1 a0001 c0001 t0001 g0121 AFR LWK PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA19043 hp2 a0001 c0001 t0004 g0122 AFR LWK PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA19054 hp1 a0001 c0001 t0001 g0113 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA19054 hp2 a0001 c0002 t0002 g0161 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA19056 hp1 a0001 c0001 t0001 g0013 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA19056 hp2 a0001 c0002 t0006 g0183 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA19057 hp1 a0001 c0001 t0001 g0014 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA19057 hp2 a0001 c0002 t0002 g0203 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA19058 hp1 a0001 c0002 t0002 g0150 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA19058 hp2 a0001 c0001 t0001 g0106 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA19063 hp1 a0001 c0001 t0001 g0058 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA19063 hp2 a0002 c0003 t0001 g0080 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA19067 hp1 a0001 c0002 t0002 g0152 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA19067 hp2 a0001 c0001 t0001 g0067 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA19068 hp1 a0001 c0001 t0001 g0124 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA19068 hp2 a0001 c0002 t0002 g0018 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA19070 hp1 a0001 c0001 t0001 g0145 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA19070 hp2 a0001 c0001 t0001 g0146 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA19074 hp1 a0004 c0010 t0001 g0059 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA19074 hp2 a0001 c0002 t0002 g0002 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA19077 hp1 a0001 c0002 t0002 g0156 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA19077 hp2 a0001 c0001 t0001 g0126 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA19082 hp1 a0001 c0002 t0002 g0200 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA19082 hp2 a0001 c0001 t0001 g0013 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA19088 hp1 a0001 c0002 t0002 g0178 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA19088 hp2 a0001 c0002 t0002 g0001 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA19090 hp1 a0001 c0002 t0002 g0007 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA19090 hp2 a0001 c0001 t0001 g0094 EAS JPT PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA19240 hp1 a0001 c0001 t0001 g0014 AFR YRI PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA19240 hp2 a0001 c0002 t0002 g0147 AFR YRI PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA20752 hp1 a0001 c0001 t0001 g0006 EUR TSI PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA20752 hp2 a0001 c0002 t0002 g0001 EUR TSI PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA20905 hp1 a0001 c0001 t0001 g0086 SAS GIH PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA20905 hp2 a0001 c0002 t0002 g0007 SAS GIH PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01123 hp1 a0001 c0002 t0002 g0166 AMR CLM PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG01123 hp2 a0001 c0002 t0002 g0009 AMR CLM PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02486 hp1 a0001 c0002 t0002 g0010 AFR ACB PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02486 hp2 a0001 c0001 t0001 g0056 AFR ACB PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02559 hp1 a0001 c0002 t0002 g0009 AFR ACB PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG02559 hp2 a0001 c0001 t0001 g0129 AFR ACB PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG03471 hp1 a0001 c0002 t0002 g0202 AFR MSL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG03471 hp2 a0001 c0001 t0001 g0047 AFR MSL PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG06807 hp1 a0001 c0001 t0001 g0011 AFR USA PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
HG06807 hp2 a0001 c0002 t0002 g0019 AFR USA PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA20300 hp1 a0001 c0002 t0002 g0171 AFR USA PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA20300 hp2 a0001 c0002 t0002 g0034 AFR USA PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA21309 hp1 a0001 c0001 t0001 g0054 AFR LWK PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
NA21309 hp2 a0001 c0001 t0001 g0100 AFR LWK PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438
homoSapiens_chm13v2 hp1 a0001 c0002 t0002 g0198 REF REF PKLR_chr1_155284293_155306438 PKLR chr1 155284293 155306438

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
chr1:155291858 C
C
T
T
1 a0007
a0007
1 HG03654.hp1
HG03654.hp1
missense_variant MODERATE c.1516G>A
c.1516G>A
p.Val506Ile
p.Val506Ile
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 10/11 1559/3047 1516/1725 506/574 chr1 155291858
chr1:155291918 G
G
A
A
1 a0003
a0003
2 HG00280.hp1
HG01346.hp1
HG00280.hp1
HG01346.hp1
missense_variant MODERATE c.1456C>T
c.1456C>T
p.Arg486Trp
p.Arg486Trp
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 10/11 1499/3047 1456/1725 486/574 chr1 155291918
chr1:155293178 G
G
A
A
1 a0006
a0006
1 HG01192.hp2
HG01192.hp2
missense_variant&splice_region_variant MODERATE c.1435C>T
c.1435C>T
p.Arg479Cys
p.Arg479Cys
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 9/11 1478/3047 1435/1725 479/574 chr1 155293178
chr1:155293234 A
A
G
G
1 a0002
a0002
3 NA18944.hp2
NA18962.hp2
NA19063.hp2
NA18944.hp2
NA18962.hp2
NA19063.hp2
missense_variant MODERATE c.1379T>C
c.1379T>C
p.Val460Ala
p.Val460Ala
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 9/11 1422/3047 1379/1725 460/574 chr1 155293234
chr1:155293554 TCGTTGGC
others(10): Show 
TCGTTGGCCGGGGCTTGG
T
T
1 a0005
a0005
1 NA19003.hp2
NA19003.hp2
frameshift_variant HIGH c.1136_1152delCCAAGC
others(11): Show 
c.1136_1152delCCAAGCCCCGGCCAACG
p.Thr379fs
p.Thr379fs
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 8/11 1195/3047 1136/1725 379/574 chr1 155293554
chr1:155294642 C
C
A
A
1 a0004
a0004
1 NA19074.hp1
NA19074.hp1
missense_variant MODERATE c.805G>T
c.805G>T
p.Val269Phe
p.Val269Phe
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 6/11 848/3047 805/1725 269/574 chr1 155294642
chr1:155301304 G
G
A
A
1 a0008
a0008
1 NA18957.hp2
NA18957.hp2
missense_variant MODERATE c.92C>T
c.92C>T
p.Ala31Val
p.Ala31Val
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 1/11 135/3047 92/1725 31/574 chr1 155301304
chr1:155301305 C
C
G
G
1 a0008
a0008
1 NA18957.hp2
NA18957.hp2
missense_variant MODERATE c.91G>C
c.91G>C
p.Ala31Pro
p.Ala31Pro
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 1/11 134/3047 91/1725 31/574 chr1 155301305

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
chr1:155290592 G
G
T
T
6 a0001c0001
a0001c0005
a0002c0003
others(3): Show 
a0001c0001
a0001c0005
a0002c0003
a0004c0010
a0007c0008
a0008c0006
160 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(157): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00408.hp1
HG00438.hp1
HG00438.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01099.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01257.hp2
HG01261.hp1
HG01433.hp2
HG01496.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp2
HG02165.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03688.hp2
HG03710.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp2
HG04199.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18970.hp1
NA18973.hp2
NA18977.hp2
NA18979.hp2
NA18980.hp2
NA18981.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18990.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19063.hp1
NA19063.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19077.hp2
NA19082.hp2
NA19090.hp2
NA19240.hp1
NA20752.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
synonymous_variant LOW c.1705C>A
c.1705C>A
p.Arg569Arg
p.Arg569Arg
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 11/11 1748/3047 1705/1725 569/574 chr1 155290592
chr1:155300200 G
G
A
A
1 a0001c0005
a0001c0005
2 HG01975.hp1
HG03834.hp1
HG01975.hp1
HG03834.hp1
synonymous_variant LOW c.181C>T
c.181C>T
p.Leu61Leu
p.Leu61Leu
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/11 224/3047 181/1725 61/574 chr1 155300200

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
chr1:155289353 T
T
C
C
1 a0001c0002t0006
a0001c0002t0006
1 NA19056.hp2
NA19056.hp2
3_prime_UTR_variant MODIFIER c.*1219A>G
c.*1219A>G
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 11/11 1219 chr1 155289353
chr1:155289356 C
C
T
T
1 a0001c0001t0004
a0001c0001t0004
1 NA19043.hp2
NA19043.hp2
3_prime_UTR_variant MODIFIER c.*1216G>A
c.*1216G>A
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 11/11 1216 chr1 155289356
chr1:155289532 C
C
T
T
9 a0001c0001t0001
a0001c0001t0003
a0001c0001t0004
others(6): Show 
a0001c0001t0001
a0001c0001t0003
a0001c0001t0004
a0001c0001t0008
a0001c0005t0001
a0002c0003t0001
a0004c0010t0001
a0007c0008t0001
a0008c0006t0001
160 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(157): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00408.hp1
HG00438.hp1
HG00438.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01099.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01257.hp2
HG01261.hp1
HG01433.hp2
HG01496.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp2
HG02165.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03688.hp2
HG03710.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp2
HG04199.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18970.hp1
NA18973.hp2
NA18977.hp2
NA18979.hp2
NA18980.hp2
NA18981.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18990.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19063.hp1
NA19063.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19077.hp2
NA19082.hp2
NA19090.hp2
NA19240.hp1
NA20752.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
3_prime_UTR_variant MODIFIER c.*1040G>A
c.*1040G>A
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 11/11 1040 chr1 155289532
chr1:155289679 A
A
C
C
1 a0001c0001t0003
a0001c0001t0003
2 HG00099.hp2
HG00639.hp2
HG00099.hp2
HG00639.hp2
3_prime_UTR_variant MODIFIER c.*893T>G
c.*893T>G
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 11/11 893 chr1 155289679
chr1:155289990 C
C
T
T
1 a0001c0002t0005
a0001c0002t0005
1 NA18951.hp1
NA18951.hp1
3_prime_UTR_variant MODIFIER c.*582G>A
c.*582G>A
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 11/11 582 chr1 155289990
chr1:155290230 G
G
A
A
1 a0001c0002t0007
a0001c0002t0007
1 HG02735.hp2
HG02735.hp2
3_prime_UTR_variant MODIFIER c.*342C>T
c.*342C>T
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 11/11 342 chr1 155290230
chr1:155290305 G
G
A
A
9 a0001c0001t0001
a0001c0001t0003
a0001c0001t0004
others(6): Show 
a0001c0001t0001
a0001c0001t0003
a0001c0001t0004
a0001c0001t0008
a0001c0005t0001
a0002c0003t0001
a0004c0010t0001
a0007c0008t0001
a0008c0006t0001
160 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(157): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00408.hp1
HG00438.hp1
HG00438.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01099.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01257.hp2
HG01261.hp1
HG01433.hp2
HG01496.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp2
HG02165.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03688.hp2
HG03710.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp2
HG04199.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18970.hp1
NA18973.hp2
NA18977.hp2
NA18979.hp2
NA18980.hp2
NA18981.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18990.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19063.hp1
NA19063.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19077.hp2
NA19082.hp2
NA19090.hp2
NA19240.hp1
NA20752.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
3_prime_UTR_variant MODIFIER c.*267C>T
c.*267C>T
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 11/11 267 chr1 155290305
chr1:155290559 A
A
G
G
9 a0001c0001t0001
a0001c0001t0003
a0001c0001t0004
others(6): Show 
a0001c0001t0001
a0001c0001t0003
a0001c0001t0004
a0001c0001t0008
a0001c0005t0001
a0002c0003t0001
a0004c0010t0001
a0007c0008t0001
a0008c0006t0001
160 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(157): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00408.hp1
HG00438.hp1
HG00438.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01099.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01257.hp2
HG01261.hp1
HG01433.hp2
HG01496.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp2
HG02165.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03688.hp2
HG03710.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp2
HG04199.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18970.hp1
NA18973.hp2
NA18977.hp2
NA18979.hp2
NA18980.hp2
NA18981.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18990.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19063.hp1
NA19063.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19077.hp2
NA19082.hp2
NA19090.hp2
NA19240.hp1
NA20752.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
3_prime_UTR_variant MODIFIER c.*13T>C
c.*13T>C
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 11/11 13 chr1 155290559
chr1:155301433 T
T
A
A
1 a0001c0001t0008
a0001c0001t0008
1 NA19011.hp1
NA19011.hp1
5_prime_UTR_variant MODIFIER c.-38A>T
c.-38A>T
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 1/11 38 chr1 155301433

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
chr1:155290793 A
A
G
G
1 a0001c0002t0002g0170
a0001c0002t0002g0170
1 HG02602.hp2
HG02602.hp2
intron_variant MODIFIER c.1619-115T>C
c.1619-115T>C
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 10/10 chr1 155290793
chr1:155290805 A
A
G
G
7 a0001c0002t0002g0204
a0001c0002t0002g0205
a0001c0002t0002g0206
others(4): Show 
a0001c0002t0002g0204
a0001c0002t0002g0205
a0001c0002t0002g0206
a0001c0002t0002g0207
a0001c0002t0002g0208
a0001c0002t0002g0209
a0001c0002t0002g0210
7 HG02055.hp2
HG02723.hp1
HG02895.hp1
others(4): Show 
HG02055.hp2
HG02723.hp1
HG02895.hp1
HG02897.hp1
HG02976.hp1
HG03130.hp2
HG03195.hp2
intron_variant MODIFIER c.1619-127T>C
c.1619-127T>C
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 10/10 chr1 155290805
chr1:155290827 G
G
A
A
7 a0001c0002t0002g0204
a0001c0002t0002g0205
a0001c0002t0002g0206
others(4): Show 
a0001c0002t0002g0204
a0001c0002t0002g0205
a0001c0002t0002g0206
a0001c0002t0002g0207
a0001c0002t0002g0208
a0001c0002t0002g0209
a0001c0002t0002g0210
7 HG02055.hp2
HG02723.hp1
HG02895.hp1
others(4): Show 
HG02055.hp2
HG02723.hp1
HG02895.hp1
HG02897.hp1
HG02976.hp1
HG03130.hp2
HG03195.hp2
intron_variant MODIFIER c.1619-149C>T
c.1619-149C>T
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 10/10 chr1 155290827
chr1:155290834 C
C
T
T
8 a0001c0001t0001g0126
a0001c0002t0002g0204
a0001c0002t0002g0205
others(5): Show 
a0001c0001t0001g0126
a0001c0002t0002g0204
a0001c0002t0002g0205
a0001c0002t0002g0206
a0001c0002t0002g0207
a0001c0002t0002g0208
a0001c0002t0002g0209
a0001c0002t0002g0210
8 HG02055.hp2
HG02723.hp1
HG02895.hp1
others(5): Show 
HG02055.hp2
HG02723.hp1
HG02895.hp1
HG02897.hp1
HG02976.hp1
HG03130.hp2
HG03195.hp2
NA19077.hp2
intron_variant MODIFIER c.1619-156G>A
c.1619-156G>A
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 10/10 chr1 155290834
chr1:155290840 T
T
C
C
1 a0001c0002t0002g0152
a0001c0002t0002g0152
1 NA19067.hp1
NA19067.hp1
intron_variant MODIFIER c.1619-162A>G
c.1619-162A>G
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 10/10 chr1 155290840
chr1:155290858 G
G
A
A
1 a0001c0001t0001g0066
a0001c0001t0001g0066
1 HG03927.hp2
HG03927.hp2
intron_variant MODIFIER c.1619-180C>T
c.1619-180C>T
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 10/10 chr1 155290858
chr1:155290861 T
T
C
C
1 a0001c0001t0001g0066
a0001c0001t0001g0066
1 HG03927.hp2
HG03927.hp2
intron_variant MODIFIER c.1619-183A>G
c.1619-183A>G
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 10/10 chr1 155290861
chr1:155290878 A
A
G
G
3 a0001c0002t0002g0207
a0001c0002t0002g0208
a0001c0002t0002g0209
a0001c0002t0002g0207
a0001c0002t0002g0208
a0001c0002t0002g0209
3 HG02895.hp1
HG02897.hp1
HG02976.hp1
HG02895.hp1
HG02897.hp1
HG02976.hp1
intron_variant MODIFIER c.1619-200T>C
c.1619-200T>C
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 10/10 chr1 155290878
chr1:155290903 C
C
T
T
2 a0001c0002t0002g0180
a0001c0002t0002g0195
a0001c0002t0002g0180
a0001c0002t0002g0195
2 NA18983.hp1
NA18984.hp2
NA18983.hp1
NA18984.hp2
intron_variant MODIFIER c.1619-225G>A
c.1619-225G>A
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 10/10 chr1 155290903
chr1:155290951 T
T
C
C
1 a0001c0002t0005g0192
a0001c0002t0005g0192
1 NA18951.hp1
NA18951.hp1
intron_variant MODIFIER c.1619-273A>G
c.1619-273A>G
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 10/10 chr1 155290951
chr1:155290974 C
C
A
A
1 a0001c0002t0002g0188
a0001c0002t0002g0188
1 NA18959.hp2
NA18959.hp2
intron_variant MODIFIER c.1619-296G>T
c.1619-296G>T
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 10/10 chr1 155290974
chr1:155290989 AAAT
AAAT
A
A
20 a0001c0001t0001g0098
a0001c0001t0001g0107
a0001c0001t0001g0109
others(17): Show 
a0001c0001t0001g0098
a0001c0001t0001g0107
a0001c0001t0001g0109
a0001c0001t0001g0115
a0001c0001t0001g0213
a0001c0002t0002g0015
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0038
a0001c0002t0002g0040
a0001c0002t0002g0155
a0001c0002t0002g0168
a0001c0002t0002g0171
a0001c0002t0002g0175
a0001c0002t0002g0179
a0001c0002t0002g0189
a0001c0002t0002g0191
a0001c0002t0002g0198
a0001c0002t0002g0207
a0001c0002t0002g0209
26 HG01106.hp2
HG01981.hp2
HG02145.hp2
others(23): Show 
HG01106.hp2
HG01981.hp2
HG02145.hp2
HG02257.hp2
HG02572.hp1
HG02615.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG03130.hp1
HG03490.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18980.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.1619-314_1619-312d
others(5): Show 
c.1619-314_1619-312delATT
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 10/10 chr1 155290989
chr1:155290989 AAATAAT
AAATAAT
A
A
19 a0001c0001t0001g0025
a0001c0001t0001g0056
a0001c0001t0001g0075
others(16): Show 
a0001c0001t0001g0025
a0001c0001t0001g0056
a0001c0001t0001g0075
a0001c0001t0001g0140
a0001c0002t0002g0005
a0001c0002t0002g0010
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0021
a0001c0002t0002g0033
a0001c0002t0002g0163
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0177
a0001c0002t0002g0180
a0001c0002t0002g0193
a0001c0002t0002g0200
a0001c0002t0002g0201
a0001c0002t0002g0204
36 HG00408.hp2
HG01074.hp2
HG01175.hp1
others(33): Show 
HG00408.hp2
HG01074.hp2
HG01175.hp1
HG01346.hp2
HG01358.hp1
HG01516.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02145.hp1
HG02165.hp1
HG02258.hp1
HG02486.hp1
HG02486.hp2
HG02698.hp1
HG02809.hp2
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG03195.hp2
HG03209.hp1
HG03540.hp2
HG03831.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG06807.hp2
NA18612.hp1
NA18906.hp2
NA18943.hp1
NA18954.hp1
NA18962.hp1
NA18981.hp1
NA18984.hp2
NA19068.hp2
NA19082.hp1
intron_variant MODIFIER c.1619-317_1619-312d
others(8): Show 
c.1619-317_1619-312delATTATT
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 10/10 chr1 155290989
chr1:155290989 AAATAATA
others(2): Show 
AAATAATAAT
A
A
52 a0001c0001t0001g0047
a0001c0001t0001g0054
a0001c0001t0001g0072
others(49): Show 
a0001c0001t0001g0047
a0001c0001t0001g0054
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0110
a0001c0001t0001g0117
a0001c0001t0001g0125
a0001c0001t0001g0132
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0008g0215
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0003
a0001c0002t0002g0007
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0020
a0001c0002t0002g0039
a0001c0002t0002g0150
a0001c0002t0002g0151
a0001c0002t0002g0152
a0001c0002t0002g0153
a0001c0002t0002g0156
a0001c0002t0002g0158
a0001c0002t0002g0160
a0001c0002t0002g0161
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0169
a0001c0002t0002g0170
a0001c0002t0002g0174
a0001c0002t0002g0178
a0001c0002t0002g0184
a0001c0002t0002g0186
a0001c0002t0002g0188
a0001c0002t0002g0194
a0001c0002t0002g0195
a0001c0002t0002g0196
a0001c0002t0002g0197
a0001c0002t0002g0203
a0001c0002t0005g0192
a0001c0002t0006g0183
a0001c0002t0007g0187
a0003c0004t0002g0176
a0003c0004t0002g0181
a0005c0007t0002g0185
a0006c0009t0002g0182
87 HG00140.hp2
HG00280.hp1
HG00609.hp1
others(84): Show 
HG00140.hp2
HG00280.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01099.hp1
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp2
HG01993.hp1
HG01993.hp2
HG02040.hp1
HG02071.hp2
HG02074.hp2
HG02129.hp2
HG02135.hp1
HG02257.hp1
HG02258.hp2
HG02293.hp1
HG02523.hp2
HG02602.hp2
HG02683.hp1
HG02698.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp2
HG02965.hp1
HG03471.hp2
HG03491.hp2
HG03492.hp2
HG03688.hp1
HG03710.hp2
HG04199.hp2
HG04228.hp2
NA18747.hp1
NA18944.hp1
NA18951.hp1
NA18954.hp2
NA18956.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp1
NA18964.hp1
NA18970.hp1
NA18970.hp2
NA18973.hp1
NA18977.hp1
NA18979.hp1
NA18983.hp1
NA18985.hp1
NA18990.hp2
NA18992.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19002.hp2
NA19003.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19054.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp1
NA19067.hp1
NA19074.hp2
NA19077.hp1
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp1
intron_variant MODIFIER c.1619-320_1619-312d
others(11): Show 
c.1619-320_1619-312delATTATTATT
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 10/10 chr1 155290989
chr1:155290989 AAATAATA
others(5): Show 
AAATAATAATAAT
A
A
23 a0001c0001t0001g0013
a0001c0001t0001g0053
a0001c0001t0001g0058
others(20): Show 
a0001c0001t0001g0013
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0089
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0111
a0001c0001t0001g0112
a0001c0001t0001g0118
a0001c0001t0001g0120
a0001c0001t0001g0123
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0002t0002g0037
a0001c0002t0002g0159
a0001c0002t0002g0208
a0008c0006t0001g0041
26 HG00099.hp1
HG00140.hp1
HG00438.hp1
others(23): Show 
HG00099.hp1
HG00140.hp1
HG00438.hp1
HG00597.hp2
HG01106.hp1
HG01934.hp1
HG02074.hp1
HG02135.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp2
HG02717.hp2
HG02976.hp1
HG03453.hp2
HG03486.hp1
HG03710.hp1
HG04228.hp1
NA18956.hp2
NA18957.hp2
NA18964.hp2
NA18995.hp2
NA19056.hp1
NA19063.hp1
NA19082.hp2
NA20905.hp1
NA21309.hp2
intron_variant MODIFIER c.1619-323_1619-312d
others(14): Show 
c.1619-323_1619-312delATTATTATTATT
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 10/10 chr1 155290989
chr1:155290989 AAATAATA
others(8): Show 
AAATAATAATAATAAT
A
A
74 a0001c0001t0001g0004
a0001c0001t0001g0006
a0001c0001t0001g0008
others(71): Show 
a0001c0001t0001g0004
a0001c0001t0001g0006
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0022
a0001c0001t0001g0024
a0001c0001t0001g0026
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0091
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0104
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0113
a0001c0001t0001g0116
a0001c0001t0001g0119
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0214
a0001c0001t0003g0023
a0001c0001t0004g0122
a0001c0005t0001g0211
a0001c0005t0001g0212
a0002c0003t0001g0079
a0002c0003t0001g0080
a0002c0003t0001g0090
a0004c0010t0001g0059
a0007c0008t0001g0087
103 HG00099.hp2
HG00280.hp2
HG00408.hp1
others(100): Show 
HG00099.hp2
HG00280.hp2
HG00408.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01099.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01257.hp2
HG01433.hp2
HG01496.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp1
HG02129.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp2
HG02630.hp1
HG02647.hp1
HG02809.hp1
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02970.hp1
HG03195.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp2
HG03490.hp2
HG03492.hp1
HG03654.hp1
HG03654.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp2
HG04199.hp1
HG06807.hp1
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18959.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18973.hp2
NA18977.hp2
NA18979.hp2
NA18981.hp2
NA18983.hp2
NA18984.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19010.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19057.hp1
NA19058.hp2
NA19063.hp2
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19240.hp1
NA20752.hp1
intron_variant MODIFIER c.1619-326_1619-312d
others(17): Show 
c.1619-326_1619-312delATTATTATTATTATT
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 10/10 chr1 155290989
chr1:155290989 AAATAATA
others(14): Show 
AAATAATAATAATAATAATAAT
A
A
7 a0001c0002t0002g0044
a0001c0002t0002g0045
a0001c0002t0002g0046
others(4): Show 
a0001c0002t0002g0044
a0001c0002t0002g0045
a0001c0002t0002g0046
a0001c0002t0002g0147
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0202
7 HG01109.hp2
HG01884.hp1
HG02630.hp2
others(4): Show 
HG01109.hp2
HG01884.hp1
HG02630.hp2
HG03471.hp1
HG03516.hp1
NA19030.hp1
NA19240.hp2
intron_variant MODIFIER c.1619-332_1619-312d
others(23): Show 
c.1619-332_1619-312delATTATTATTATTATTATTATT
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 10/10 chr1 155290989
chr1:155290989 AAATAATA
others(17): Show 
AAATAATAATAATAATAATAATAAT
A
A
7 a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0063
others(4): Show 
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0094
a0001c0001t0001g0126
9 HG00621.hp1
HG03491.hp1
NA18980.hp2
others(6): Show 
HG00621.hp1
HG03491.hp1
NA18980.hp2
NA18985.hp2
NA18990.hp1
NA19002.hp1
NA19067.hp2
NA19077.hp2
NA19090.hp2
intron_variant MODIFIER c.1619-335_1619-312d
others(26): Show 
c.1619-335_1619-312delATTATTATTATTATTATTATTATT
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 10/10 chr1 155290989
chr1:155291100 C
C
T
T
7 a0001c0002t0002g0204
a0001c0002t0002g0205
a0001c0002t0002g0206
others(4): Show 
a0001c0002t0002g0204
a0001c0002t0002g0205
a0001c0002t0002g0206
a0001c0002t0002g0207
a0001c0002t0002g0208
a0001c0002t0002g0209
a0001c0002t0002g0210
7 HG02055.hp2
HG02723.hp1
HG02895.hp1
others(4): Show 
HG02055.hp2
HG02723.hp1
HG02895.hp1
HG02897.hp1
HG02976.hp1
HG03130.hp2
HG03195.hp2
intron_variant MODIFIER c.1619-422G>A
c.1619-422G>A
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 10/10 chr1 155291100
chr1:155291180 G
G
A
A
1 a0001c0001t0001g0095
a0001c0001t0001g0095
1 HG00438.hp2
HG00438.hp2
intron_variant MODIFIER c.1619-502C>T
c.1619-502C>T
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 10/10 chr1 155291180
chr1:155291226 G
G
A
A
2 a0001c0001t0001g0119
a0001c0001t0001g0146
a0001c0001t0001g0119
a0001c0001t0001g0146
2 HG02165.hp2
NA19070.hp2
HG02165.hp2
NA19070.hp2
intron_variant MODIFIER c.1618+530C>T
c.1618+530C>T
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 10/10 chr1 155291226
chr1:155291303 C
C
T
T
3 a0001c0001t0001g0025
a0001c0001t0001g0056
a0001c0001t0001g0075
a0001c0001t0001g0025
a0001c0001t0001g0056
a0001c0001t0001g0075
4 HG02486.hp2
HG02896.hp2
HG02897.hp2
others(1): Show 
HG02486.hp2
HG02896.hp2
HG02897.hp2
HG03540.hp2
intron_variant MODIFIER c.1618+453G>A
c.1618+453G>A
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 10/10 chr1 155291303
chr1:155291365 G
G
A
A
1 a0001c0001t0001g0042
a0001c0001t0001g0042
1 HG01496.hp1
HG01496.hp1
intron_variant MODIFIER c.1618+391C>T
c.1618+391C>T
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 10/10 chr1 155291365
chr1:155291412 C
C
T
T
3 a0001c0002t0002g0147
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0147
a0001c0002t0002g0148
a0001c0002t0002g0149
3 HG01884.hp1
HG03516.hp1
NA19240.hp2
HG01884.hp1
HG03516.hp1
NA19240.hp2
intron_variant MODIFIER c.1618+344G>A
c.1618+344G>A
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 10/10 chr1 155291412
chr1:155291444 C
C
A
A
2 a0001c0001t0001g0133
a0001c0001t0001g0139
a0001c0001t0001g0133
a0001c0001t0001g0139
2 HG02055.hp1
HG02280.hp1
HG02055.hp1
HG02280.hp1
intron_variant MODIFIER c.1618+312G>T
c.1618+312G>T
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 10/10 chr1 155291444
chr1:155291957 T
T
C
C
1 a0001c0002t0002g0189
a0001c0002t0002g0189
1 HG02723.hp2
HG02723.hp2
intron_variant MODIFIER c.1437-20A>G
c.1437-20A>G
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 9/10 chr1 155291957
chr1:155291986 C
C
T
T
72 a0001c0001t0001g0004
a0001c0001t0001g0006
a0001c0001t0001g0012
others(69): Show 
a0001c0001t0001g0004
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0043
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0119
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0134
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0214
a0001c0001t0008g0215
a0001c0002t0002g0178
a0002c0003t0001g0079
a0002c0003t0001g0080
a0002c0003t0001g0090
a0004c0010t0001g0059
a0008c0006t0001g0041
93 HG00408.hp1
HG00438.hp1
HG00438.hp2
others(90): Show 
HG00408.hp1
HG00438.hp1
HG00438.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01168.hp1
HG01175.hp2
HG01934.hp2
HG01952.hp1
HG01981.hp1
HG02040.hp1
HG02040.hp2
HG02071.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp2
HG02293.hp2
HG02559.hp2
HG03239.hp1
HG03491.hp1
HG03654.hp2
HG03688.hp2
HG03710.hp1
HG03831.hp2
HG03834.hp2
HG03942.hp2
HG04199.hp1
NA18612.hp2
NA18747.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18964.hp2
NA18970.hp1
NA18973.hp2
NA18977.hp2
NA18979.hp2
NA18980.hp2
NA18981.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18990.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp1
NA19056.hp1
NA19058.hp2
NA19063.hp1
NA19063.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19077.hp2
NA19082.hp2
NA19088.hp1
NA19090.hp2
NA20752.hp1
NA20905.hp1
NA21309.hp2
intron_variant MODIFIER c.1437-49G>A
c.1437-49G>A
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 9/10 chr1 155291986
chr1:155292211 C
C
A
A
1 a0001c0001t0004g0122
a0001c0001t0004g0122
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.1437-274G>T
c.1437-274G>T
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 9/10 chr1 155292211
chr1:155292241 G
G
GAAAAAAA
others(1): Show 
GAAAAAAAA
6 a0001c0001t0001g0101
a0001c0001t0001g0116
a0001c0001t0001g0123
others(3): Show 
a0001c0001t0001g0101
a0001c0001t0001g0116
a0001c0001t0001g0123
a0001c0002t0002g0207
a0001c0002t0002g0209
a0002c0003t0001g0079
6 HG00140.hp1
HG02895.hp1
HG02895.hp2
others(3): Show 
HG00140.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
NA18962.hp2
NA18984.hp1
intron_variant MODIFIER c.1437-312_1437-305d
others(10): Show 
c.1437-312_1437-305dupTTTTTTTT
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 9/10 chr1 155292241
chr1:155292241 G
G
GAAAAAAA
others(2): Show 
GAAAAAAAAA
124 a0001c0001t0001g0004
a0001c0001t0001g0006
a0001c0001t0001g0008
others(121): Show 
a0001c0001t0001g0004
a0001c0001t0001g0006
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0022
a0001c0001t0001g0024
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0111
a0001c0001t0001g0112
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0003g0023
a0001c0001t0004g0122
a0001c0001t0008g0215
a0001c0002t0002g0204
a0001c0002t0002g0205
a0001c0002t0002g0206
a0001c0002t0002g0208
a0001c0002t0002g0210
a0001c0005t0001g0211
a0001c0005t0001g0212
a0002c0003t0001g0080
a0002c0003t0001g0090
a0004c0010t0001g0059
a0007c0008t0001g0087
a0008c0006t0001g0041
157 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(154): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00408.hp1
HG00438.hp1
HG00438.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01099.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01257.hp2
HG01261.hp1
HG01433.hp2
HG01496.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp2
HG02165.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03688.hp2
HG03710.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp2
HG04199.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18960.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18970.hp1
NA18973.hp2
NA18977.hp2
NA18979.hp2
NA18980.hp2
NA18981.hp2
NA18983.hp2
NA18985.hp2
NA18990.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19063.hp1
NA19063.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19077.hp2
NA19082.hp2
NA19090.hp2
NA19240.hp1
NA20752.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.1437-313_1437-305d
others(11): Show 
c.1437-313_1437-305dupTTTTTTTTT
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 9/10 chr1 155292241
chr1:155292241 G
G
GAAAAAAA
others(3): Show 
GAAAAAAAAAA
3 a0001c0001t0001g0025
a0001c0001t0001g0056
a0001c0001t0001g0075
a0001c0001t0001g0025
a0001c0001t0001g0056
a0001c0001t0001g0075
4 HG02486.hp2
HG02896.hp2
HG02897.hp2
others(1): Show 
HG02486.hp2
HG02896.hp2
HG02897.hp2
HG03540.hp2
intron_variant MODIFIER c.1437-314_1437-305d
others(12): Show 
c.1437-314_1437-305dupTTTTTTTTTT
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 9/10 chr1 155292241
chr1:155292543 A
A
G
G
7 a0001c0002t0002g0204
a0001c0002t0002g0205
a0001c0002t0002g0206
others(4): Show 
a0001c0002t0002g0204
a0001c0002t0002g0205
a0001c0002t0002g0206
a0001c0002t0002g0207
a0001c0002t0002g0208
a0001c0002t0002g0209
a0001c0002t0002g0210
7 HG02055.hp2
HG02723.hp1
HG02895.hp1
others(4): Show 
HG02055.hp2
HG02723.hp1
HG02895.hp1
HG02897.hp1
HG02976.hp1
HG03130.hp2
HG03195.hp2
intron_variant MODIFIER c.1437-606T>C
c.1437-606T>C
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 9/10 chr1 155292543
chr1:155292581 G
G
A
A
1 a0001c0001t0001g0052
a0001c0001t0001g0052
1 HG03486.hp2
HG03486.hp2
intron_variant MODIFIER c.1436+596C>T
c.1436+596C>T
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 9/10 chr1 155292581
chr1:155292798 C
C
A
A
1 a0001c0001t0001g0095
a0001c0001t0001g0095
1 HG00438.hp2
HG00438.hp2
intron_variant MODIFIER c.1436+379G>T
c.1436+379G>T
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 9/10 chr1 155292798
chr1:155292822 C
C
G
G
133 a0001c0001t0001g0004
a0001c0001t0001g0006
a0001c0001t0001g0008
others(130): Show 
a0001c0001t0001g0004
a0001c0001t0001g0006
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0022
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0111
a0001c0001t0001g0112
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0003g0023
a0001c0001t0004g0122
a0001c0001t0008g0215
a0001c0002t0002g0204
a0001c0002t0002g0205
a0001c0002t0002g0206
a0001c0002t0002g0207
a0001c0002t0002g0208
a0001c0002t0002g0209
a0001c0002t0002g0210
a0001c0005t0001g0211
a0001c0005t0001g0212
a0002c0003t0001g0079
a0002c0003t0001g0080
a0002c0003t0001g0090
a0004c0010t0001g0059
a0007c0008t0001g0087
a0008c0006t0001g0041
167 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(164): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00408.hp1
HG00438.hp1
HG00438.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01099.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01257.hp2
HG01261.hp1
HG01433.hp2
HG01496.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp2
HG02165.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03688.hp2
HG03710.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp2
HG04199.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18970.hp1
NA18973.hp2
NA18977.hp2
NA18979.hp2
NA18980.hp2
NA18981.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18990.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19063.hp1
NA19063.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19077.hp2
NA19082.hp2
NA19090.hp2
NA19240.hp1
NA20752.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.1436+355G>C
c.1436+355G>C
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 9/10 chr1 155292822
chr1:155292874 T
T
C
C
1 a0001c0001t0001g0128
a0001c0001t0001g0128
1 HG03225.hp2
HG03225.hp2
intron_variant MODIFIER c.1436+303A>G
c.1436+303A>G
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 9/10 chr1 155292874
chr1:155293375 G
G
T
T
3 a0001c0002t0002g0147
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0147
a0001c0002t0002g0148
a0001c0002t0002g0149
3 HG01884.hp1
HG03516.hp1
NA19240.hp2
HG01884.hp1
HG03516.hp1
NA19240.hp2
intron_variant MODIFIER c.1270-32C>A
c.1270-32C>A
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 8/10 chr1 155293375
chr1:155293395 A
A
G
G
3 a0001c0001t0001g0025
a0001c0001t0001g0056
a0001c0001t0001g0075
a0001c0001t0001g0025
a0001c0001t0001g0056
a0001c0001t0001g0075
4 HG02486.hp2
HG02896.hp2
HG02897.hp2
others(1): Show 
HG02486.hp2
HG02896.hp2
HG02897.hp2
HG03540.hp2
intron_variant MODIFIER c.1269+43T>C
c.1269+43T>C
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 8/10 chr1 155293395
chr1:155293603 G
G
A
A
2 a0001c0001t0001g0064
a0001c0002t0002g0160
a0001c0001t0001g0064
a0001c0002t0002g0160
2 HG00621.hp1
NA18977.hp1
HG00621.hp1
NA18977.hp1
intron_variant MODIFIER c.1117-13C>T
c.1117-13C>T
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 7/10 chr1 155293603
chr1:155293639 G
G
A
A
7 a0001c0002t0002g0204
a0001c0002t0002g0205
a0001c0002t0002g0206
others(4): Show 
a0001c0002t0002g0204
a0001c0002t0002g0205
a0001c0002t0002g0206
a0001c0002t0002g0207
a0001c0002t0002g0208
a0001c0002t0002g0209
a0001c0002t0002g0210
7 HG02055.hp2
HG02723.hp1
HG02895.hp1
others(4): Show 
HG02055.hp2
HG02723.hp1
HG02895.hp1
HG02897.hp1
HG02976.hp1
HG03130.hp2
HG03195.hp2
intron_variant MODIFIER c.1117-49C>T
c.1117-49C>T
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 7/10 chr1 155293639
chr1:155293680 G
G
C
C
1 a0001c0001t0001g0060
a0001c0001t0001g0060
1 HG00408.hp1
HG00408.hp1
intron_variant MODIFIER c.1117-90C>G
c.1117-90C>G
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 7/10 chr1 155293680
chr1:155294047 T
T
C
C
2 a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0143
a0001c0001t0001g0144
2 HG02258.hp2
HG02818.hp2
HG02258.hp2
HG02818.hp2
intron_variant MODIFIER c.1116+188A>G
c.1116+188A>G
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 7/10 chr1 155294047
chr1:155294081 G
G
A
A
3 a0001c0002t0002g0147
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0147
a0001c0002t0002g0148
a0001c0002t0002g0149
3 HG01884.hp1
HG03516.hp1
NA19240.hp2
HG01884.hp1
HG03516.hp1
NA19240.hp2
intron_variant MODIFIER c.1116+154C>T
c.1116+154C>T
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 7/10 chr1 155294081
chr1:155294895 G
G
A
A
1 a0001c0001t0001g0078
a0001c0001t0001g0078
1 HG04199.hp1
HG04199.hp1
intron_variant MODIFIER c.695-143C>T
c.695-143C>T
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 5/10 chr1 155294895
chr1:155295386 A
A
G
G
137 a0001c0001t0001g0004
a0001c0001t0001g0006
a0001c0001t0001g0008
others(134): Show 
a0001c0001t0001g0004
a0001c0001t0001g0006
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0022
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0111
a0001c0001t0001g0112
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0003g0023
a0001c0001t0004g0122
a0001c0001t0008g0215
a0001c0002t0002g0044
a0001c0002t0002g0045
a0001c0002t0002g0046
a0001c0002t0002g0202
a0001c0002t0002g0204
a0001c0002t0002g0205
a0001c0002t0002g0206
a0001c0002t0002g0207
a0001c0002t0002g0208
a0001c0002t0002g0209
a0001c0002t0002g0210
a0001c0005t0001g0211
a0001c0005t0001g0212
a0002c0003t0001g0079
a0002c0003t0001g0080
a0002c0003t0001g0090
a0004c0010t0001g0059
a0007c0008t0001g0087
a0008c0006t0001g0041
171 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(168): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00408.hp1
HG00438.hp1
HG00438.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01257.hp2
HG01261.hp1
HG01433.hp2
HG01496.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp2
HG02165.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03688.hp2
HG03710.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp2
HG04199.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18970.hp1
NA18973.hp2
NA18977.hp2
NA18979.hp2
NA18980.hp2
NA18981.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18990.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19063.hp1
NA19063.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19077.hp2
NA19082.hp2
NA19090.hp2
NA19240.hp1
NA20752.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.507+51T>C
c.507+51T>C
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 4/10 chr1 155295386
chr1:155295401 G
G
A
A
2 a0001c0001t0001g0135
a0001c0001t0001g0137
a0001c0001t0001g0135
a0001c0001t0001g0137
2 HG02970.hp1
HG03195.hp1
HG02970.hp1
HG03195.hp1
intron_variant MODIFIER c.507+36C>T
c.507+36C>T
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 4/10 chr1 155295401
chr1:155295590 G
G
A
A
1 a0001c0001t0001g0096
a0001c0001t0001g0096
1 NA18963.hp1
NA18963.hp1
intron_variant MODIFIER c.376-22C>T
c.376-22C>T
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 3/10 chr1 155295590
chr1:155295655 C
C
A
A
1 a0001c0001t0001g0112
a0001c0001t0001g0112
1 HG00099.hp1
HG00099.hp1
intron_variant MODIFIER c.375+10G>T
c.375+10G>T
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 3/10 chr1 155295655
chr1:155295785 C
C
T
T
1 a0001c0002t0007g0187
a0001c0002t0007g0187
1 HG02735.hp2
HG02735.hp2
intron_variant MODIFIER c.284-29G>A
c.284-29G>A
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155295785
chr1:155295870 T
T
C
C
11 a0001c0002t0002g0044
a0001c0002t0002g0045
a0001c0002t0002g0046
others(8): Show 
a0001c0002t0002g0044
a0001c0002t0002g0045
a0001c0002t0002g0046
a0001c0002t0002g0202
a0001c0002t0002g0204
a0001c0002t0002g0205
a0001c0002t0002g0206
a0001c0002t0002g0207
a0001c0002t0002g0208
a0001c0002t0002g0209
a0001c0002t0002g0210
11 HG01109.hp2
HG02055.hp2
HG02630.hp2
others(8): Show 
HG01109.hp2
HG02055.hp2
HG02630.hp2
HG02723.hp1
HG02895.hp1
HG02897.hp1
HG02976.hp1
HG03130.hp2
HG03195.hp2
HG03471.hp1
NA19030.hp1
intron_variant MODIFIER c.284-114A>G
c.284-114A>G
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155295870
chr1:155296434 C
C
T
T
1 a0001c0001t0001g0062
a0001c0001t0001g0062
1 HG00597.hp1
HG00597.hp1
intron_variant MODIFIER c.284-678G>A
c.284-678G>A
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155296434
chr1:155296499 C
C
T
T
1 a0001c0002t0002g0172
a0001c0002t0002g0172
1 HG01978.hp1
HG01978.hp1
intron_variant MODIFIER c.284-743G>A
c.284-743G>A
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155296499
chr1:155296544 C
C
T
T
126 a0001c0001t0001g0004
a0001c0001t0001g0006
a0001c0001t0001g0008
others(123): Show 
a0001c0001t0001g0004
a0001c0001t0001g0006
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0022
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0111
a0001c0001t0001g0112
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0003g0023
a0001c0001t0004g0122
a0001c0001t0008g0215
a0001c0005t0001g0211
a0001c0005t0001g0212
a0002c0003t0001g0079
a0002c0003t0001g0080
a0002c0003t0001g0090
a0004c0010t0001g0059
a0007c0008t0001g0087
a0008c0006t0001g0041
160 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(157): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00408.hp1
HG00438.hp1
HG00438.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01099.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01257.hp2
HG01261.hp1
HG01433.hp2
HG01496.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp2
HG02165.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03688.hp2
HG03710.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp2
HG04199.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18970.hp1
NA18973.hp2
NA18977.hp2
NA18979.hp2
NA18980.hp2
NA18981.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18990.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19063.hp1
NA19063.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19077.hp2
NA19082.hp2
NA19090.hp2
NA19240.hp1
NA20752.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.284-788G>A
c.284-788G>A
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155296544
chr1:155296631 C
C
T
T
2 a0001c0002t0002g0177
a0001c0002t0002g0193
a0001c0002t0002g0177
a0001c0002t0002g0193
2 NA18943.hp1
NA18962.hp1
NA18943.hp1
NA18962.hp1
intron_variant MODIFIER c.284-875G>A
c.284-875G>A
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155296631
chr1:155296635 G
G
A
A
1 a0001c0001t0001g0077
a0001c0001t0001g0077
1 NA18942.hp1
NA18942.hp1
intron_variant MODIFIER c.284-879C>T
c.284-879C>T
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155296635
chr1:155296722 C
C
A
A
6 a0001c0001t0001g0049
a0001c0001t0001g0136
a0001c0001t0001g0143
others(3): Show 
a0001c0001t0001g0049
a0001c0001t0001g0136
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0005t0001g0211
a0001c0005t0001g0212
6 HG01891.hp1
HG01975.hp1
HG02258.hp2
others(3): Show 
HG01891.hp1
HG01975.hp1
HG02258.hp2
HG02451.hp1
HG02818.hp2
HG03834.hp1
intron_variant MODIFIER c.284-966G>T
c.284-966G>T
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155296722
chr1:155296743 C
C
A
A
1 a0001c0002t0002g0193
a0001c0002t0002g0193
1 NA18962.hp1
NA18962.hp1
intron_variant MODIFIER c.284-987G>T
c.284-987G>T
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155296743
chr1:155296783 C
C
A
A
2 a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0148
a0001c0002t0002g0149
2 HG01884.hp1
HG03516.hp1
HG01884.hp1
HG03516.hp1
intron_variant MODIFIER c.284-1027G>T
c.284-1027G>T
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155296783
chr1:155296818 C
C
G
G
1 a0001c0001t0001g0082
a0001c0001t0001g0082
1 HG01934.hp1
HG01934.hp1
intron_variant MODIFIER c.284-1062G>C
c.284-1062G>C
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155296818
chr1:155296838 A
A
G
G
1 a0001c0001t0001g0091
a0001c0001t0001g0091
1 HG01884.hp2
HG01884.hp2
intron_variant MODIFIER c.284-1082T>C
c.284-1082T>C
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155296838
chr1:155296994 A
A
G
G
1 a0001c0002t0002g0150
a0001c0002t0002g0150
1 NA19058.hp1
NA19058.hp1
intron_variant MODIFIER c.284-1238T>C
c.284-1238T>C
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155296994
chr1:155297083 C
C
T
T
2 a0001c0001t0001g0055
a0001c0001t0001g0076
a0001c0001t0001g0055
a0001c0001t0001g0076
2 HG03654.hp2
HG03834.hp2
HG03654.hp2
HG03834.hp2
intron_variant MODIFIER c.284-1327G>A
c.284-1327G>A
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155297083
chr1:155297102 C
C
A
A
1 a0001c0002t0002g0156
a0001c0002t0002g0156
1 NA19077.hp1
NA19077.hp1
intron_variant MODIFIER c.284-1346G>T
c.284-1346G>T
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155297102
chr1:155297144 G
G
A
A
11 a0001c0002t0002g0044
a0001c0002t0002g0045
a0001c0002t0002g0046
others(8): Show 
a0001c0002t0002g0044
a0001c0002t0002g0045
a0001c0002t0002g0046
a0001c0002t0002g0202
a0001c0002t0002g0204
a0001c0002t0002g0205
a0001c0002t0002g0206
a0001c0002t0002g0207
a0001c0002t0002g0208
a0001c0002t0002g0209
a0001c0002t0002g0210
11 HG01109.hp2
HG02055.hp2
HG02630.hp2
others(8): Show 
HG01109.hp2
HG02055.hp2
HG02630.hp2
HG02723.hp1
HG02895.hp1
HG02897.hp1
HG02976.hp1
HG03130.hp2
HG03195.hp2
HG03471.hp1
NA19030.hp1
intron_variant MODIFIER c.284-1388C>T
c.284-1388C>T
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155297144
chr1:155297378 T
T
TCCTTATG
others(20): Show 
TCCTTATGGCAAAAACCTCAGAGTCACC
1 a0001c0001t0008g0215
a0001c0001t0008g0215
1 NA19011.hp1
NA19011.hp1
intron_variant MODIFIER c.284-1649_284-1623d
others(29): Show 
c.284-1649_284-1623dupGGTGACTCTGAGGTTTTTGCCATAAGG
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155297378
chr1:155297393 C
C
G
G
1 a0002c0003t0001g0090
a0002c0003t0001g0090
1 NA18944.hp2
NA18944.hp2
intron_variant MODIFIER c.284-1637G>C
c.284-1637G>C
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155297393
chr1:155297598 G
G
A
A
11 a0001c0002t0002g0044
a0001c0002t0002g0045
a0001c0002t0002g0046
others(8): Show 
a0001c0002t0002g0044
a0001c0002t0002g0045
a0001c0002t0002g0046
a0001c0002t0002g0202
a0001c0002t0002g0204
a0001c0002t0002g0205
a0001c0002t0002g0206
a0001c0002t0002g0207
a0001c0002t0002g0208
a0001c0002t0002g0209
a0001c0002t0002g0210
11 HG01109.hp2
HG02055.hp2
HG02630.hp2
others(8): Show 
HG01109.hp2
HG02055.hp2
HG02630.hp2
HG02723.hp1
HG02895.hp1
HG02897.hp1
HG02976.hp1
HG03130.hp2
HG03195.hp2
HG03471.hp1
NA19030.hp1
intron_variant MODIFIER c.284-1842C>T
c.284-1842C>T
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155297598
chr1:155297612 G
G
A
A
1 a0001c0002t0002g0193
a0001c0002t0002g0193
1 NA18962.hp1
NA18962.hp1
intron_variant MODIFIER c.284-1856C>T
c.284-1856C>T
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155297612
chr1:155297620 T
T
G
G
1 a0001c0001t0001g0066
a0001c0001t0001g0066
1 HG03927.hp2
HG03927.hp2
intron_variant MODIFIER c.284-1864A>C
c.284-1864A>C
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155297620
chr1:155297752 G
G
C
C
1 a0001c0001t0008g0215
a0001c0001t0008g0215
1 NA19011.hp1
NA19011.hp1
intron_variant MODIFIER c.284-1996C>G
c.284-1996C>G
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155297752
chr1:155297829 G
G
A
A
3 a0001c0002t0002g0044
a0001c0002t0002g0045
a0001c0002t0002g0046
a0001c0002t0002g0044
a0001c0002t0002g0045
a0001c0002t0002g0046
3 HG01109.hp2
HG02630.hp2
NA19030.hp1
HG01109.hp2
HG02630.hp2
NA19030.hp1
intron_variant MODIFIER c.284-2073C>T
c.284-2073C>T
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155297829
chr1:155297988 G
G
A
A
2 a0001c0002t0002g0161
a0001c0002t0006g0183
a0001c0002t0002g0161
a0001c0002t0006g0183
2 NA19054.hp2
NA19056.hp2
NA19054.hp2
NA19056.hp2
intron_variant MODIFIER c.283+2110C>T
c.283+2110C>T
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155297988
chr1:155297997 A
A
G
G
7 a0001c0002t0002g0204
a0001c0002t0002g0205
a0001c0002t0002g0206
others(4): Show 
a0001c0002t0002g0204
a0001c0002t0002g0205
a0001c0002t0002g0206
a0001c0002t0002g0207
a0001c0002t0002g0208
a0001c0002t0002g0209
a0001c0002t0002g0210
7 HG02055.hp2
HG02723.hp1
HG02895.hp1
others(4): Show 
HG02055.hp2
HG02723.hp1
HG02895.hp1
HG02897.hp1
HG02976.hp1
HG03130.hp2
HG03195.hp2
intron_variant MODIFIER c.283+2101T>C
c.283+2101T>C
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155297997
chr1:155298128 C
C
T
T
3 a0001c0002t0002g0044
a0001c0002t0002g0045
a0001c0002t0002g0046
a0001c0002t0002g0044
a0001c0002t0002g0045
a0001c0002t0002g0046
3 HG01109.hp2
HG02630.hp2
NA19030.hp1
HG01109.hp2
HG02630.hp2
NA19030.hp1
intron_variant MODIFIER c.283+1970G>A
c.283+1970G>A
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155298128
chr1:155298136 A
A
T
T
1 a0001c0001t0008g0215
a0001c0001t0008g0215
1 NA19011.hp1
NA19011.hp1
intron_variant MODIFIER c.283+1962T>A
c.283+1962T>A
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155298136
chr1:155298272 G
G
A
A
1 a0001c0002t0002g0194
a0001c0002t0002g0194
1 HG01358.hp2
HG01358.hp2
intron_variant MODIFIER c.283+1826C>T
c.283+1826C>T
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155298272
chr1:155298326 G
G
C
C
1 a0001c0001t0008g0215
a0001c0001t0008g0215
1 NA19011.hp1
NA19011.hp1
intron_variant MODIFIER c.283+1772C>G
c.283+1772C>G
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155298326
chr1:155298329 T
T
C
C
140 a0001c0001t0001g0004
a0001c0001t0001g0006
a0001c0001t0001g0008
others(137): Show 
a0001c0001t0001g0004
a0001c0001t0001g0006
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0022
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0111
a0001c0001t0001g0112
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0003g0023
a0001c0001t0004g0122
a0001c0001t0008g0215
a0001c0002t0002g0044
a0001c0002t0002g0045
a0001c0002t0002g0046
a0001c0002t0002g0147
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0202
a0001c0002t0002g0204
a0001c0002t0002g0205
a0001c0002t0002g0206
a0001c0002t0002g0207
a0001c0002t0002g0208
a0001c0002t0002g0209
a0001c0002t0002g0210
a0001c0005t0001g0211
a0001c0005t0001g0212
a0002c0003t0001g0079
a0002c0003t0001g0080
a0002c0003t0001g0090
a0004c0010t0001g0059
a0007c0008t0001g0087
a0008c0006t0001g0041
174 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(171): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00408.hp1
HG00438.hp1
HG00438.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01257.hp2
HG01261.hp1
HG01433.hp2
HG01496.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp2
HG02165.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03688.hp2
HG03710.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp2
HG04199.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18970.hp1
NA18973.hp2
NA18977.hp2
NA18979.hp2
NA18980.hp2
NA18981.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18990.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19063.hp1
NA19063.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19077.hp2
NA19082.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20752.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.283+1769A>G
c.283+1769A>G
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155298329
chr1:155298340 T
T
G
G
2 a0001c0001t0001g0105
a0001c0001t0001g0123
a0001c0001t0001g0105
a0001c0001t0001g0123
2 HG00140.hp1
HG02683.hp2
HG00140.hp1
HG02683.hp2
intron_variant MODIFIER c.283+1758A>C
c.283+1758A>C
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155298340
chr1:155298341 T
T
C
C
1 a0001c0002t0002g0184
a0001c0002t0002g0184
1 NA18954.hp2
NA18954.hp2
intron_variant MODIFIER c.283+1757A>G
c.283+1757A>G
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155298341
chr1:155298350 C
C
T
T
1 a0001c0002t0002g0045
a0001c0002t0002g0045
1 HG02630.hp2
HG02630.hp2
intron_variant MODIFIER c.283+1748G>A
c.283+1748G>A
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155298350
chr1:155298378 G
G
C
C
1 a0001c0002t0002g0166
a0001c0002t0002g0166
1 HG01123.hp1
HG01123.hp1
intron_variant MODIFIER c.283+1720C>G
c.283+1720C>G
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155298378
chr1:155298616 C
C
A
A
2 a0001c0002t0002g0174
a0005c0007t0002g0185
a0001c0002t0002g0174
a0005c0007t0002g0185
2 HG02129.hp2
NA19003.hp2
HG02129.hp2
NA19003.hp2
intron_variant MODIFIER c.283+1482G>T
c.283+1482G>T
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155298616
chr1:155298617 G
G
A
A
1 a0001c0002t0002g0186
a0001c0002t0002g0186
1 HG01070.hp1
HG01070.hp1
intron_variant MODIFIER c.283+1481C>T
c.283+1481C>T
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155298617
chr1:155298620 C
C
T
T
2 a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0148
a0001c0002t0002g0149
2 HG01884.hp1
HG03516.hp1
HG01884.hp1
HG03516.hp1
intron_variant MODIFIER c.283+1478G>A
c.283+1478G>A
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155298620
chr1:155298625 C
C
CT
CT
15 a0001c0001t0001g0058
a0001c0001t0001g0067
a0001c0001t0001g0081
others(12): Show 
a0001c0001t0001g0058
a0001c0001t0001g0067
a0001c0001t0001g0081
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0092
a0001c0001t0001g0100
a0001c0001t0008g0215
a0001c0002t0002g0204
a0001c0002t0002g0205
a0001c0002t0002g0206
a0001c0002t0002g0207
a0001c0002t0002g0208
a0001c0002t0002g0209
a0001c0002t0002g0210
15 HG02055.hp2
HG02723.hp1
HG02895.hp1
others(12): Show 
HG02055.hp2
HG02723.hp1
HG02895.hp1
HG02897.hp1
HG02976.hp1
HG03130.hp2
HG03195.hp2
HG03831.hp2
NA18956.hp2
NA18964.hp2
NA19011.hp1
NA19030.hp2
NA19063.hp1
NA19067.hp2
NA21309.hp2
intron_variant MODIFIER c.283+1472dupA
c.283+1472dupA
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155298625
chr1:155298633 TC
TC
T
T
5 a0001c0001t0001g0097
a0001c0001t0001g0106
a0001c0001t0001g0113
others(2): Show 
a0001c0001t0001g0097
a0001c0001t0001g0106
a0001c0001t0001g0113
a0001c0001t0001g0124
a0007c0008t0001g0087
5 HG01070.hp2
HG03654.hp1
NA19054.hp1
others(2): Show 
HG01070.hp2
HG03654.hp1
NA19054.hp1
NA19058.hp2
NA19068.hp1
intron_variant MODIFIER c.283+1464delG
c.283+1464delG
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155298633
chr1:155298634 C
C
T
T
131 a0001c0001t0001g0004
a0001c0001t0001g0006
a0001c0001t0001g0008
others(128): Show 
a0001c0001t0001g0004
a0001c0001t0001g0006
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0022
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0111
a0001c0001t0001g0112
a0001c0001t0001g0114
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0003g0023
a0001c0001t0004g0122
a0001c0001t0008g0215
a0001c0002t0002g0044
a0001c0002t0002g0045
a0001c0002t0002g0046
a0001c0002t0002g0204
a0001c0002t0002g0205
a0001c0002t0002g0206
a0001c0002t0002g0207
a0001c0002t0002g0208
a0001c0002t0002g0209
a0001c0002t0002g0210
a0001c0005t0001g0211
a0001c0005t0001g0212
a0002c0003t0001g0079
a0002c0003t0001g0080
a0002c0003t0001g0090
a0004c0010t0001g0059
a0008c0006t0001g0041
165 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(162): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00408.hp1
HG00438.hp1
HG00438.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01071.hp2
HG01074.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01257.hp2
HG01261.hp1
HG01433.hp2
HG01496.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp2
HG02165.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03688.hp2
HG03710.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp2
HG04199.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18970.hp1
NA18973.hp2
NA18977.hp2
NA18979.hp2
NA18980.hp2
NA18981.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18990.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19057.hp1
NA19063.hp1
NA19063.hp2
NA19067.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19077.hp2
NA19082.hp2
NA19090.hp2
NA19240.hp1
NA20752.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.283+1464G>A
c.283+1464G>A
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155298634
chr1:155298640 T
T
A
A
3 a0001c0002t0002g0044
a0001c0002t0002g0045
a0001c0002t0002g0046
a0001c0002t0002g0044
a0001c0002t0002g0045
a0001c0002t0002g0046
3 HG01109.hp2
HG02630.hp2
NA19030.hp1
HG01109.hp2
HG02630.hp2
NA19030.hp1
intron_variant MODIFIER c.283+1458A>T
c.283+1458A>T
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155298640
chr1:155298641 T
T
A
A
16 a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0026
others(13): Show 
a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0043
a0001c0001t0001g0047
a0001c0001t0001g0056
a0001c0001t0001g0072
a0001c0001t0001g0075
a0001c0001t0001g0091
a0001c0001t0001g0099
a0001c0001t0001g0108
a0001c0001t0001g0116
a0001c0001t0003g0023
a0001c0002t0002g0044
a0001c0002t0002g0045
a0001c0002t0002g0046
22 HG00099.hp2
HG00280.hp2
HG00639.hp2
others(19): Show 
HG00099.hp2
HG00280.hp2
HG00639.hp2
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01257.hp2
HG01433.hp2
HG01884.hp2
HG02040.hp2
HG02486.hp2
HG02630.hp2
HG02647.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG03239.hp2
HG03471.hp2
HG03540.hp2
NA19030.hp1
intron_variant MODIFIER c.283+1457A>T
c.283+1457A>T
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155298641
chr1:155298641 T
T
TA
TA
6 a0001c0001t0001g0098
a0001c0001t0001g0107
a0001c0001t0001g0109
others(3): Show 
a0001c0001t0001g0098
a0001c0001t0001g0107
a0001c0001t0001g0109
a0001c0001t0001g0114
a0001c0001t0001g0115
a0001c0001t0001g0213
6 HG02145.hp2
HG02976.hp2
HG03516.hp2
others(3): Show 
HG02145.hp2
HG02976.hp2
HG03516.hp2
HG03579.hp1
NA18522.hp1
NA18906.hp1
intron_variant MODIFIER c.283+1456dupT
c.283+1456dupT
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155298641
chr1:155298694 T
T
A
A
1 a0001c0001t0008g0215
a0001c0001t0008g0215
1 NA19011.hp1
NA19011.hp1
intron_variant MODIFIER c.283+1404A>T
c.283+1404A>T
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155298694
chr1:155298735 G
G
A
A
1 a0001c0002t0002g0151
a0001c0002t0002g0151
1 HG02257.hp1
HG02257.hp1
intron_variant MODIFIER c.283+1363C>T
c.283+1363C>T
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155298735
chr1:155298766 C
C
T
T
7 a0001c0002t0002g0204
a0001c0002t0002g0205
a0001c0002t0002g0206
others(4): Show 
a0001c0002t0002g0204
a0001c0002t0002g0205
a0001c0002t0002g0206
a0001c0002t0002g0207
a0001c0002t0002g0208
a0001c0002t0002g0209
a0001c0002t0002g0210
7 HG02055.hp2
HG02723.hp1
HG02895.hp1
others(4): Show 
HG02055.hp2
HG02723.hp1
HG02895.hp1
HG02897.hp1
HG02976.hp1
HG03130.hp2
HG03195.hp2
intron_variant MODIFIER c.283+1332G>A
c.283+1332G>A
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155298766
chr1:155298777 G
G
A
A
1 a0001c0001t0008g0215
a0001c0001t0008g0215
1 NA19011.hp1
NA19011.hp1
intron_variant MODIFIER c.283+1321C>T
c.283+1321C>T
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155298777
chr1:155298778 A
A
T
T
1 a0001c0001t0008g0215
a0001c0001t0008g0215
1 NA19011.hp1
NA19011.hp1
intron_variant MODIFIER c.283+1320T>A
c.283+1320T>A
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155298778
chr1:155298780 T
T
A
A
1 a0001c0001t0008g0215
a0001c0001t0008g0215
1 NA19011.hp1
NA19011.hp1
intron_variant MODIFIER c.283+1318A>T
c.283+1318A>T
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155298780
chr1:155298953 C
C
CCTTT
CCTTT
8 a0001c0002t0002g0034
a0001c0002t0002g0039
a0001c0002t0002g0150
others(5): Show 
a0001c0002t0002g0034
a0001c0002t0002g0039
a0001c0002t0002g0150
a0001c0002t0002g0157
a0001c0002t0002g0158
a0001c0002t0002g0167
a0001c0002t0002g0175
a0003c0004t0002g0176
10 HG00280.hp1
HG01192.hp1
HG01981.hp2
others(7): Show 
HG00280.hp1
HG01192.hp1
HG01981.hp2
HG01993.hp2
HG02135.hp1
HG03130.hp1
HG03209.hp2
HG03942.hp1
NA19058.hp1
NA20300.hp2
intron_variant MODIFIER c.283+1141_283+1144d
others(6): Show 
c.283+1141_283+1144dupAAAG
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155298953
chr1:155298953 C
C
CCTTTCTT
others(1): Show 
CCTTTCTTT
7 a0001c0002t0002g0033
a0001c0002t0002g0154
a0001c0002t0002g0155
others(4): Show 
a0001c0002t0002g0033
a0001c0002t0002g0154
a0001c0002t0002g0155
a0001c0002t0002g0156
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
8 HG01257.hp1
HG01516.hp1
HG01978.hp1
others(5): Show 
HG01257.hp1
HG01516.hp1
HG01978.hp1
HG02129.hp2
HG02258.hp1
HG02717.hp1
HG03831.hp1
NA19077.hp1
intron_variant MODIFIER c.283+1137_283+1144d
others(10): Show 
c.283+1137_283+1144dupAAAGAAAG
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155298953
chr1:155298953 C
C
CCTTTCTT
others(5): Show 
CCTTTCTTTCTTT
1 a0001c0002t0002g0153
a0001c0002t0002g0153
1 NA18985.hp1
NA18985.hp1
intron_variant MODIFIER c.283+1133_283+1144d
others(14): Show 
c.283+1133_283+1144dupAAAGAAAGAAAG
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155298953
chr1:155298953 CCTTT
CCTTT
C
C
10 a0001c0002t0002g0002
a0001c0002t0002g0015
a0001c0002t0002g0016
others(7): Show 
a0001c0002t0002g0002
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0018
a0001c0002t0002g0036
a0001c0002t0002g0037
a0001c0002t0002g0040
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0007g0187
27 HG00639.hp1
HG01074.hp2
HG01109.hp1
others(24): Show 
HG00639.hp1
HG01074.hp2
HG01109.hp1
HG01496.hp2
HG02074.hp1
HG02523.hp2
HG02602.hp1
HG02615.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG03225.hp1
HG03579.hp2
HG04199.hp2
NA18747.hp1
NA18956.hp1
NA18959.hp2
NA18964.hp1
NA18970.hp2
NA18980.hp1
NA18990.hp2
NA18999.hp2
NA19068.hp2
NA19074.hp2
intron_variant MODIFIER c.283+1141_283+1144d
others(6): Show 
c.283+1141_283+1144delAAAG
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155298953
chr1:155298953 CCTTTCTT
others(1): Show 
CCTTTCTTT
C
C
14 a0001c0002t0002g0003
a0001c0002t0002g0017
a0001c0002t0002g0019
others(11): Show 
a0001c0002t0002g0003
a0001c0002t0002g0017
a0001c0002t0002g0019
a0001c0002t0002g0038
a0001c0002t0002g0148
a0001c0002t0002g0162
a0001c0002t0002g0163
a0001c0002t0002g0168
a0001c0002t0002g0190
a0001c0002t0002g0191
a0001c0002t0002g0193
a0001c0002t0002g0194
a0001c0002t0002g0203
a0001c0002t0005g0192
27 HG00621.hp2
HG01069.hp1
HG01071.hp1
others(24): Show 
HG00621.hp2
HG01069.hp1
HG01071.hp1
HG01106.hp2
HG01167.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01358.hp2
HG01884.hp1
HG01975.hp2
HG02572.hp1
HG02735.hp1
HG03453.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03927.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp2
NA18951.hp1
NA18957.hp1
NA18962.hp1
NA18973.hp1
NA18992.hp1
NA19057.hp2
intron_variant MODIFIER c.283+1137_283+1144d
others(10): Show 
c.283+1137_283+1144delAAAGAAAG
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155298953
chr1:155298953 CCTTTCTT
others(5): Show 
CCTTTCTTTCTTT
C
C
5 a0001c0002t0002g0020
a0001c0002t0002g0164
a0001c0002t0002g0165
others(2): Show 
a0001c0002t0002g0020
a0001c0002t0002g0164
a0001c0002t0002g0165
a0001c0002t0002g0166
a0001c0002t0002g0195
7 HG00140.hp2
HG01123.hp1
HG02451.hp2
others(4): Show 
HG00140.hp2
HG01123.hp1
HG02451.hp2
HG03688.hp1
NA18979.hp1
NA18983.hp1
NA18995.hp1
intron_variant MODIFIER c.283+1133_283+1144d
others(14): Show 
c.283+1133_283+1144delAAAGAAAGAAAG
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155298953
chr1:155298953 CCTTTCTT
others(8): Show 
CCTTTCTTTCTTTCTT
C
C
1 a0001c0001t0001g0109
a0001c0001t0001g0109
1 HG03516.hp2
HG03516.hp2
intron_variant MODIFIER c.283+1130_283+1144d
others(17): Show 
c.283+1130_283+1144delAAGAAAGAAAGAAAG
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155298953
chr1:155298953 CCTTTCTT
others(9): Show 
CCTTTCTTTCTTTCTTT
C
C
2 a0001c0002t0002g0196
a0001c0002t0002g0198
a0001c0002t0002g0196
a0001c0002t0002g0198
2 HG03710.hp2
homoSapiens_chm13v2.hp1
HG03710.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.283+1129_283+1144d
others(18): Show 
c.283+1129_283+1144delAAAGAAAGAAAGAAAG
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155298953
chr1:155298953 CCTTTCTT
others(13): Show 
CCTTTCTTTCTTTCTTTCTTT
C
C
3 a0001c0002t0002g0021
a0001c0002t0002g0197
a0001c0002t0002g0202
a0001c0002t0002g0021
a0001c0002t0002g0197
a0001c0002t0002g0202
5 HG00408.hp2
HG01175.hp1
HG01358.hp1
others(2): Show 
HG00408.hp2
HG01175.hp1
HG01358.hp1
HG03471.hp1
NA19002.hp2
intron_variant MODIFIER c.283+1125_283+1144d
others(22): Show 
c.283+1125_283+1144delAAAGAAAGAAAGAAAGAAAG
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155298953
chr1:155298953 CCTTTCTT
others(20): Show 
CCTTTCTTTCTTTCTTTCTTTCTTTCTT
C
C
1 a0001c0002t0002g0205
a0001c0002t0002g0205
1 HG03130.hp2
HG03130.hp2
intron_variant MODIFIER c.283+1118_283+1144d
others(29): Show 
c.283+1118_283+1144delAAGAAAGAAAGAAAGAAAGAAAGAAAG
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155298953
chr1:155298953 CCTTTCTT
others(32): Show 
CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT
C
C
1 a0001c0002t0002g0206
a0001c0002t0002g0206
1 HG02723.hp1
HG02723.hp1
intron_variant MODIFIER c.283+1106_283+1144d
others(41): Show 
c.283+1106_283+1144delAAGAAAGAAAGAAAGAAAGAAAGAAAGA
AAGAAAGAAAG
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155298953
chr1:155298953 CCTTTCTT
others(36): Show 
CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT
C
C
2 a0001c0002t0002g0207
a0001c0002t0002g0209
a0001c0002t0002g0207
a0001c0002t0002g0209
2 HG02895.hp1
HG02897.hp1
HG02895.hp1
HG02897.hp1
intron_variant MODIFIER c.283+1102_283+1144d
others(45): Show 
c.283+1102_283+1144delAAGAAAGAAAGAAAGAAAGAAAGAAAGA
AAGAAAGAAAGAAAG
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155298953
chr1:155298953 CCTTTCTT
others(40): Show 
CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT
C
C
1 a0001c0002t0002g0210
a0001c0002t0002g0210
1 HG02055.hp2
HG02055.hp2
intron_variant MODIFIER c.283+1098_283+1144d
others(49): Show 
c.283+1098_283+1144delAAGAAAGAAAGAAAGAAAGAAAGAAAGA
AAGAAAGAAAGAAAGAAAG
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155298953
chr1:155298973 T
T
C
C
1 a0001c0001t0008g0215
a0001c0001t0008g0215
1 NA19011.hp1
NA19011.hp1
intron_variant MODIFIER c.283+1125A>G
c.283+1125A>G
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155298973
chr1:155298974 C
C
T
T
1 a0001c0001t0008g0215
a0001c0001t0008g0215
1 NA19011.hp1
NA19011.hp1
intron_variant MODIFIER c.283+1124G>A
c.283+1124G>A
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155298974
chr1:155299000 TTCTTTCT
others(27): Show 
TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC
T
T
1 a0001c0001t0001g0129
a0001c0001t0001g0129
1 HG02559.hp2
HG02559.hp2
intron_variant MODIFIER c.283+1064_283+1097d
others(36): Show 
c.283+1064_283+1097delGAAAGAAAGAAAGAAAGAAAGAAAGAAA
GAAAGA
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299000
chr1:155299003 T
T
C
C
1 a0001c0002t0002g0198
a0001c0002t0002g0198
1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.283+1095A>G
c.283+1095A>G
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299003
chr1:155299004 TTCTTTCT
others(23): Show 
TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC
T
T
3 a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0128
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0128
3 HG01934.hp1
HG03225.hp2
HG03831.hp2
HG01934.hp1
HG03225.hp2
HG03831.hp2
intron_variant MODIFIER c.283+1064_283+1093d
others(32): Show 
c.283+1064_283+1093delGAAAGAAAGAAAGAAAGAAAGAAAGAAA
GA
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299004
chr1:155299006 CTTTCTTT
others(10): Show 
CTTTCTTTCTTTCTTTCT
C
C
1 a0001c0001t0001g0130
a0001c0001t0001g0130
1 NA18977.hp2
NA18977.hp2
intron_variant MODIFIER c.283+1075_283+1091d
others(19): Show 
c.283+1075_283+1091delAGAAAGAAAGAAAGAAA
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299006
chr1:155299008 TTCTTTCT
others(19): Show 
TTCTTTCTTTCTTTCTTTCTTTCTTTC
T
T
9 a0001c0001t0001g0032
a0001c0001t0001g0067
a0001c0001t0001g0068
others(6): Show 
a0001c0001t0001g0032
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0002c0003t0001g0079
a0002c0003t0001g0080
10 HG01516.hp2
HG01891.hp2
HG01978.hp2
others(7): Show 
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG02040.hp1
HG02135.hp2
HG02615.hp2
NA18962.hp2
NA19063.hp2
NA19067.hp2
NA19077.hp2
intron_variant MODIFIER c.283+1064_283+1089d
others(28): Show 
c.283+1064_283+1089delGAAAGAAAGAAAGAAAGAAAGAAAGA
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299008
chr1:155299010 CTTTCTTT
others(21): Show 
CTTTCTTTCTTTCTTTCTTTCTTTCTCTT
C
C
1 a0001c0002t0002g0170
a0001c0002t0002g0170
1 HG02602.hp2
HG02602.hp2
intron_variant MODIFIER c.283+1060_283+1087d
others(30): Show 
c.283+1060_283+1087delAAGAGAAAGAAAGAAAGAAAGAAAGAAA
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299010
chr1:155299012 TTCTTTCT
others(15): Show 
TTCTTTCTTTCTTTCTTTCTTTC
T
T
18 a0001c0001t0001g0026
a0001c0001t0001g0031
a0001c0001t0001g0057
others(15): Show 
a0001c0001t0001g0026
a0001c0001t0001g0031
a0001c0001t0001g0057
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0078
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0144
a0001c0001t0004g0122
a0001c0001t0008g0215
a0001c0002t0002g0046
a0001c0002t0002g0208
20 HG00140.hp1
HG01109.hp2
HG01168.hp2
others(17): Show 
HG00140.hp1
HG01109.hp2
HG01168.hp2
HG01175.hp2
HG02071.hp1
HG02165.hp2
HG02258.hp2
HG02976.hp1
HG03239.hp2
HG03486.hp1
HG03927.hp2
HG04199.hp1
NA18943.hp2
NA18944.hp1
NA18983.hp2
NA18995.hp2
NA19011.hp1
NA19043.hp1
NA19043.hp2
NA19068.hp1
intron_variant MODIFIER c.283+1064_283+1085d
others(24): Show 
c.283+1064_283+1085delGAAAGAAAGAAAGAAAGAAAGA
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299012
chr1:155299016 TTCTTTCT
others(11): Show 
TTCTTTCTTTCTTTCTTTC
T
T
28 a0001c0001t0001g0006
a0001c0001t0001g0008
a0001c0001t0001g0013
others(25): Show 
a0001c0001t0001g0006
a0001c0001t0001g0008
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0022
a0001c0001t0001g0030
a0001c0001t0001g0043
a0001c0001t0001g0047
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0110
a0001c0001t0001g0111
a0001c0001t0001g0112
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0143
a0001c0001t0001g0213
a0001c0002t0002g0045
a0008c0006t0001g0041
42 HG00099.hp1
HG00597.hp1
HG00597.hp2
others(39): Show 
HG00099.hp1
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG01099.hp2
HG01167.hp2
HG01168.hp1
HG01433.hp2
HG01952.hp1
HG02040.hp2
HG02145.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02572.hp2
HG02630.hp2
HG02647.hp1
HG02717.hp2
HG02818.hp2
HG02895.hp2
HG02922.hp2
HG02976.hp2
HG03471.hp2
HG03491.hp1
HG03579.hp1
HG03654.hp2
HG03834.hp2
NA18747.hp2
NA18942.hp1
NA18957.hp2
NA18970.hp1
NA18973.hp2
NA18980.hp2
NA18981.hp2
NA18985.hp2
NA19003.hp1
NA19054.hp1
NA19056.hp1
NA19057.hp1
NA19082.hp2
NA19240.hp1
NA20752.hp1
intron_variant MODIFIER c.283+1064_283+1081d
others(20): Show 
c.283+1064_283+1081delGAAAGAAAGAAAGAAAGA
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299016
chr1:155299018 CTTTCTTT
others(6): Show 
CTTTCTTTCTTTCT
C
C
1 a0001c0002t0002g0199
a0001c0002t0002g0199
1 NA18946.hp1
NA18946.hp1
intron_variant MODIFIER c.283+1067_283+1079d
others(15): Show 
c.283+1067_283+1079delAGAAAGAAAGAAA
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299018
chr1:155299020 TTCTTTCT
others(7): Show 
TTCTTTCTTTCTTTC
T
T
21 a0001c0001t0001g0011
a0001c0001t0001g0024
a0001c0001t0001g0025
others(18): Show 
a0001c0001t0001g0011
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0029
a0001c0001t0001g0048
a0001c0001t0001g0054
a0001c0001t0001g0061
a0001c0001t0001g0071
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0002t0002g0044
a0001c0005t0001g0212
26 HG00280.hp2
HG02280.hp1
HG02280.hp2
others(23): Show 
HG00280.hp2
HG02280.hp1
HG02280.hp2
HG02630.hp1
HG02683.hp2
HG02809.hp1
HG02886.hp1
HG02897.hp2
HG03239.hp1
HG03490.hp2
HG03492.hp1
HG03540.hp2
HG03834.hp1
HG04228.hp1
HG06807.hp1
NA18906.hp1
NA18951.hp2
NA18959.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp1
NA19030.hp1
NA19058.hp2
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.283+1064_283+1077d
others(16): Show 
c.283+1064_283+1077delGAAAGAAAGAAAGA
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299020
chr1:155299020 TTCTTTCT
others(25): Show 
TTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTC
T
T
1 a0001c0002t0002g0204
a0001c0002t0002g0204
1 HG03195.hp2
HG03195.hp2
intron_variant MODIFIER c.283+1046_283+1077d
others(34): Show 
c.283+1046_283+1077delGAAAGAAAGAAAGAAAGAGAAAGAAAGA
AAGA
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299020
chr1:155299022 CTTTCTTT
others(8): Show 
CTTTCTTTCTTTCTCT
C
C
1 a0001c0001t0001g0132
a0001c0001t0001g0132
1 NA19010.hp1
NA19010.hp1
intron_variant MODIFIER c.283+1061_283+1075d
others(17): Show 
c.283+1061_283+1075delAGAGAAAGAAAGAAA
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299022
chr1:155299022 CTTTCTTT
others(9): Show 
CTTTCTTTCTTTCTCTT
C
C
1 a0001c0002t0002g0201
a0001c0002t0002g0201
1 NA18612.hp1
NA18612.hp1
intron_variant MODIFIER c.283+1060_283+1075d
others(18): Show 
c.283+1060_283+1075delAAGAGAAAGAAAGAAA
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299022
chr1:155299023 T
T
C
C
1 a0001c0001t0001g0141
a0001c0001t0001g0141
1 HG03710.hp1
HG03710.hp1
intron_variant MODIFIER c.283+1075A>G
c.283+1075A>G
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299023
chr1:155299023 TTTCTTTC
others(4): Show 
TTTCTTTCTTTC
T
T
1 a0001c0002t0002g0152
a0001c0002t0002g0152
1 NA19067.hp1
NA19067.hp1
intron_variant MODIFIER c.283+1064_283+1074d
others(13): Show 
c.283+1064_283+1074delGAAAGAAAGAA
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299023
chr1:155299023 TTTCTTTC
others(6): Show 
TTTCTTTCTTTCTC
T
T
1 a0001c0001t0001g0070
a0001c0001t0001g0070
1 NA19000.hp2
NA19000.hp2
intron_variant MODIFIER c.283+1062_283+1074d
others(15): Show 
c.283+1062_283+1074delGAGAAAGAAAGAA
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299023
chr1:155299023 TTTCTTTC
others(14): Show 
TTTCTTTCTTTCTCTTTCTTTC
T
T
1 a0001c0001t0001g0073
a0001c0001t0001g0073
1 NA18942.hp2
NA18942.hp2
intron_variant MODIFIER c.283+1054_283+1074d
others(23): Show 
c.283+1054_283+1074delGAAAGAAAGAGAAAGAAAGAA
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299023
chr1:155299024 TTCTTTCT
others(3): Show 
TTCTTTCTTTC
T
T
16 a0001c0001t0001g0028
a0001c0001t0001g0042
a0001c0001t0001g0051
others(13): Show 
a0001c0001t0001g0028
a0001c0001t0001g0042
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0075
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0137
a0001c0001t0001g0141
a0001c0001t0003g0023
18 HG00099.hp2
HG00438.hp1
HG00438.hp2
others(15): Show 
HG00099.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp2
HG01070.hp2
HG01257.hp2
HG01496.hp1
HG01934.hp2
HG02896.hp2
HG02970.hp1
HG03453.hp2
HG03710.hp1
NA18522.hp1
NA18956.hp2
NA18963.hp1
NA18994.hp1
NA18994.hp2
NA19090.hp2
intron_variant MODIFIER c.283+1064_283+1073d
others(12): Show 
c.283+1064_283+1073delGAAAGAAAGA
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299024
chr1:155299026 CTTTCTTT
others(9): Show 
CTTTCTTTCTCTTTCTT
C
C
1 a0001c0001t0001g0072
a0001c0001t0001g0072
1 HG02965.hp1
HG02965.hp1
intron_variant MODIFIER c.283+1056_283+1071d
others(18): Show 
c.283+1056_283+1071delAAGAAAGAGAAAGAAA
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299026
chr1:155299028 TTCTTTC
TTCTTTC
T
T
12 a0001c0001t0001g0004
a0001c0001t0001g0060
a0001c0001t0001g0088
others(9): Show 
a0001c0001t0001g0004
a0001c0001t0001g0060
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0005t0001g0211
a0002c0003t0001g0090
19 HG00408.hp1
HG00741.hp1
HG01071.hp2
others(16): Show 
HG00408.hp1
HG00741.hp1
HG01071.hp2
HG01074.hp1
HG01884.hp2
HG01891.hp1
HG01975.hp1
HG02129.hp1
HG02293.hp2
HG03195.hp1
HG03688.hp2
HG03942.hp2
NA18944.hp2
NA18960.hp2
NA18963.hp2
NA18964.hp2
NA19030.hp2
NA19070.hp1
NA19070.hp2
intron_variant MODIFIER c.283+1064_283+1069d
others(8): Show 
c.283+1064_283+1069delGAAAGA
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299028
chr1:155299028 TTCTTTCT
others(9): Show 
TTCTTTCTCTTTCTTTC
T
T
1 a0001c0001t0001g0052
a0001c0001t0001g0052
1 HG03486.hp2
HG03486.hp2
intron_variant MODIFIER c.283+1054_283+1069d
others(18): Show 
c.283+1054_283+1069delGAAAGAAAGAGAAAGA
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299028
chr1:155299031 T
T
C
C
1 a0001c0001t0001g0140
a0001c0001t0001g0140
1 NA18954.hp1
NA18954.hp1
intron_variant MODIFIER c.283+1067A>G
c.283+1067A>G
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299031
chr1:155299031 T
T
TTTCTTTC
others(4): Show 
TTTCTTTCTTTC
1 a0001c0002t0002g0149
a0001c0002t0002g0149
1 HG03516.hp1
HG03516.hp1
intron_variant MODIFIER c.283+1066_283+1067i
others(13): Show 
c.283+1066_283+1067insGAAAGAAAGAA
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299031
chr1:155299032 TTC
TTC
T
T
18 a0001c0001t0001g0012
a0001c0001t0001g0027
a0001c0001t0001g0074
others(15): Show 
a0001c0001t0001g0012
a0001c0001t0001g0027
a0001c0001t0001g0074
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0109
a0001c0001t0001g0130
a0001c0001t0001g0140
a0001c0001t0001g0214
a0001c0002t0002g0151
a0001c0002t0002g0171
a0001c0002t0002g0205
a0001c0002t0002g0206
a0001c0002t0002g0207
a0001c0002t0002g0209
a0001c0002t0002g0210
a0004c0010t0001g0059
a0007c0008t0001g0087
21 HG00741.hp2
HG01069.hp2
HG01261.hp1
others(18): Show 
HG00741.hp2
HG01069.hp2
HG01261.hp1
HG02055.hp2
HG02074.hp2
HG02257.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp1
HG03130.hp2
HG03516.hp2
HG03654.hp1
NA18946.hp2
NA18954.hp1
NA18977.hp2
NA18990.hp1
NA19002.hp1
NA19010.hp2
NA19074.hp1
NA20300.hp1
NA20905.hp1
intron_variant MODIFIER c.283+1064_283+1065d
others(4): Show 
c.283+1064_283+1065delGA
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299032
chr1:155299034 C
C
CTT
CTT
4 a0001c0001t0001g0058
a0001c0001t0001g0084
a0001c0001t0001g0133
others(1): Show 
a0001c0001t0001g0058
a0001c0001t0001g0084
a0001c0001t0001g0133
a0001c0002t0002g0169
4 HG02055.hp1
HG02683.hp1
NA18992.hp2
others(1): Show 
HG02055.hp1
HG02683.hp1
NA18992.hp2
NA19063.hp1
intron_variant MODIFIER c.283+1063_283+1064i
others(4): Show 
c.283+1063_283+1064insAA
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299034
chr1:155299036 C
C
T
T
2 a0001c0001t0001g0083
a0001c0002t0002g0200
a0001c0001t0001g0083
a0001c0002t0002g0200
2 HG01981.hp1
NA19082.hp1
HG01981.hp1
NA19082.hp1
intron_variant MODIFIER c.283+1062G>A
c.283+1062G>A
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299036
chr1:155299037 T
T
C
C
12 a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0133
others(9): Show 
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
12 HG01891.hp1
HG02055.hp1
HG02280.hp1
others(9): Show 
HG01891.hp1
HG02055.hp1
HG02280.hp1
HG02970.hp1
HG03195.hp1
HG03239.hp1
HG03710.hp1
NA18954.hp1
NA18960.hp1
NA18960.hp2
NA19000.hp1
NA19000.hp2
intron_variant MODIFIER c.283+1061A>G
c.283+1061A>G
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299037
chr1:155299038 T
T
C
C
1 a0001c0002t0002g0200
a0001c0002t0002g0200
1 NA19082.hp1
NA19082.hp1
intron_variant MODIFIER c.283+1060A>G
c.283+1060A>G
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299038
chr1:155299041 T
T
C
C
95 a0001c0001t0001g0004
a0001c0001t0001g0006
a0001c0001t0001g0008
others(92): Show 
a0001c0001t0001g0004
a0001c0001t0001g0006
a0001c0001t0001g0008
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0047
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0111
a0001c0001t0001g0112
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0004g0122
a0002c0003t0001g0090
a0004c0010t0001g0059
a0007c0008t0001g0087
122 HG00099.hp1
HG00140.hp1
HG00280.hp2
others(119): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp2
HG00408.hp1
HG00438.hp1
HG00438.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01099.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp2
HG01257.hp2
HG01433.hp2
HG01496.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp2
HG02165.hp2
HG02280.hp1
HG02293.hp2
HG02523.hp1
HG02559.hp2
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02895.hp2
HG02970.hp1
HG02976.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03516.hp2
HG03579.hp1
HG03654.hp1
HG03688.hp2
HG03710.hp1
HG03927.hp2
HG03942.hp2
HG04228.hp1
NA18522.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18959.hp1
NA18960.hp1
NA18960.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18970.hp1
NA18973.hp2
NA18977.hp2
NA18979.hp2
NA18980.hp2
NA18981.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18990.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19010.hp1
NA19010.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19063.hp1
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19077.hp2
NA19082.hp2
NA19090.hp2
NA19240.hp1
NA20752.hp1
NA20905.hp1
NA21309.hp2
intron_variant MODIFIER c.283+1057A>G
c.283+1057A>G
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299041
chr1:155299045 T
T
C
C
126 a0001c0001t0001g0004
a0001c0001t0001g0006
a0001c0001t0001g0008
others(123): Show 
a0001c0001t0001g0004
a0001c0001t0001g0006
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0022
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0111
a0001c0001t0001g0112
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0003g0023
a0001c0001t0004g0122
a0001c0001t0008g0215
a0001c0005t0001g0211
a0001c0005t0001g0212
a0002c0003t0001g0079
a0002c0003t0001g0080
a0002c0003t0001g0090
a0004c0010t0001g0059
a0007c0008t0001g0087
a0008c0006t0001g0041
160 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(157): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00408.hp1
HG00438.hp1
HG00438.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01099.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01257.hp2
HG01261.hp1
HG01433.hp2
HG01496.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp2
HG02165.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03688.hp2
HG03710.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp2
HG04199.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18970.hp1
NA18973.hp2
NA18977.hp2
NA18979.hp2
NA18980.hp2
NA18981.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18990.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19063.hp1
NA19063.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19077.hp2
NA19082.hp2
NA19090.hp2
NA19240.hp1
NA20752.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.283+1053A>G
c.283+1053A>G
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299045
chr1:155299049 T
T
C
C
128 a0001c0001t0001g0004
a0001c0001t0001g0006
a0001c0001t0001g0008
others(125): Show 
a0001c0001t0001g0004
a0001c0001t0001g0006
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0022
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0111
a0001c0001t0001g0112
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0003g0023
a0001c0001t0004g0122
a0001c0001t0008g0215
a0001c0002t0002g0167
a0001c0002t0002g0168
a0001c0005t0001g0211
a0001c0005t0001g0212
a0002c0003t0001g0079
a0002c0003t0001g0080
a0002c0003t0001g0090
a0004c0010t0001g0059
a0007c0008t0001g0087
a0008c0006t0001g0041
162 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(159): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00408.hp1
HG00438.hp1
HG00438.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01099.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01257.hp2
HG01261.hp1
HG01433.hp2
HG01496.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp2
HG02165.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03688.hp2
HG03710.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp2
HG04199.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18970.hp1
NA18973.hp2
NA18977.hp2
NA18979.hp2
NA18980.hp2
NA18981.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18990.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19063.hp1
NA19063.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19077.hp2
NA19082.hp2
NA19090.hp2
NA19240.hp1
NA20752.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.283+1049A>G
c.283+1049A>G
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299049
chr1:155299053 C
C
T
T
2 a0001c0002t0002g0169
a0001c0002t0002g0170
a0001c0002t0002g0169
a0001c0002t0002g0170
2 HG02602.hp2
HG02683.hp1
HG02602.hp2
HG02683.hp1
intron_variant MODIFIER c.283+1045G>A
c.283+1045G>A
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299053
chr1:155299069 C
C
T
T
7 a0001c0002t0002g0204
a0001c0002t0002g0205
a0001c0002t0002g0206
others(4): Show 
a0001c0002t0002g0204
a0001c0002t0002g0205
a0001c0002t0002g0206
a0001c0002t0002g0207
a0001c0002t0002g0208
a0001c0002t0002g0209
a0001c0002t0002g0210
7 HG02055.hp2
HG02723.hp1
HG02895.hp1
others(4): Show 
HG02055.hp2
HG02723.hp1
HG02895.hp1
HG02897.hp1
HG02976.hp1
HG03130.hp2
HG03195.hp2
intron_variant MODIFIER c.283+1029G>A
c.283+1029G>A
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299069
chr1:155299073 T
T
C
C
1 a0001c0001t0008g0215
a0001c0001t0008g0215
1 NA19011.hp1
NA19011.hp1
intron_variant MODIFIER c.283+1025A>G
c.283+1025A>G
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299073
chr1:155299076 C
C
T
T
1 a0001c0001t0008g0215
a0001c0001t0008g0215
1 NA19011.hp1
NA19011.hp1
intron_variant MODIFIER c.283+1022G>A
c.283+1022G>A
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299076
chr1:155299077 T
T
C
C
1 a0001c0001t0008g0215
a0001c0001t0008g0215
1 NA19011.hp1
NA19011.hp1
intron_variant MODIFIER c.283+1021A>G
c.283+1021A>G
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299077
chr1:155299167 C
C
T
T
140 a0001c0001t0001g0004
a0001c0001t0001g0006
a0001c0001t0001g0008
others(137): Show 
a0001c0001t0001g0004
a0001c0001t0001g0006
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0022
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0111
a0001c0001t0001g0112
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0003g0023
a0001c0001t0004g0122
a0001c0001t0008g0215
a0001c0002t0002g0044
a0001c0002t0002g0045
a0001c0002t0002g0046
a0001c0002t0002g0147
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0202
a0001c0002t0002g0204
a0001c0002t0002g0205
a0001c0002t0002g0206
a0001c0002t0002g0207
a0001c0002t0002g0208
a0001c0002t0002g0209
a0001c0002t0002g0210
a0001c0005t0001g0211
a0001c0005t0001g0212
a0002c0003t0001g0079
a0002c0003t0001g0080
a0002c0003t0001g0090
a0004c0010t0001g0059
a0007c0008t0001g0087
a0008c0006t0001g0041
174 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(171): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00408.hp1
HG00438.hp1
HG00438.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01257.hp2
HG01261.hp1
HG01433.hp2
HG01496.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp2
HG02165.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03688.hp2
HG03710.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp2
HG04199.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18970.hp1
NA18973.hp2
NA18977.hp2
NA18979.hp2
NA18980.hp2
NA18981.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18990.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19063.hp1
NA19063.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19077.hp2
NA19082.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20752.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.283+931G>A
c.283+931G>A
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299167
chr1:155299389 C
C
T
T
1 a0001c0001t0001g0051
a0001c0001t0001g0051
1 NA18994.hp1
NA18994.hp1
intron_variant MODIFIER c.283+709G>A
c.283+709G>A
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299389
chr1:155299491 C
C
CTT
CTT
6 a0001c0002t0002g0147
a0001c0002t0002g0150
a0001c0002t0002g0204
others(3): Show 
a0001c0002t0002g0147
a0001c0002t0002g0150
a0001c0002t0002g0204
a0001c0002t0002g0205
a0001c0002t0002g0206
a0001c0002t0002g0207
6 HG02723.hp1
HG02897.hp1
HG03130.hp2
others(3): Show 
HG02723.hp1
HG02897.hp1
HG03130.hp2
HG03195.hp2
NA19058.hp1
NA19240.hp2
intron_variant MODIFIER c.283+605_283+606dup
others(2): Show 
c.283+605_283+606dupAA
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299491
chr1:155299491 C
C
CTTTTTTT
others(11): Show 
CTTTTTTTTTTTTTTTTTT
2 a0001c0002t0002g0045
a0001c0002t0002g0046
a0001c0002t0002g0045
a0001c0002t0002g0046
2 HG01109.hp2
HG02630.hp2
HG01109.hp2
HG02630.hp2
intron_variant MODIFIER c.283+589_283+606dup
others(18): Show 
c.283+589_283+606dupAAAAAAAAAAAAAAAAAA
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299491
chr1:155299491 C
C
CTTTTTTT
others(12): Show 
CTTTTTTTTTTTTTTTTTTT
1 a0001c0002t0002g0044
a0001c0002t0002g0044
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.283+588_283+606dup
others(19): Show 
c.283+588_283+606dupAAAAAAAAAAAAAAAAAAA
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299491
chr1:155299491 CT
CT
C
C
70 a0001c0001t0001g0011
a0001c0001t0001g0022
a0001c0001t0001g0042
others(67): Show 
a0001c0001t0001g0011
a0001c0001t0001g0022
a0001c0001t0001g0042
a0001c0001t0001g0047
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0213
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0003
a0001c0002t0002g0005
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0020
a0001c0002t0002g0021
a0001c0002t0002g0039
a0001c0002t0002g0040
a0001c0002t0002g0169
a0001c0002t0002g0170
a0001c0002t0002g0171
a0001c0002t0002g0172
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0175
a0001c0002t0002g0177
a0001c0002t0002g0178
a0001c0002t0002g0179
a0001c0002t0002g0180
a0001c0002t0002g0184
a0001c0002t0002g0186
a0001c0002t0002g0188
a0001c0002t0002g0189
a0001c0002t0002g0190
a0001c0002t0002g0191
a0001c0002t0002g0193
a0001c0002t0002g0194
a0001c0002t0002g0195
a0001c0002t0002g0196
a0001c0002t0002g0197
a0001c0002t0002g0198
a0001c0002t0002g0199
a0001c0002t0002g0200
a0001c0002t0002g0201
a0001c0002t0005g0192
a0001c0002t0006g0183
a0001c0002t0007g0187
a0003c0004t0002g0176
a0003c0004t0002g0181
a0004c0010t0001g0059
a0005c0007t0002g0185
a0006c0009t0002g0182
113 HG00280.hp1
HG00408.hp1
HG00408.hp2
others(110): Show 
HG00280.hp1
HG00408.hp1
HG00408.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01109.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01496.hp1
HG01516.hp1
HG01516.hp2
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02071.hp1
HG02129.hp2
HG02135.hp2
HG02165.hp1
HG02280.hp2
HG02293.hp1
HG02486.hp2
HG02523.hp2
HG02572.hp2
HG02602.hp2
HG02683.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03209.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03579.hp1
HG03654.hp2
HG03688.hp1
HG03710.hp2
HG03927.hp2
HG04115.hp1
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18943.hp1
NA18946.hp1
NA18951.hp1
NA18954.hp2
NA18956.hp1
NA18957.hp1
NA18959.hp2
NA18962.hp1
NA18964.hp1
NA18970.hp2
NA18973.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18981.hp1
NA18983.hp1
NA18984.hp2
NA18985.hp2
NA18992.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19003.hp2
NA19011.hp2
NA19056.hp2
NA19063.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19082.hp1
NA19088.hp1
NA19088.hp2
NA20300.hp1
NA20752.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.283+606delA
c.283+606delA
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299491
chr1:155299491 CTT
CTT
C
C
92 a0001c0001t0001g0004
a0001c0001t0001g0006
a0001c0001t0001g0008
others(89): Show 
a0001c0001t0001g0004
a0001c0001t0001g0006
a0001c0001t0001g0008
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0043
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0111
a0001c0001t0001g0112
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0214
a0001c0001t0003g0023
a0001c0001t0004g0122
a0001c0001t0008g0215
a0001c0002t0002g0202
a0001c0002t0002g0203
a0002c0003t0001g0079
a0002c0003t0001g0080
a0002c0003t0001g0090
a0007c0008t0001g0087
a0008c0006t0001g0041
123 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(120): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00597.hp2
HG00639.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01099.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01257.hp2
HG01261.hp1
HG01433.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp2
HG02129.hp1
HG02145.hp2
HG02165.hp2
HG02280.hp1
HG02293.hp2
HG02523.hp1
HG02559.hp2
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02970.hp1
HG02976.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03688.hp2
HG03710.hp1
HG03831.hp2
HG03834.hp2
HG03942.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18970.hp1
NA18973.hp2
NA18977.hp2
NA18980.hp2
NA18983.hp2
NA18984.hp1
NA18990.hp1
NA18992.hp2
NA18994.hp2
NA18995.hp2
NA18999.hp1
NA19002.hp1
NA19003.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp1
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19063.hp2
NA19068.hp1
NA19077.hp2
NA19082.hp2
NA19090.hp2
NA19240.hp1
NA20752.hp1
NA20905.hp1
NA21309.hp2
intron_variant MODIFIER c.283+605_283+606del
others(2): Show 
c.283+605_283+606delAA
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299491
chr1:155299491 CTTT
CTTT
C
C
6 a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
others(3): Show 
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0005t0001g0211
a0001c0005t0001g0212
6 HG01975.hp1
HG02258.hp2
HG02818.hp2
others(3): Show 
HG01975.hp1
HG02258.hp2
HG02818.hp2
HG03834.hp1
NA19070.hp1
NA19070.hp2
intron_variant MODIFIER c.283+604_283+606del
others(3): Show 
c.283+604_283+606delAAA
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299491
chr1:155299695 G
G
T
T
3 a0001c0002t0002g0147
a0001c0002t0002g0148
a0001c0002t0002g0149
a0001c0002t0002g0147
a0001c0002t0002g0148
a0001c0002t0002g0149
3 HG01884.hp1
HG03516.hp1
NA19240.hp2
HG01884.hp1
HG03516.hp1
NA19240.hp2
intron_variant MODIFIER c.283+403C>A
c.283+403C>A
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299695
chr1:155299755 C
C
T
T
1 a0001c0001t0001g0047
a0001c0001t0001g0047
1 HG03471.hp2
HG03471.hp2
intron_variant MODIFIER c.283+343G>A
c.283+343G>A
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299755
chr1:155299985 A
A
G
G
136 a0001c0001t0001g0004
a0001c0001t0001g0006
a0001c0001t0001g0008
others(133): Show 
a0001c0001t0001g0004
a0001c0001t0001g0006
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0022
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0111
a0001c0001t0001g0112
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0003g0023
a0001c0001t0004g0122
a0001c0001t0008g0215
a0001c0002t0002g0044
a0001c0002t0002g0045
a0001c0002t0002g0046
a0001c0002t0002g0204
a0001c0002t0002g0205
a0001c0002t0002g0206
a0001c0002t0002g0207
a0001c0002t0002g0208
a0001c0002t0002g0209
a0001c0002t0002g0210
a0001c0005t0001g0211
a0001c0005t0001g0212
a0002c0003t0001g0079
a0002c0003t0001g0080
a0002c0003t0001g0090
a0004c0010t0001g0059
a0007c0008t0001g0087
a0008c0006t0001g0041
170 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(167): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00408.hp1
HG00438.hp1
HG00438.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01257.hp2
HG01261.hp1
HG01433.hp2
HG01496.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp2
HG02165.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03688.hp2
HG03710.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp2
HG04199.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18970.hp1
NA18973.hp2
NA18977.hp2
NA18979.hp2
NA18980.hp2
NA18981.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18990.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19063.hp1
NA19063.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19077.hp2
NA19082.hp2
NA19090.hp2
NA19240.hp1
NA20752.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.283+113T>C
c.283+113T>C
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299985
chr1:155299989 G
G
A
A
10 a0001c0002t0002g0044
a0001c0002t0002g0045
a0001c0002t0002g0046
others(7): Show 
a0001c0002t0002g0044
a0001c0002t0002g0045
a0001c0002t0002g0046
a0001c0002t0002g0204
a0001c0002t0002g0205
a0001c0002t0002g0206
a0001c0002t0002g0207
a0001c0002t0002g0208
a0001c0002t0002g0209
a0001c0002t0002g0210
10 HG01109.hp2
HG02055.hp2
HG02630.hp2
others(7): Show 
HG01109.hp2
HG02055.hp2
HG02630.hp2
HG02723.hp1
HG02895.hp1
HG02897.hp1
HG02976.hp1
HG03130.hp2
HG03195.hp2
NA19030.hp1
intron_variant MODIFIER c.283+109C>T
c.283+109C>T
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155299989
chr1:155300039 A
A
T
T
3 a0001c0002t0002g0044
a0001c0002t0002g0045
a0001c0002t0002g0046
a0001c0002t0002g0044
a0001c0002t0002g0045
a0001c0002t0002g0046
3 HG01109.hp2
HG02630.hp2
NA19030.hp1
HG01109.hp2
HG02630.hp2
NA19030.hp1
intron_variant MODIFIER c.283+59T>A
c.283+59T>A
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 2/10 chr1 155300039
chr1:155300605 G
G
A
A
1 a0001c0001t0001g0213
a0001c0001t0001g0213
1 HG03579.hp1
HG03579.hp1
intron_variant MODIFIER c.101-325C>T
c.101-325C>T
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 1/10 chr1 155300605
chr1:155300676 C
C
T
T
1 a0001c0001t0001g0043
a0001c0001t0001g0043
1 HG02040.hp2
HG02040.hp2
intron_variant MODIFIER c.101-396G>A
c.101-396G>A
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 1/10 chr1 155300676
chr1:155300687 A
A
T
T
1 a0001c0001t0008g0215
a0001c0001t0008g0215
1 NA19011.hp1
NA19011.hp1
intron_variant MODIFIER c.101-407T>A
c.101-407T>A
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 1/10 chr1 155300687
chr1:155300877 G
G
A
A
1 a0001c0001t0001g0214
a0001c0001t0001g0214
1 NA19010.hp2
NA19010.hp2
intron_variant MODIFIER c.100+419C>T
c.100+419C>T
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 1/10 chr1 155300877
chr1:155301169 C
C
T
T
1 a0001c0001t0001g0042
a0001c0001t0001g0042
1 HG01496.hp1
HG01496.hp1
intron_variant MODIFIER c.100+127G>A
c.100+127G>A
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 1/10 chr1 155301169
chr1:155301223 C
C
A
A
1 a0008c0006t0001g0041
a0008c0006t0001g0041
1 NA18957.hp2
NA18957.hp2
intron_variant MODIFIER c.100+73G>T
c.100+73G>T
PKLR ENSG00000143627.19 transcript ENST00000342741.6 protein_coding 1/10 chr1 155301223

  • 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)
​

IGV Connection Help

IGV must be running on your computer before clicking the button.

If your browser shows the "cannot open the page" error, launch IGV and allow access via port 60151:

  1. Open IGV on your computer
  2. In IGV's menu bar: View → Preferences…
  3. Click on the "Advanced" tab
  4. Check "Enable port"
  5. Set the port number to 60151
  6. Click OK to save

For more details, please refer to Information → FAQ.