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?   APPL1_chr3_57222729_57278471  APPL1_chr3_57222729_57278471 (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 26060
ensemblid ENSG00000157500.12
hgncid 24035
symbol APPL1
name adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1
refseq_nuc NM_012096.3
refseq_prot NP_036228.1
ensembl_nuc ENST00000288266.8
ensembl_prot ENSP00000288266.3
mane_status MANE Select
chr chr3
start 57227729
end 57273471
strand +
ver v1.2
region chr3:57227729-57273471
region5000 chr3:57222729-57278471
regionname0 APPL1_chr3_57227729_57273471
regionname5000 APPL1_chr3_57222729_57278471

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 1/0 709 235 81 47 60 11 35 48 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0002 0/1 709 20 0 11 0 3 5 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0003 0/0 709 6 6 0 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0004 0/0 709 2 2 0 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0005 0/0 709 1 0 0 1 0 0 1 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0006 0/0 709 1 0 0 1 0 0 1 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0007 0/0 709 1 1 0 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 1/0 2130 227 77 44 60 11 34 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
c0002 0/1 2130 20 0 11 0 3 5 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
c0003 0/0 2130 6 6 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
c0004 0/0 2130 5 4 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
c0005 0/0 2130 2 2 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
c0006 0/0 2130 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
c0007 0/0 2130 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
c0008 0/0 2130 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
c0009 0/0 2130 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
c0010 0/0 2130 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
c0011 0/0 2130 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 0/0 3940 93 8 19 42 7 17 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
t0002 1/0 3940 66 8 18 19 4 16 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
t0003 0/1 3938 41 19 13 0 3 5 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
t0004 0/0 3940 23 21 2 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
t0005 0/0 3940 6 6 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
t0006 0/0 3940 4 4 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
t0007 0/0 3941 3 3 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
t0008 0/0 3939 3 3 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
t0009 0/0 3941 3 2 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
t0010 0/0 3940 3 2 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
t0011 0/0 3940 2 0 2 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
t0012 0/0 3940 2 0 1 0 0 1 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
t0013 0/0 3941 2 2 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
t0014 0/0 3940 2 2 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
t0015 0/0 3940 2 2 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
t0016 0/0 3940 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
t0017 0/0 3939 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
t0018 0/0 3918 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
t0019 0/0 3941 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
t0020 0/0 3940 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
t0021 0/0 3940 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
t0022 0/0 3938 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
t0023 0/0 3940 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
t0024 0/0 3940 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
t0025 0/0 3940 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
t0026 0/0 3940 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 11 1 0 6 2 2 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0002 0/0 6 6 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0003 0/0 4 0 0 1 0 3 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0004 0/0 4 0 2 0 1 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0005 0/0 4 0 2 0 0 2 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0006 0/0 4 0 0 4 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0007 0/0 3 3 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0008 0/0 3 0 0 3 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0009 0/0 3 3 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0010 0/0 3 3 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0011 0/0 2 0 2 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0012 0/0 2 0 2 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0013 0/0 2 0 0 2 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0014 0/0 2 0 0 2 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0015 0/0 2 0 0 0 1 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0016 0/0 2 0 0 0 0 2 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0017 0/0 2 0 1 0 1 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0018 0/0 2 2 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0019 0/0 2 0 0 1 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0020 0/0 2 2 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0021 0/0 2 0 0 0 2 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0022 0/0 2 2 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0023 1/0 2 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0024 0/0 2 1 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0025 0/0 2 0 1 0 1 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0026 0/0 2 0 1 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0027 0/0 2 0 0 2 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0028 0/0 2 1 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0029 0/0 2 2 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0030 0/0 2 0 2 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0031 0/0 2 2 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0032 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0033 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0034 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0035 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0036 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0037 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0038 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0039 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0040 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0041 0/0 1 0 0 0 1 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0042 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0043 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0044 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0045 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0046 0/0 1 0 0 0 1 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0047 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0048 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0049 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0050 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0051 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0052 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0053 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0054 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0055 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0056 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0057 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0058 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0059 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0060 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0061 0/0 1 0 0 0 1 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0062 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0063 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0064 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0065 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0066 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0067 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0068 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0069 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0070 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0071 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0072 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0073 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0074 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0075 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0076 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0077 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0078 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0079 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0080 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0081 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0082 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0083 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0084 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0085 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0086 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0087 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0088 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0089 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0090 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0091 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0092 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0093 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0094 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0095 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0096 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0097 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0098 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0099 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0100 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0101 0/1 1 0 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0102 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0103 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0104 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0105 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0106 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0107 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0108 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0109 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0110 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0111 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0112 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0113 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0114 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0115 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0116 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0117 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0118 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0119 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0120 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0121 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0122 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0123 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0124 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0125 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0126 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0127 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0128 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0129 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0130 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0131 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0132 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0133 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0134 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0135 0/0 1 0 0 0 1 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0136 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0137 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0138 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0139 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0140 0/0 1 0 0 0 1 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0141 0/0 1 0 0 0 1 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0142 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0143 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0144 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0145 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0146 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0147 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0148 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0149 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0150 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0151 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0152 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0153 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0154 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0155 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0156 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0157 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0158 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0159 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0160 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0161 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0162 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0163 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0164 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0165 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0166 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0167 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0168 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0169 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0170 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0171 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0172 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0173 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0174 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0175 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0176 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0177 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0178 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0179 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0180 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0181 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0182 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0183 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0184 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0185 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0186 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0187 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0188 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0189 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0190 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0191 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0192 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0193 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0194 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0195 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0196 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0197 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0198 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0199 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0200 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0201 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0202 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0203 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0204 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0205 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0206 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0207 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0208 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0209 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
g0210 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 1/0 2130 227 77 44 60 11 34 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0001c0004 0/0 2130 5 4 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0001c0006 0/0 2130 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0001c0009 0/0 2130 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0001c0011 0/0 2130 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0002c0002 0/1 2130 20 0 11 0 3 5 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0003c0003 0/0 2130 6 6 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0004c0005 0/0 2130 2 2 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0005c0007 0/0 2130 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0006c0008 0/0 2130 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0007c0010 0/0 2130 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 0/0 6069 90 6 19 41 7 17 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0001c0001t0002 1/0 6069 62 8 16 18 4 15 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0001c0001t0003 0/0 6067 21 19 2 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0001c0001t0004 0/0 6069 16 14 2 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0001c0001t0005 0/0 6069 6 6 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0001c0001t0006 0/0 6069 4 4 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0001c0001t0007 0/0 6070 3 3 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0001c0001t0008 0/0 6068 3 3 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0001c0001t0010 0/0 6069 3 2 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0001c0001t0011 0/0 6069 2 0 2 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0001c0001t0012 0/0 6069 2 0 1 0 0 1 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0001c0001t0014 0/0 6069 2 2 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0001c0001t0015 0/0 6069 2 2 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0001c0001t0016 0/0 6069 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0001c0001t0017 0/0 6068 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0001c0001t0018 0/0 6047 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0001c0001t0019 0/0 6070 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0001c0001t0020 0/0 6069 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0001c0001t0021 0/0 6069 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0001c0001t0022 0/0 6067 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0001c0001t0023 0/0 6069 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0001c0001t0024 0/0 6069 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0001c0001t0025 0/0 6069 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0001c0001t0026 0/0 6069 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0001c0004t0009 0/0 6070 3 2 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0001c0004t0013 0/0 6070 2 2 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0001c0006t0002 0/0 6069 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0001c0009t0002 0/0 6069 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0001c0011t0002 0/0 6069 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0002c0002t0003 0/1 6067 20 0 11 0 3 5 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0003c0003t0004 0/0 6069 6 6 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0004c0005t0001 0/0 6069 2 2 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0005c0007t0002 0/0 6069 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0006c0008t0001 0/0 6069 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471
a0007c0010t0004 0/0 6069 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 copy fasta chr3 57222729 57278471

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0001 0/0 11 1 0 6 2 2 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0003 0/0 4 0 0 1 0 3 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0006 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0007 0/0 3 3 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0008 0/0 3 0 0 3 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0011 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0012 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0013 0/0 2 0 0 2 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0014 0/0 2 0 0 2 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0015 0/0 2 0 0 0 1 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0016 0/0 2 0 0 0 0 2 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0017 0/0 2 0 1 0 1 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0019 0/0 2 0 0 1 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0033 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0035 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0036 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0037 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0038 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0039 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0040 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0041 0/0 1 0 0 0 1 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0042 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0043 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0044 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0045 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0046 0/0 1 0 0 0 1 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0047 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0049 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0050 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0051 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0052 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0053 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0054 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0055 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0057 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0058 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0059 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0060 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0061 0/0 1 0 0 0 1 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0062 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0063 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0064 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0065 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0066 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0067 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0068 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0069 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0070 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0071 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0072 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0073 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0074 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0075 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0076 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0077 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0078 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0079 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0080 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0081 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0082 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0083 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0084 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0085 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0086 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0087 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0088 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0001g0181 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0006 0/0 3 0 0 3 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0023 1/0 2 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0025 0/0 2 0 1 0 1 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0026 0/0 2 0 1 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0027 0/0 2 0 0 2 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0090 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0093 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0103 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0112 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0113 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0114 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0115 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0118 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0121 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0128 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0130 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0131 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0133 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0134 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0135 0/0 1 0 0 0 1 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0136 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0137 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0138 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0139 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0140 0/0 1 0 0 0 1 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0141 0/0 1 0 0 0 1 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0142 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0143 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0144 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0145 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0146 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0147 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0148 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0149 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0150 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0151 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0152 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0153 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0154 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0160 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0163 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0165 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0166 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0170 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0171 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0172 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0173 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0174 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0175 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0176 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0177 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0178 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0179 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0180 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0182 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0002g0196 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0003g0002 0/0 6 6 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0003g0022 0/0 2 2 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0003g0024 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0003g0095 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0003g0096 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0003g0097 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0003g0099 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0003g0102 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0003g0107 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0003g0109 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0003g0126 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0003g0127 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0003g0129 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0003g0162 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0003g0169 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0004g0010 0/0 3 3 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0004g0030 0/0 2 0 2 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0004g0031 0/0 2 2 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0004g0198 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0004g0199 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0004g0200 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0004g0201 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0004g0202 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0004g0204 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0004g0206 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0004g0207 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0004g0208 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0005g0009 0/0 3 3 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0005g0122 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0005g0167 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0005g0168 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0006g0203 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0006g0205 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0006g0209 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0006g0210 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0007g0020 0/0 2 2 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0007g0110 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0008g0116 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0008g0117 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0008g0124 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0010g0028 0/0 2 1 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0010g0194 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0011g0011 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0011g0012 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0012g0032 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0012g0092 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0014g0029 0/0 2 2 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0015g0185 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0015g0188 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0016g0119 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0017g0123 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0018g0164 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0019g0104 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0020g0091 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0021g0034 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0022g0024 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0023g0195 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0024g0187 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0025g0192 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0001t0026g0048 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0004t0009g0156 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0004t0009g0157 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0004t0009g0183 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0004t0013g0155 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0004t0013g0158 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0006t0002g0120 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0009t0002g0100 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0001c0011t0002g0132 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0002c0002t0003g0004 0/0 4 0 2 0 1 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0002c0002t0003g0005 0/0 4 0 2 0 0 2 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0002c0002t0003g0021 0/0 2 0 0 0 2 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0002c0002t0003g0056 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0002c0002t0003g0094 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0002c0002t0003g0098 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0002c0002t0003g0101 0/1 1 0 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0002c0002t0003g0105 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0002c0002t0003g0106 0/0 1 0 0 0 0 1 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0002c0002t0003g0108 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0002c0002t0003g0111 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0002c0002t0003g0125 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0002c0002t0003g0161 0/0 1 0 1 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0003c0003t0004g0159 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0003c0003t0004g0184 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0003c0003t0004g0186 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0003c0003t0004g0190 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0003c0003t0004g0191 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0003c0003t0004g0193 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0004c0005t0001g0018 0/0 2 2 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0005c0007t0002g0197 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0006c0008t0001g0089 0/0 1 0 0 1 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
a0007c0010t0004g0189 0/0 1 1 0 0 0 0 APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00099 hp1 a0001 c0001 t0002 g0025 EUR GBR APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG00099 hp2 a0001 c0001 t0001 g0017 EUR GBR APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG00280 hp1 a0001 c0001 t0001 g0041 EUR FIN APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG00280 hp2 a0002 c0002 t0003 g0004 EUR FIN APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG00544 hp1 a0001 c0001 t0002 g0149 EAS CHS APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG00544 hp2 a0001 c0001 t0001 g0013 EAS CHS APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG00609 hp1 a0001 c0001 t0001 g0001 EAS CHS APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG00609 hp2 a0001 c0001 t0002 g0143 EAS CHS APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG00639 hp1 a0001 c0001 t0012 g0092 AMR PUR APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG00639 hp2 a0001 c0001 t0001 g0055 AMR PUR APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG00642 hp1 a0001 c0001 t0001 g0071 AMR PUR APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG00642 hp2 a0001 c0001 t0002 g0172 AMR PUR APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG00735 hp1 a0001 c0001 t0002 g0174 AMR PUR APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG00735 hp2 a0001 c0001 t0002 g0121 AMR PUR APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG00738 hp1 a0001 c0001 t0001 g0058 AMR PUR APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG00738 hp2 a0002 c0002 t0003 g0161 AMR PUR APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG00741 hp1 a0001 c0001 t0002 g0137 AMR PUR APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG00741 hp2 a0001 c0001 t0001 g0017 AMR PUR APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01071 hp1 a0001 c0001 t0001 g0083 AMR PUR APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01071 hp2 a0001 c0001 t0002 g0136 AMR PUR APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01081 hp1 a0001 c0001 t0002 g0138 AMR PUR APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01081 hp2 a0001 c0011 t0002 g0132 AMR PUR APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01099 hp1 a0002 c0002 t0003 g0111 AMR PUR APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01099 hp2 a0001 c0001 t0003 g0102 AMR PUR APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01109 hp1 a0001 c0004 t0009 g0156 AMR PUR APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01109 hp2 a0001 c0001 t0002 g0163 AMR PUR APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01167 hp1 a0001 c0001 t0001 g0052 AMR PUR APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01167 hp2 a0001 c0001 t0004 g0030 AMR PUR APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01168 hp1 a0001 c0001 t0001 g0011 AMR PUR APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01168 hp2 a0001 c0001 t0002 g0131 AMR PUR APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01169 hp1 a0001 c0001 t0001 g0012 AMR PUR APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01169 hp2 a0001 c0001 t0004 g0030 AMR PUR APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01192 hp1 a0001 c0001 t0001 g0067 AMR PUR APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01192 hp2 a0002 c0002 t0003 g0004 AMR PUR APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01243 hp1 a0001 c0001 t0002 g0160 AMR PUR APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01243 hp2 a0001 c0001 t0003 g0024 AMR PUR APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01256 hp1 a0002 c0002 t0003 g0125 AMR CLM APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01256 hp2 a0001 c0001 t0001 g0075 AMR CLM APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01257 hp1 a0001 c0001 t0011 g0011 AMR CLM APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01257 hp2 a0001 c0001 t0002 g0182 AMR CLM APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01258 hp1 a0001 c0001 t0011 g0012 AMR CLM APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01258 hp2 a0002 c0002 t0003 g0005 AMR CLM APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01261 hp1 a0001 c0001 t0001 g0069 AMR CLM APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01261 hp2 a0002 c0002 t0003 g0004 AMR CLM APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01346 hp1 a0001 c0001 t0002 g0130 AMR CLM APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01346 hp2 a0001 c0001 t0001 g0073 AMR CLM APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01358 hp1 a0001 c0009 t0002 g0100 AMR CLM APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01358 hp2 a0002 c0002 t0003 g0108 AMR CLM APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01361 hp1 a0001 c0001 t0001 g0033 AMR CLM APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01361 hp2 a0001 c0001 t0002 g0171 AMR CLM APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01433 hp1 a0001 c0001 t0001 g0088 AMR CLM APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01433 hp2 a0002 c0002 t0003 g0094 AMR CLM APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01496 hp1 a0002 c0002 t0003 g0005 AMR CLM APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01496 hp2 a0001 c0001 t0002 g0025 AMR CLM APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01515 hp1 a0002 c0002 t0003 g0021 EUR IBS APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01515 hp2 a0001 c0001 t0001 g0061 EUR IBS APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01516 hp1 a0001 c0001 t0001 g0001 EUR IBS APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01516 hp2 a0001 c0001 t0002 g0141 EUR IBS APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01517 hp1 a0002 c0002 t0003 g0021 EUR IBS APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01517 hp2 a0001 c0001 t0001 g0001 EUR IBS APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01884 hp1 a0001 c0001 t0007 g0110 AFR ACB APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01884 hp2 a0001 c0001 t0003 g0022 AFR ACB APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01891 hp1 a0001 c0001 t0004 g0200 AFR ACB APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01891 hp2 a0001 c0001 t0014 g0029 AFR ACB APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01928 hp1 a0001 c0001 t0002 g0133 AMR PEL APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01928 hp2 a0001 c0001 t0001 g0070 AMR PEL APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01934 hp1 a0001 c0001 t0010 g0028 AMR PEL APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01934 hp2 a0001 c0001 t0001 g0045 AMR PEL APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01981 hp1 a0001 c0001 t0001 g0074 AMR PEL APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01981 hp2 a0001 c0001 t0002 g0173 AMR PEL APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01993 hp1 a0002 c0002 t0003 g0098 AMR PEL APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01993 hp2 a0001 c0001 t0001 g0040 AMR PEL APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02040 hp1 a0001 c0001 t0001 g0044 EAS KHV APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02040 hp2 a0001 c0001 t0001 g0001 EAS KHV APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02055 hp1 a0001 c0001 t0005 g0167 AFR ACB APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02055 hp2 a0001 c0001 t0002 g0176 AFR ACB APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02080 hp1 a0001 c0001 t0001 g0053 EAS KHV APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02080 hp2 a0001 c0001 t0001 g0062 EAS KHV APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02132 hp1 a0001 c0001 t0001 g0013 EAS KHV APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02132 hp2 a0001 c0001 t0002 g0148 EAS KHV APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02135 hp1 a0001 c0001 t0002 g0142 EAS KHV APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02135 hp2 a0001 c0001 t0001 g0085 EAS KHV APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02148 hp1 a0002 c0002 t0003 g0105 AMR PEL APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02148 hp2 a0001 c0001 t0001 g0059 AMR PEL APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02258 hp1 a0001 c0001 t0005 g0009 AFR ACB APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02258 hp2 a0001 c0001 t0002 g0170 AFR ACB APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02280 hp1 a0001 c0001 t0008 g0116 AFR ACB APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02280 hp2 a0001 c0001 t0003 g0099 AFR ACB APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02451 hp1 a0001 c0004 t0013 g0158 AFR ACB APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02451 hp2 a0001 c0001 t0003 g0002 AFR ACB APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02615 hp1 a0001 c0001 t0010 g0194 AFR GWD APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02615 hp2 a0001 c0001 t0002 g0023 AFR GWD APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02622 hp1 a0001 c0001 t0005 g0009 AFR GWD APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02622 hp2 a0001 c0001 t0004 g0198 AFR GWD APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02630 hp1 a0007 c0010 t0004 g0189 AFR GWD APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02630 hp2 a0001 c0001 t0014 g0029 AFR GWD APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02647 hp1 a0001 c0001 t0008 g0124 AFR GWD APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02647 hp2 a0001 c0001 t0004 g0031 AFR GWD APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02683 hp1 a0001 c0001 t0002 g0139 SAS PJL APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02683 hp2 a0001 c0001 t0002 g0128 SAS PJL APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02698 hp1 a0001 c0001 t0002 g0134 SAS PJL APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02698 hp2 a0001 c0001 t0001 g0015 SAS PJL APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02717 hp1 a0001 c0004 t0009 g0183 AFR GWD APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02717 hp2 a0001 c0001 t0004 g0199 AFR GWD APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02735 hp1 a0001 c0001 t0002 g0154 SAS PJL APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02735 hp2 a0001 c0001 t0001 g0003 SAS PJL APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02809 hp1 a0001 c0001 t0002 g0090 AFR GWD APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02809 hp2 a0003 c0003 t0004 g0193 AFR GWD APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02818 hp1 a0001 c0001 t0001 g0063 AFR GWD APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02818 hp2 a0001 c0001 t0006 g0203 AFR GWD APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02886 hp1 a0003 c0003 t0004 g0190 AFR GWD APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02886 hp2 a0001 c0001 t0010 g0028 AFR GWD APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02895 hp1 a0001 c0001 t0003 g0097 AFR GWD APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02895 hp2 a0001 c0001 t0004 g0207 AFR GWD APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02896 hp1 a0001 c0001 t0003 g0096 AFR GWD APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02896 hp2 a0001 c0001 t0001 g0007 AFR GWD APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02897 hp1 a0001 c0001 t0001 g0007 AFR GWD APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02897 hp2 a0001 c0001 t0004 g0206 AFR GWD APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02922 hp1 a0003 c0003 t0004 g0191 AFR ESN APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02922 hp2 a0001 c0001 t0007 g0020 AFR ESN APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02965 hp1 a0001 c0001 t0004 g0202 AFR ESN APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02965 hp2 a0004 c0005 t0001 g0018 AFR ESN APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02970 hp1 a0001 c0001 t0008 g0117 AFR ESN APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02970 hp2 a0001 c0001 t0001 g0086 AFR ESN APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02976 hp1 a0001 c0004 t0009 g0157 AFR ESN APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02976 hp2 a0001 c0001 t0003 g0129 AFR ESN APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03017 hp1 a0001 c0001 t0002 g0118 SAS PJL APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03017 hp2 a0001 c0001 t0001 g0019 SAS PJL APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03041 hp1 a0001 c0001 t0002 g0114 AFR GWD APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03041 hp2 a0001 c0001 t0006 g0210 AFR GWD APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03098 hp1 a0001 c0001 t0004 g0010 AFR MSL APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03098 hp2 a0001 c0001 t0003 g0162 AFR MSL APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03130 hp1 a0001 c0001 t0005 g0009 AFR ESN APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03130 hp2 a0001 c0001 t0023 g0195 AFR ESN APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03139 hp1 a0001 c0001 t0006 g0209 AFR ESN APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03139 hp2 a0001 c0001 t0022 g0024 AFR ESN APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03195 hp1 a0001 c0001 t0003 g0002 AFR ESN APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03195 hp2 a0001 c0001 t0002 g0145 AFR ESN APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03209 hp1 a0001 c0001 t0002 g0103 AFR MSL APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03209 hp2 a0001 c0001 t0004 g0201 AFR MSL APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03239 hp1 a0001 c0001 t0002 g0153 SAS PJL APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03239 hp2 a0002 c0002 t0003 g0005 SAS PJL APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03453 hp1 a0001 c0001 t0024 g0187 AFR MSL APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03453 hp2 a0001 c0001 t0007 g0020 AFR MSL APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03486 hp1 a0001 c0001 t0005 g0168 AFR MSL APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03486 hp2 a0001 c0001 t0004 g0204 AFR MSL APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03492 hp1 a0001 c0001 t0001 g0042 SAS PJL APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03492 hp2 a0001 c0001 t0002 g0177 SAS PJL APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03516 hp1 a0001 c0001 t0015 g0185 AFR ESN APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03516 hp2 a0001 c0001 t0003 g0095 AFR ESN APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03540 hp1 a0001 c0001 t0004 g0208 AFR GWD APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03540 hp2 a0001 c0001 t0003 g0002 AFR GWD APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03579 hp1 a0001 c0001 t0003 g0126 AFR MSL APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03579 hp2 a0001 c0004 t0013 g0155 AFR MSL APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03654 hp1 a0001 c0001 t0001 g0016 SAS PJL APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03654 hp2 a0001 c0001 t0001 g0181 SAS PJL APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03669 hp1 a0001 c0001 t0012 g0032 SAS PJL APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03669 hp2 a0002 c0002 t0003 g0056 SAS PJL APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03688 hp1 a0001 c0001 t0002 g0093 SAS STU APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03688 hp2 a0001 c0001 t0002 g0112 SAS STU APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03704 hp1 a0002 c0002 t0003 g0004 SAS PJL APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03704 hp2 a0001 c0001 t0001 g0003 SAS PJL APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03831 hp1 a0002 c0002 t0003 g0005 SAS BEB APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03831 hp2 a0001 c0001 t0001 g0016 SAS BEB APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03834 hp1 a0001 c0001 t0001 g0076 SAS BEB APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03834 hp2 a0001 c0001 t0002 g0150 SAS BEB APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03927 hp1 a0001 c0001 t0001 g0065 SAS BEB APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03927 hp2 a0001 c0006 t0002 g0120 SAS BEB APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03942 hp1 a0001 c0001 t0001 g0077 SAS BEB APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03942 hp2 a0001 c0001 t0002 g0179 SAS BEB APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG04115 hp1 a0001 c0001 t0002 g0180 SAS STU APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG04115 hp2 a0001 c0001 t0001 g0047 SAS STU APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG04184 hp1 a0001 c0001 t0001 g0078 SAS BEB APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG04184 hp2 a0001 c0001 t0002 g0175 SAS BEB APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG04199 hp1 a0001 c0001 t0001 g0001 SAS STU APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG04199 hp2 a0001 c0001 t0002 g0165 SAS STU APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG04204 hp1 a0001 c0001 t0018 g0164 SAS STU APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG04204 hp2 a0001 c0001 t0001 g0003 SAS STU APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG04228 hp1 a0001 c0001 t0001 g0036 SAS STU APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG04228 hp2 a0001 c0001 t0002 g0166 SAS STU APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA18522 hp1 a0001 c0001 t0006 g0205 AFR YRI APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA18522 hp2 a0001 c0001 t0003 g0002 AFR YRI APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA18906 hp1 a0001 c0001 t0016 g0119 AFR YRI APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA18906 hp2 a0001 c0001 t0003 g0169 AFR YRI APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA18940 hp1 a0001 c0001 t0001 g0050 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA18940 hp2 a0001 c0001 t0002 g0113 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA18942 hp1 a0001 c0001 t0001 g0008 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA18942 hp2 a0001 c0001 t0002 g0026 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA18943 hp1 a0001 c0001 t0001 g0037 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA18943 hp2 a0001 c0001 t0002 g0027 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA18946 hp1 a0001 c0001 t0026 g0048 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA18946 hp2 a0001 c0001 t0002 g0006 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA18947 hp1 a0001 c0001 t0002 g0147 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA18947 hp2 a0001 c0001 t0001 g0019 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA18950 hp1 a0001 c0001 t0001 g0006 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA18950 hp2 a0001 c0001 t0001 g0003 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA18962 hp1 a0001 c0001 t0001 g0054 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA18962 hp2 a0001 c0001 t0001 g0060 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA18966 hp1 a0001 c0001 t0001 g0014 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA18966 hp2 a0001 c0001 t0001 g0038 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA18968 hp1 a0001 c0001 t0001 g0057 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA18968 hp2 a0001 c0001 t0001 g0079 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA18978 hp1 a0001 c0001 t0001 g0068 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA18978 hp2 a0001 c0001 t0001 g0084 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA18979 hp1 a0001 c0001 t0001 g0066 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA18979 hp2 a0001 c0001 t0001 g0064 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA18980 hp1 a0001 c0001 t0001 g0001 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA18980 hp2 a0001 c0001 t0002 g0152 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA18981 hp1 a0001 c0001 t0001 g0008 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA18981 hp2 a0001 c0001 t0002 g0027 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA18982 hp1 a0001 c0001 t0001 g0082 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA18982 hp2 a0005 c0007 t0002 g0197 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA18986 hp1 a0001 c0001 t0002 g0006 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA18986 hp2 a0001 c0001 t0001 g0008 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA18988 hp1 a0001 c0001 t0001 g0014 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA18988 hp2 a0001 c0001 t0001 g0035 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA19005 hp1 a0001 c0001 t0002 g0196 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA19005 hp2 a0001 c0001 t0001 g0081 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA19007 hp1 a0001 c0001 t0001 g0001 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA19007 hp2 a0001 c0001 t0002 g0151 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA19030 hp1 a0001 c0001 t0019 g0104 AFR LWK APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA19030 hp2 a0001 c0001 t0003 g0002 AFR LWK APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA19043 hp1 a0001 c0001 t0003 g0127 AFR LWK APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA19043 hp2 a0001 c0001 t0003 g0109 AFR LWK APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA19064 hp1 a0001 c0001 t0002 g0146 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA19064 hp2 a0001 c0001 t0001 g0051 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA19066 hp1 a0001 c0001 t0001 g0087 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA19066 hp2 a0001 c0001 t0002 g0178 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA19074 hp1 a0001 c0001 t0001 g0049 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA19074 hp2 a0001 c0001 t0001 g0001 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA19078 hp1 a0001 c0001 t0001 g0043 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA19078 hp2 a0001 c0001 t0002 g0115 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA19079 hp1 a0001 c0001 t0001 g0039 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA19079 hp2 a0001 c0001 t0001 g0072 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA19084 hp1 a0001 c0001 t0001 g0001 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA19084 hp2 a0001 c0001 t0002 g0006 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA19090 hp1 a0001 c0001 t0001 g0080 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA19090 hp2 a0006 c0008 t0001 g0089 EAS JPT APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA19240 hp1 a0001 c0001 t0003 g0022 AFR YRI APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA19240 hp2 a0001 c0001 t0004 g0031 AFR YRI APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA20129 hp1 a0003 c0003 t0004 g0184 AFR ASW APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA20129 hp2 a0001 c0001 t0004 g0010 AFR ASW APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA20752 hp1 a0001 c0001 t0001 g0046 EUR TSI APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA20752 hp2 a0001 c0001 t0002 g0140 EUR TSI APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA20805 hp1 a0001 c0001 t0002 g0135 EUR TSI APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA20805 hp2 a0001 c0001 t0001 g0015 EUR TSI APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA20905 hp1 a0002 c0002 t0003 g0106 SAS GIH APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA20905 hp2 a0001 c0001 t0001 g0001 SAS GIH APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01123 hp1 a0001 c0001 t0002 g0026 AMR CLM APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG01123 hp2 a0001 c0001 t0021 g0034 AMR CLM APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02109 hp1 a0001 c0001 t0003 g0107 AFR ACB APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02109 hp2 a0003 c0003 t0004 g0186 AFR ACB APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02486 hp1 a0001 c0001 t0015 g0188 AFR ACB APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02486 hp2 a0001 c0001 t0020 g0091 AFR ACB APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02559 hp1 a0001 c0001 t0025 g0192 AFR ACB APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG02559 hp2 a0004 c0005 t0001 g0018 AFR ACB APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03471 hp1 a0003 c0003 t0004 g0159 AFR MSL APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG03471 hp2 a0001 c0001 t0004 g0010 AFR MSL APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG06807 hp1 a0001 c0001 t0017 g0123 AFR USA APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
HG06807 hp2 a0001 c0001 t0001 g0007 AFR USA APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA20300 hp1 a0001 c0001 t0001 g0001 AFR USA APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA20300 hp2 a0001 c0001 t0003 g0002 AFR USA APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA21309 hp1 a0001 c0001 t0005 g0122 AFR LWK APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
NA21309 hp2 a0001 c0001 t0002 g0144 AFR LWK APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
homoSapiens_chm13v2 hp1 a0002 c0002 t0003 g0101 REF REF APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471
homoSapiens_grch38 hp1 a0001 c0001 t0002 g0023 REF REF APPL1_chr3_57222729_57278471 APPL1 chr3 57222729 57278471

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
chr3:57237538 A
A
 G
G
 1 a0007
a0007
 1 HG02630.hp1
HG02630.hp1
 missense_variant MODERATE c.200A>G
c.200A>G
 p.Glu67Gly
p.Glu67Gly
 APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 3/22 355/6069 200/2130 67/709 chr3 57237538
chr3:57242121 G
G
 A
A
 1 a0005
a0005
 1 NA18982.hp2
NA18982.hp2
 missense_variant MODERATE c.394G>A
c.394G>A
 p.Val132Ile
p.Val132Ile
 APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 6/22 549/6069 394/2130 132/709 chr3 57242121
chr3:57249498 C
C
 G
G
 1 a0003
a0003
 6 HG02109.hp2
HG02809.hp2
HG02886.hp1
others(3): Show 
HG02109.hp2
HG02809.hp2
HG02886.hp1
HG02922.hp1
HG03471.hp1
NA20129.hp1
 missense_variant MODERATE c.1002C>G
c.1002C>G
 p.Asp334Glu
p.Asp334Glu
 APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 11/22 1157/6069 1002/2130 334/709 chr3 57249498
chr3:57257260 C
C
 T
T
 1 a0004
a0004
 2 HG02559.hp2
HG02965.hp2
HG02559.hp2
HG02965.hp2
 missense_variant MODERATE c.1262C>T
c.1262C>T
 p.Pro421Leu
p.Pro421Leu
 APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 15/22 1417/6069 1262/2130 421/709 chr3 57257260
chr3:57268430 A
A
 G
G
 1 a0006
a0006
 1 NA19090.hp2
NA19090.hp2
 missense_variant MODERATE c.1926A>G
c.1926A>G
 p.Ile642Met
p.Ile642Met
 APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 21/22 2081/6069 1926/2130 642/709 chr3 57268430
chr3:57269656 A
A
 G
G
 1 a0002
a0002
 20 HG00280.hp2
HG00738.hp2
HG01099.hp1
others(17): Show 
HG00280.hp2
HG00738.hp2
HG01099.hp1
HG01192.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp1
HG01993.hp1
HG02148.hp1
HG03239.hp2
HG03669.hp2
HG03704.hp1
HG03831.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.2099A>G
c.2099A>G
 p.Glu700Gly
p.Glu700Gly
 APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 22/22 2254/6069 2099/2130 700/709 chr3 57269656

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
chr3:57227892 G
G
 A
A
 1 a0001c0006
a0001c0006
 1 HG03927.hp2
HG03927.hp2
 synonymous_variant LOW c.9G>A
c.9G>A
 p.Gly3Gly
p.Gly3Gly
 APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/22 164/6069 9/2130 3/709 chr3 57227892
chr3:57235580 A
A
 G
G
 1 a0001c0011
a0001c0011
 1 HG01081.hp2
HG01081.hp2
 synonymous_variant LOW c.69A>G
c.69A>G
 p.Leu23Leu
p.Leu23Leu
 APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 2/22 224/6069 69/2130 23/709 chr3 57235580
chr3:57248238 A
A
 G
G
 1 a0001c0009
a0001c0009
 1 HG01358.hp1
HG01358.hp1
 synonymous_variant LOW c.750A>G
c.750A>G
 p.Thr250Thr
p.Thr250Thr
 APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 10/22 905/6069 750/2130 250/709 chr3 57248238
chr3:57257010 A
A
 G
G
 1 a0001c0004
a0001c0004
 5 HG01109.hp1
HG02451.hp1
HG02717.hp1
others(2): Show 
HG01109.hp1
HG02451.hp1
HG02717.hp1
HG02976.hp1
HG03579.hp2
 synonymous_variant LOW c.1206A>G
c.1206A>G
 p.Pro402Pro
p.Pro402Pro
 APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 14/22 1361/6069 1206/2130 402/709 chr3 57257010

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
chr3:57227744 G
G
 C
C
 1 a0001c0001t0016
a0001c0001t0016
 1 NA18906.hp1
NA18906.hp1
 5_prime_UTR_variant MODIFIER c.-140G>C
c.-140G>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/22 140 chr3 57227744
chr3:57227762 G
G
 T
T
 1 a0001c0001t0026
a0001c0001t0026
 1 NA18946.hp1
NA18946.hp1
 5_prime_UTR_premature_start_codon_gain_variant LOW c.-122G>T
c.-122G>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/22 chr3 57227762
chr3:57227798 G
G
 A
A
 1 a0001c0001t0011
a0001c0001t0011
 2 HG01257.hp1
HG01258.hp1
HG01257.hp1
HG01258.hp1
 5_prime_UTR_variant MODIFIER c.-86G>A
c.-86G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/22 86 chr3 57227798
chr3:57227856 C
C
 T
T
 1 a0001c0001t0025
a0001c0001t0025
 1 HG02559.hp1
HG02559.hp1
 5_prime_UTR_variant MODIFIER c.-28C>T
c.-28C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/22 28 chr3 57227856
chr3:57227866 C
C
 T
T
 10 a0001c0001t0004
a0001c0001t0006
a0001c0001t0010
others(7): Show 
a0001c0001t0004
a0001c0001t0006
a0001c0001t0010
a0001c0001t0014
a0001c0001t0015
a0001c0001t0023
a0001c0001t0024
a0001c0001t0025
a0003c0003t0004
a0007c0010t0004
 37 HG01167.hp2
HG01169.hp2
HG01891.hp1
others(34): Show 
HG01167.hp2
HG01169.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02109.hp2
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp1
NA18522.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
 5_prime_UTR_premature_start_codon_gain_variant LOW c.-18C>T
c.-18C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/22 chr3 57227866
chr3:57270189 T
T
 G
G
 2 a0001c0001t0010
a0001c0001t0023
a0001c0001t0010
a0001c0001t0023
 4 HG01934.hp1
HG02615.hp1
HG02886.hp2
others(1): Show 
HG01934.hp1
HG02615.hp1
HG02886.hp2
HG03130.hp2
 3_prime_UTR_variant MODIFIER c.*502T>G
c.*502T>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 22/22 502 chr3 57270189
chr3:57270199 T
T
 C
C
 1 a0001c0001t0025
a0001c0001t0025
 1 HG02559.hp1
HG02559.hp1
 3_prime_UTR_variant MODIFIER c.*512T>C
c.*512T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 22/22 512 chr3 57270199
chr3:57270522 A
A
 G
G
 2 a0001c0001t0005
a0001c0001t0006
a0001c0001t0005
a0001c0001t0006
 10 HG02055.hp1
HG02258.hp1
HG02622.hp1
others(7): Show 
HG02055.hp1
HG02258.hp1
HG02622.hp1
HG02818.hp2
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03486.hp1
NA18522.hp1
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*835A>G
c.*835A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 22/22 835 chr3 57270522
chr3:57270581 G
G
 A
A
 1 a0001c0001t0007
a0001c0001t0007
 3 HG01884.hp1
HG02922.hp2
HG03453.hp2
HG01884.hp1
HG02922.hp2
HG03453.hp2
 3_prime_UTR_variant MODIFIER c.*894G>A
c.*894G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 22/22 894 chr3 57270581
chr3:57270961 G
G
 A
A
 1 a0001c0001t0016
a0001c0001t0016
 1 NA18906.hp1
NA18906.hp1
 3_prime_UTR_variant MODIFIER c.*1274G>A
c.*1274G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 22/22 1274 chr3 57270961
chr3:57270977 C
C
 T
T
 1 a0001c0001t0024
a0001c0001t0024
 1 HG03453.hp1
HG03453.hp1
 3_prime_UTR_variant MODIFIER c.*1290C>T
c.*1290C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 22/22 1290 chr3 57270977
chr3:57271142 C
C
 T
T
 3 a0001c0001t0003
a0001c0001t0022
a0002c0002t0003
a0001c0001t0003
a0001c0001t0022
a0002c0002t0003
 42 HG00280.hp2
HG00738.hp2
HG01099.hp1
others(39): Show 
HG00280.hp2
HG00738.hp2
HG01099.hp1
HG01099.hp2
HG01192.hp2
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp1
HG01884.hp2
HG01993.hp1
HG02109.hp1
HG02148.hp1
HG02280.hp2
HG02451.hp2
HG02895.hp1
HG02896.hp1
HG02976.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03239.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA20300.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*1455C>T
c.*1455C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 22/22 1455 chr3 57271142
chr3:57271215 A
A
 G
G
 24 a0001c0001t0001
a0001c0001t0003
a0001c0001t0004
others(21): Show 
a0001c0001t0001
a0001c0001t0003
a0001c0001t0004
a0001c0001t0005
a0001c0001t0006
a0001c0001t0010
a0001c0001t0011
a0001c0001t0012
a0001c0001t0014
a0001c0001t0015
a0001c0001t0020
a0001c0001t0021
a0001c0001t0022
a0001c0001t0023
a0001c0001t0024
a0001c0001t0025
a0001c0001t0026
a0001c0004t0009
a0001c0004t0013
a0002c0002t0003
a0003c0003t0004
a0004c0005t0001
a0006c0008t0001
a0007c0010t0004
 190 HG00099.hp2
HG00280.hp1
HG00280.hp2
others(187): Show 
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp2
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02258.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18946.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA19005.hp2
NA19007.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19079.hp2
NA19084.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*1528A>G
c.*1528A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 22/22 1528 chr3 57271215
chr3:57271222 TCA
TCA
 T
T
 3 a0001c0001t0003
a0001c0001t0022
a0002c0002t0003
a0001c0001t0003
a0001c0001t0022
a0002c0002t0003
 42 HG00280.hp2
HG00738.hp2
HG01099.hp1
others(39): Show 
HG00280.hp2
HG00738.hp2
HG01099.hp1
HG01099.hp2
HG01192.hp2
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp1
HG01884.hp2
HG01993.hp1
HG02109.hp1
HG02148.hp1
HG02280.hp2
HG02451.hp2
HG02895.hp1
HG02896.hp1
HG02976.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03239.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA20300.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*1539_*1540delAC
c.*1539_*1540delAC
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 22/22 1539 INFO_REALIGN_3_PRIME chr3 57271222
chr3:57271446 T
T
 C
C
 1 a0001c0001t0022
a0001c0001t0022
 1 HG03139.hp2
HG03139.hp2
 3_prime_UTR_variant MODIFIER c.*1759T>C
c.*1759T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 22/22 1759 chr3 57271446
chr3:57271759 G
G
 T
T
 1 a0001c0001t0024
a0001c0001t0024
 1 HG03453.hp1
HG03453.hp1
 3_prime_UTR_variant MODIFIER c.*2072G>T
c.*2072G>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 22/22 2072 chr3 57271759
chr3:57271821 C
C
 T
T
 1 a0001c0001t0021
a0001c0001t0021
 1 HG01123.hp2
HG01123.hp2
 3_prime_UTR_variant MODIFIER c.*2134C>T
c.*2134C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 22/22 2134 chr3 57271821
chr3:57271843 T
T
 C
C
 1 a0001c0001t0012
a0001c0001t0012
 2 HG00639.hp1
HG03669.hp1
HG00639.hp1
HG03669.hp1
 3_prime_UTR_variant MODIFIER c.*2156T>C
c.*2156T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 22/22 2156 chr3 57271843
chr3:57271890 TC
TC
 T
T
 2 a0001c0001t0008
a0001c0001t0017
a0001c0001t0008
a0001c0001t0017
 4 HG02280.hp1
HG02647.hp1
HG02970.hp1
others(1): Show 
HG02280.hp1
HG02647.hp1
HG02970.hp1
HG06807.hp1
 3_prime_UTR_variant MODIFIER c.*2205delC
c.*2205delC
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 22/22 2205 INFO_REALIGN_3_PRIME chr3 57271890
chr3:57272101 T
T
 C
C
 2 a0001c0004t0009
a0001c0004t0013
a0001c0004t0009
a0001c0004t0013
 5 HG01109.hp1
HG02451.hp1
HG02717.hp1
others(2): Show 
HG01109.hp1
HG02451.hp1
HG02717.hp1
HG02976.hp1
HG03579.hp2
 3_prime_UTR_variant MODIFIER c.*2414T>C
c.*2414T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 22/22 2414 chr3 57272101
chr3:57272155 T
T
 C
C
 1 a0001c0001t0010
a0001c0001t0010
 3 HG01934.hp1
HG02615.hp1
HG02886.hp2
HG01934.hp1
HG02615.hp1
HG02886.hp2
 3_prime_UTR_variant MODIFIER c.*2468T>C
c.*2468T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 22/22 2468 chr3 57272155
chr3:57272198 C
C
 T
T
 1 a0001c0001t0017
a0001c0001t0017
 1 HG06807.hp1
HG06807.hp1
 3_prime_UTR_variant MODIFIER c.*2511C>T
c.*2511C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 22/22 2511 chr3 57272198
chr3:57272291 T
T
 C
C
 23 a0001c0001t0001
a0001c0001t0003
a0001c0001t0004
others(20): Show 
a0001c0001t0001
a0001c0001t0003
a0001c0001t0004
a0001c0001t0005
a0001c0001t0006
a0001c0001t0010
a0001c0001t0011
a0001c0001t0012
a0001c0001t0014
a0001c0001t0015
a0001c0001t0021
a0001c0001t0022
a0001c0001t0023
a0001c0001t0024
a0001c0001t0025
a0001c0001t0026
a0001c0004t0009
a0001c0004t0013
a0002c0002t0003
a0003c0003t0004
a0004c0005t0001
a0006c0008t0001
a0007c0010t0004
 189 HG00099.hp2
HG00280.hp1
HG00280.hp2
others(186): Show 
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp2
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02258.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18946.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA19005.hp2
NA19007.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19079.hp2
NA19084.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*2604T>C
c.*2604T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 22/22 2604 chr3 57272291
chr3:57272583 C
C
 A
A
 3 a0001c0001t0003
a0001c0001t0022
a0002c0002t0003
a0001c0001t0003
a0001c0001t0022
a0002c0002t0003
 42 HG00280.hp2
HG00738.hp2
HG01099.hp1
others(39): Show 
HG00280.hp2
HG00738.hp2
HG01099.hp1
HG01099.hp2
HG01192.hp2
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp1
HG01884.hp2
HG01993.hp1
HG02109.hp1
HG02148.hp1
HG02280.hp2
HG02451.hp2
HG02895.hp1
HG02896.hp1
HG02976.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03239.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA20300.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*2896C>A
c.*2896C>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 22/22 2896 chr3 57272583
chr3:57272598 G
G
 GA
GA
 2 a0001c0004t0009
a0001c0004t0013
a0001c0004t0009
a0001c0004t0013
 5 HG01109.hp1
HG02451.hp1
HG02717.hp1
others(2): Show 
HG01109.hp1
HG02451.hp1
HG02717.hp1
HG02976.hp1
HG03579.hp2
 3_prime_UTR_variant MODIFIER c.*2920dupA
c.*2920dupA
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 22/22 2921 INFO_REALIGN_3_PRIME chr3 57272598
chr3:57272610 G
G
 GT
GT
 2 a0001c0001t0007
a0001c0001t0019
a0001c0001t0007
a0001c0001t0019
 4 HG01884.hp1
HG02922.hp2
HG03453.hp2
others(1): Show 
HG01884.hp1
HG02922.hp2
HG03453.hp2
NA19030.hp1
 3_prime_UTR_variant MODIFIER c.*2930dupT
c.*2930dupT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 22/22 2931 INFO_REALIGN_3_PRIME chr3 57272610
chr3:57272754 C
C
 T
T
 6 a0001c0001t0001
a0001c0001t0011
a0001c0001t0021
others(3): Show 
a0001c0001t0001
a0001c0001t0011
a0001c0001t0021
a0001c0001t0026
a0004c0005t0001
a0006c0008t0001
 97 HG00099.hp2
HG00280.hp1
HG00544.hp2
others(94): Show 
HG00099.hp2
HG00280.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01071.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01928.hp2
HG01934.hp2
HG01981.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02132.hp1
HG02135.hp2
HG02148.hp2
HG02559.hp2
HG02698.hp2
HG02735.hp2
HG02818.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp2
HG03492.hp1
HG03654.hp1
HG03654.hp2
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18946.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA19005.hp2
NA19007.hp1
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19079.hp2
NA19084.hp1
NA19090.hp1
NA19090.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
 3_prime_UTR_variant MODIFIER c.*3067C>T
c.*3067C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 22/22 3067 chr3 57272754
chr3:57272850 C
C
 T
T
 1 a0001c0004t0009
a0001c0004t0009
 3 HG01109.hp1
HG02717.hp1
HG02976.hp1
HG01109.hp1
HG02717.hp1
HG02976.hp1
 3_prime_UTR_variant MODIFIER c.*3163C>T
c.*3163C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 22/22 3163 chr3 57272850
chr3:57272909 A
A
 G
G
 1 a0001c0001t0015
a0001c0001t0015
 2 HG02486.hp1
HG03516.hp1
HG02486.hp1
HG03516.hp1
 3_prime_UTR_variant MODIFIER c.*3222A>G
c.*3222A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 22/22 3222 chr3 57272909
chr3:57272933 G
G
 A
A
 23 a0001c0001t0001
a0001c0001t0003
a0001c0001t0004
others(20): Show 
a0001c0001t0001
a0001c0001t0003
a0001c0001t0004
a0001c0001t0005
a0001c0001t0006
a0001c0001t0010
a0001c0001t0011
a0001c0001t0012
a0001c0001t0014
a0001c0001t0015
a0001c0001t0021
a0001c0001t0022
a0001c0001t0023
a0001c0001t0024
a0001c0001t0025
a0001c0001t0026
a0001c0004t0009
a0001c0004t0013
a0002c0002t0003
a0003c0003t0004
a0004c0005t0001
a0006c0008t0001
a0007c0010t0004
 189 HG00099.hp2
HG00280.hp1
HG00280.hp2
others(186): Show 
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp2
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02258.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18946.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA19005.hp2
NA19007.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19079.hp2
NA19084.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*3246G>A
c.*3246G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 22/22 3246 chr3 57272933
chr3:57273243 TAATCATG
others(15): Show 
TAATCATGCAGTGTACAATTCAA
 T
T
 1 a0001c0001t0018
a0001c0001t0018
 1 HG04204.hp1
HG04204.hp1
 3_prime_UTR_variant MODIFIER c.*3566_*3587delGTGT
others(18): Show 
c.*3566_*3587delGTGTACAATTCAAAATCATGCA
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 22/22 3566 INFO_REALIGN_3_PRIME chr3 57273243
chr3:57273263 C
C
 T
T
 10 a0001c0001t0004
a0001c0001t0005
a0001c0001t0006
others(7): Show 
a0001c0001t0004
a0001c0001t0005
a0001c0001t0006
a0001c0001t0010
a0001c0001t0015
a0001c0001t0023
a0001c0001t0024
a0001c0001t0025
a0003c0003t0004
a0007c0010t0004
 41 HG01167.hp2
HG01169.hp2
HG01891.hp1
others(38): Show 
HG01167.hp2
HG01169.hp2
HG01891.hp1
HG01934.hp1
HG02055.hp1
HG02109.hp2
HG02258.hp1
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
NA18522.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*3576C>T
c.*3576C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 22/22 3576 chr3 57273263

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
chr3:57228000 C
C
 T
T
 17 a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
others(14): Show 
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0014g0029
 22 HG01167.hp2
HG01169.hp2
HG01891.hp1
others(19): Show 
HG01167.hp2
HG01169.hp2
HG01891.hp1
HG01891.hp2
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02818.hp2
HG02895.hp2
HG02897.hp2
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03209.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
NA18522.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.54+63C>T
c.54+63C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57228000
chr3:57228132 C
C
 T
T
 4 a0001c0001t0001g0006
a0001c0001t0002g0006
a0001c0001t0002g0196
others(1): Show 
a0001c0001t0001g0006
a0001c0001t0002g0006
a0001c0001t0002g0196
a0005c0007t0002g0197
 6 NA18946.hp2
NA18950.hp1
NA18982.hp2
others(3): Show 
NA18946.hp2
NA18950.hp1
NA18982.hp2
NA18986.hp1
NA19005.hp1
NA19084.hp2
 intron_variant MODIFIER c.54+195C>T
c.54+195C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57228132
chr3:57228186 G
G
 A
A
 2 a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0198
a0001c0001t0004g0199
 2 HG02622.hp2
HG02717.hp2
HG02622.hp2
HG02717.hp2
 intron_variant MODIFIER c.54+249G>A
c.54+249G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57228186
chr3:57228627 G
G
 T
T
 17 a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
others(14): Show 
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0014g0029
 22 HG01167.hp2
HG01169.hp2
HG01891.hp1
others(19): Show 
HG01167.hp2
HG01169.hp2
HG01891.hp1
HG01891.hp2
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02818.hp2
HG02895.hp2
HG02897.hp2
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03209.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
NA18522.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.54+690G>T
c.54+690G>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57228627
chr3:57228798 T
T
 C
C
 1 a0001c0001t0012g0032
a0001c0001t0012g0032
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.54+861T>C
c.54+861T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57228798
chr3:57229184 G
G
 A
A
 1 a0001c0001t0001g0033
a0001c0001t0001g0033
 1 HG01361.hp1
HG01361.hp1
 intron_variant MODIFIER c.54+1247G>A
c.54+1247G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57229184
chr3:57229366 G
G
 C
C
 72 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
others(69): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0011g0011
a0001c0001t0011g0012
a0001c0001t0021g0034
a0001c0001t0026g0048
a0002c0002t0003g0056
a0004c0005t0001g0018
a0006c0008t0001g0089
 96 HG00099.hp2
HG00280.hp1
HG00544.hp2
others(93): Show 
HG00099.hp2
HG00280.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01071.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01928.hp2
HG01934.hp2
HG01981.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02132.hp1
HG02135.hp2
HG02148.hp2
HG02559.hp2
HG02698.hp2
HG02735.hp2
HG02818.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp2
HG03492.hp1
HG03654.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA19005.hp2
NA19007.hp1
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19079.hp2
NA19084.hp1
NA19090.hp1
NA19090.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.54+1429G>C
c.54+1429G>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57229366
chr3:57229394 A
A
 G
G
 1 a0006c0008t0001g0089
a0006c0008t0001g0089
 1 NA19090.hp2
NA19090.hp2
 intron_variant MODIFIER c.54+1457A>G
c.54+1457A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57229394
chr3:57229433 C
C
 T
T
 3 a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0023g0195
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0023g0195
 4 HG01934.hp1
HG02615.hp1
HG02886.hp2
others(1): Show 
HG01934.hp1
HG02615.hp1
HG02886.hp2
HG03130.hp2
 intron_variant MODIFIER c.54+1496C>T
c.54+1496C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57229433
chr3:57229699 C
C
 CT
CT
 51 a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0068
others(48): Show 
a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0181
a0001c0001t0002g0027
a0001c0001t0002g0160
a0001c0001t0002g0163
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0170
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0173
a0001c0001t0002g0174
a0001c0001t0002g0175
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0178
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0002g0196
a0001c0001t0003g0162
a0001c0001t0003g0169
a0001c0001t0005g0167
a0001c0001t0005g0168
a0001c0001t0012g0032
a0001c0001t0018g0164
a0001c0004t0009g0183
a0002c0002t0003g0161
a0003c0003t0004g0184
a0005c0007t0002g0197
 53 HG00642.hp1
HG00642.hp2
HG00735.hp1
others(50): Show 
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01109.hp2
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01928.hp2
HG01981.hp1
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02135.hp2
HG02258.hp2
HG02717.hp1
HG02970.hp2
HG03017.hp2
HG03098.hp2
HG03486.hp1
HG03492.hp2
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18906.hp2
NA18943.hp2
NA18947.hp2
NA18968.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA19005.hp1
NA19005.hp2
NA19066.hp1
NA19066.hp2
NA19079.hp2
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.54+1790dupT
c.54+1790dupT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 INFO_REALIGN_3_PRIME chr3 57229699
chr3:57229699 C
C
 CTT
CTT
 8 a0001c0001t0001g0088
a0001c0001t0015g0185
a0001c0001t0015g0188
others(5): Show 
a0001c0001t0001g0088
a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0001t0024g0187
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0007c0010t0004g0189
 8 HG01433.hp1
HG02109.hp2
HG02486.hp1
others(5): Show 
HG01433.hp1
HG02109.hp2
HG02486.hp1
HG02630.hp1
HG02886.hp1
HG02922.hp1
HG03453.hp1
HG03516.hp1
 intron_variant MODIFIER c.54+1789_54+1790dup
others(2): Show 
c.54+1789_54+1790dupTT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 INFO_REALIGN_3_PRIME chr3 57229699
chr3:57229699 C
C
 CTTT
CTTT
 11 a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0199
others(8): Show 
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0199
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0025g0192
a0003c0003t0004g0193
 13 HG01167.hp2
HG01169.hp2
HG02559.hp1
others(10): Show 
HG01167.hp2
HG01169.hp2
HG02559.hp1
HG02647.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02897.hp2
HG03041.hp2
HG03139.hp1
HG03540.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.54+1788_54+1790dup
others(3): Show 
c.54+1788_54+1790dupTTT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 INFO_REALIGN_3_PRIME chr3 57229699
chr3:57229699 CTTTTTTT
others(6): Show 
CTTTTTTTTTTTTT
 C
C
 5 a0001c0001t0004g0010
a0001c0001t0004g0200
a0001c0001t0004g0201
others(2): Show 
a0001c0001t0004g0010
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0014g0029
 8 HG01891.hp1
HG01891.hp2
HG02630.hp2
others(5): Show 
HG01891.hp1
HG01891.hp2
HG02630.hp2
HG02965.hp1
HG03098.hp1
HG03209.hp2
HG03471.hp2
NA20129.hp2
 intron_variant MODIFIER c.54+1778_54+1790del
others(13): Show 
c.54+1778_54+1790delTTTTTTTTTTTTT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 INFO_REALIGN_3_PRIME chr3 57229699
chr3:57229724 T
T
 G
G
 2 a0001c0001t0002g0090
a0001c0001t0020g0091
a0001c0001t0002g0090
a0001c0001t0020g0091
 2 HG02486.hp2
HG02809.hp1
HG02486.hp2
HG02809.hp1
 intron_variant MODIFIER c.54+1787T>G
c.54+1787T>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57229724
chr3:57230041 A
A
 C
C
 31 a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
others(28): Show 
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0014g0029
a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0001t0023g0195
a0001c0001t0024g0187
a0001c0001t0025g0192
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
a0007c0010t0004g0189
 37 HG01167.hp2
HG01169.hp2
HG01891.hp1
others(34): Show 
HG01167.hp2
HG01169.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02109.hp2
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp1
NA18522.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.54+2104A>C
c.54+2104A>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57230041
chr3:57230229 CT
CT
 C
C
 31 a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
others(28): Show 
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0014g0029
a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0001t0023g0195
a0001c0001t0024g0187
a0001c0001t0025g0192
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
a0007c0010t0004g0189
 37 HG01167.hp2
HG01169.hp2
HG01891.hp1
others(34): Show 
HG01167.hp2
HG01169.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02109.hp2
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp1
NA18522.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.54+2295delT
c.54+2295delT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 INFO_REALIGN_3_PRIME chr3 57230229
chr3:57230314 C
C
 G
G
 5 a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
others(2): Show 
a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
a0001c0004t0013g0155
a0001c0004t0013g0158
 5 HG01109.hp1
HG02451.hp1
HG02717.hp1
others(2): Show 
HG01109.hp1
HG02451.hp1
HG02717.hp1
HG02976.hp1
HG03579.hp2
 intron_variant MODIFIER c.54+2377C>G
c.54+2377C>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57230314
chr3:57230742 G
G
 A
A
 31 a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
others(28): Show 
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0014g0029
a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0001t0023g0195
a0001c0001t0024g0187
a0001c0001t0025g0192
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
a0007c0010t0004g0189
 37 HG01167.hp2
HG01169.hp2
HG01891.hp1
others(34): Show 
HG01167.hp2
HG01169.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02109.hp2
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp1
NA18522.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.54+2805G>A
c.54+2805G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57230742
chr3:57230844 T
T
 A
A
 31 a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
others(28): Show 
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0014g0029
a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0001t0023g0195
a0001c0001t0024g0187
a0001c0001t0025g0192
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
a0007c0010t0004g0189
 37 HG01167.hp2
HG01169.hp2
HG01891.hp1
others(34): Show 
HG01167.hp2
HG01169.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02109.hp2
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp1
NA18522.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.54+2907T>A
c.54+2907T>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57230844
chr3:57230844 T
T
 C
C
 79 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
others(76): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0011g0011
a0001c0001t0011g0012
a0001c0001t0012g0032
a0001c0001t0012g0092
a0001c0001t0021g0034
a0001c0001t0026g0048
a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
a0001c0004t0013g0155
a0001c0004t0013g0158
a0002c0002t0003g0056
a0004c0005t0001g0018
a0006c0008t0001g0089
 103 HG00099.hp2
HG00280.hp1
HG00544.hp2
others(100): Show 
HG00099.hp2
HG00280.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01071.hp1
HG01109.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01928.hp2
HG01934.hp2
HG01981.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02132.hp1
HG02135.hp2
HG02148.hp2
HG02451.hp1
HG02559.hp2
HG02698.hp2
HG02717.hp1
HG02735.hp2
HG02818.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03492.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA19005.hp2
NA19007.hp1
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19079.hp2
NA19084.hp1
NA19090.hp1
NA19090.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.54+2907T>C
c.54+2907T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57230844
chr3:57230853 A
A
 T
T
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 NA19066.hp1
NA19066.hp1
 intron_variant MODIFIER c.54+2916A>T
c.54+2916A>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57230853
chr3:57230880 C
C
 T
T
 1 a0001c0001t0004g0198
a0001c0001t0004g0198
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.54+2943C>T
c.54+2943C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57230880
chr3:57230992 G
G
 A
A
 1 a0001c0001t0002g0093
a0001c0001t0002g0093
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.54+3055G>A
c.54+3055G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57230992
chr3:57231000 T
T
 C
C
 1 a0001c0001t0006g0205
a0001c0001t0006g0205
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.54+3063T>C
c.54+3063T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57231000
chr3:57231103 G
G
 A
A
 5 a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
others(2): Show 
a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
a0001c0004t0013g0155
a0001c0004t0013g0158
 5 HG01109.hp1
HG02451.hp1
HG02717.hp1
others(2): Show 
HG01109.hp1
HG02451.hp1
HG02717.hp1
HG02976.hp1
HG03579.hp2
 intron_variant MODIFIER c.54+3166G>A
c.54+3166G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57231103
chr3:57231199 C
C
 T
T
 1 a0001c0001t0001g0067
a0001c0001t0001g0067
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.54+3262C>T
c.54+3262C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57231199
chr3:57231287 C
C
 T
T
 2 a0001c0001t0002g0154
a0001c0001t0002g0182
a0001c0001t0002g0154
a0001c0001t0002g0182
 2 HG01257.hp2
HG02735.hp1
HG01257.hp2
HG02735.hp1
 intron_variant MODIFIER c.54+3350C>T
c.54+3350C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57231287
chr3:57231312 C
C
 A
A
 5 a0001c0001t0004g0010
a0001c0001t0004g0200
a0001c0001t0004g0201
others(2): Show 
a0001c0001t0004g0010
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0014g0029
 8 HG01891.hp1
HG01891.hp2
HG02630.hp2
others(5): Show 
HG01891.hp1
HG01891.hp2
HG02630.hp2
HG02965.hp1
HG03098.hp1
HG03209.hp2
HG03471.hp2
NA20129.hp2
 intron_variant MODIFIER c.54+3375C>A
c.54+3375C>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57231312
chr3:57231338 C
C
 CA
CA
 70 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
others(67): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0003g0095
a0001c0001t0007g0020
a0001c0001t0011g0011
a0001c0001t0011g0012
a0001c0001t0012g0032
a0001c0001t0012g0092
a0001c0001t0021g0034
a0001c0001t0026g0048
a0002c0002t0003g0056
a0002c0002t0003g0094
a0006c0008t0001g0089
 92 HG00099.hp2
HG00280.hp1
HG00544.hp2
others(89): Show 
HG00099.hp2
HG00280.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01071.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01928.hp2
HG01934.hp2
HG01981.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02132.hp1
HG02135.hp2
HG02148.hp2
HG02698.hp2
HG02735.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG03017.hp2
HG03453.hp2
HG03492.hp1
HG03516.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18940.hp1
NA18943.hp1
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18982.hp1
NA18988.hp1
NA18988.hp2
NA19005.hp2
NA19007.hp1
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19079.hp2
NA19084.hp1
NA19090.hp1
NA19090.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.54+3422dupA
c.54+3422dupA
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 INFO_REALIGN_3_PRIME chr3 57231338
chr3:57231338 CA
CA
 C
C
 55 a0001c0001t0001g0006
a0001c0001t0001g0181
a0001c0001t0002g0006
others(52): Show 
a0001c0001t0001g0006
a0001c0001t0001g0181
a0001c0001t0002g0006
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0027
a0001c0001t0002g0093
a0001c0001t0002g0128
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0142
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0146
a0001c0001t0002g0147
a0001c0001t0002g0148
a0001c0001t0002g0149
a0001c0001t0002g0150
a0001c0001t0002g0151
a0001c0001t0002g0152
a0001c0001t0002g0153
a0001c0001t0002g0154
a0001c0001t0002g0170
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0173
a0001c0001t0002g0174
a0001c0001t0002g0175
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0178
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0002g0196
a0001c0001t0003g0127
a0001c0001t0003g0129
a0001c0001t0024g0187
a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
a0001c0004t0013g0155
a0001c0004t0013g0158
a0001c0011t0002g0132
a0005c0007t0002g0197
 60 HG00099.hp1
HG00544.hp1
HG00609.hp2
others(57): Show 
HG00099.hp1
HG00544.hp1
HG00609.hp2
HG00642.hp2
HG00735.hp1
HG00741.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp2
HG01257.hp2
HG01346.hp1
HG01361.hp2
HG01496.hp2
HG01516.hp2
HG01928.hp1
HG01981.hp2
HG02055.hp2
HG02132.hp2
HG02135.hp1
HG02258.hp2
HG02451.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02735.hp1
HG02976.hp1
HG02976.hp2
HG03195.hp2
HG03239.hp1
HG03453.hp1
HG03492.hp2
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03834.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp2
NA18942.hp2
NA18943.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18986.hp1
NA19005.hp1
NA19007.hp2
NA19043.hp1
NA19064.hp1
NA19066.hp2
NA19084.hp2
NA20752.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.54+3422delA
c.54+3422delA
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 INFO_REALIGN_3_PRIME chr3 57231338
chr3:57231359 A
A
 G
G
 29 a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
others(26): Show 
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0014g0029
a0001c0001t0015g0188
a0001c0001t0023g0195
a0001c0001t0025g0192
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
a0007c0010t0004g0189
 35 HG01167.hp2
HG01169.hp2
HG01891.hp1
others(32): Show 
HG01167.hp2
HG01169.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02109.hp2
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
NA18522.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.54+3422A>G
c.54+3422A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57231359
chr3:57231360 G
G
 A
A
 29 a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
others(26): Show 
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0014g0029
a0001c0001t0015g0188
a0001c0001t0023g0195
a0001c0001t0025g0192
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
a0007c0010t0004g0189
 35 HG01167.hp2
HG01169.hp2
HG01891.hp1
others(32): Show 
HG01167.hp2
HG01169.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02109.hp2
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
NA18522.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.54+3423G>A
c.54+3423G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57231360
chr3:57231364 A
A
 T
T
 28 a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
others(25): Show 
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0014g0029
a0001c0001t0015g0188
a0001c0001t0023g0195
a0001c0001t0025g0192
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
a0007c0010t0004g0189
 34 HG01167.hp2
HG01169.hp2
HG01891.hp1
others(31): Show 
HG01167.hp2
HG01169.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
NA18522.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.54+3427A>T
c.54+3427A>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57231364
chr3:57231553 A
A
 C
C
 2 a0001c0001t0001g0062
a0001c0001t0001g0085
a0001c0001t0001g0062
a0001c0001t0001g0085
 2 HG02080.hp2
HG02135.hp2
HG02080.hp2
HG02135.hp2
 intron_variant MODIFIER c.54+3616A>C
c.54+3616A>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57231553
chr3:57231750 G
G
 T
T
 1 a0001c0001t0001g0062
a0001c0001t0001g0062
 1 HG02080.hp2
HG02080.hp2
 intron_variant MODIFIER c.54+3813G>T
c.54+3813G>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57231750
chr3:57231752 G
G
 A
A
 2 a0001c0001t0001g0063
a0001c0001t0001g0086
a0001c0001t0001g0063
a0001c0001t0001g0086
 2 HG02818.hp1
HG02970.hp2
HG02818.hp1
HG02970.hp2
 intron_variant MODIFIER c.55-3814G>A
c.55-3814G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57231752
chr3:57231809 T
T
 TA
TA
 19 a0001c0001t0001g0068
a0001c0001t0004g0010
a0001c0001t0004g0030
others(16): Show 
a0001c0001t0001g0068
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0006g0203
a0001c0001t0006g0209
a0001c0001t0012g0032
a0001c0001t0012g0092
a0001c0001t0014g0029
a0001c0001t0021g0034
 24 HG00639.hp1
HG01123.hp2
HG01167.hp2
others(21): Show 
HG00639.hp1
HG01123.hp2
HG01167.hp2
HG01169.hp2
HG01891.hp1
HG01891.hp2
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02818.hp2
HG02895.hp2
HG02897.hp2
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03669.hp1
NA18978.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.55-3740dupA
c.55-3740dupA
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 INFO_REALIGN_3_PRIME chr3 57231809
chr3:57231809 TA
TA
 T
T
 8 a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0002g0153
others(5): Show 
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0002g0153
a0001c0001t0003g0024
a0001c0001t0003g0126
a0001c0001t0003g0169
a0001c0001t0022g0024
a0002c0002t0003g0125
 8 HG01243.hp2
HG01256.hp1
HG01515.hp2
others(5): Show 
HG01243.hp2
HG01256.hp1
HG01515.hp2
HG03139.hp2
HG03239.hp1
HG03579.hp1
NA18906.hp2
NA18962.hp2
 intron_variant MODIFIER c.55-3740delA
c.55-3740delA
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 INFO_REALIGN_3_PRIME chr3 57231809
chr3:57231891 G
G
 A
A
 5 a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
others(2): Show 
a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
a0001c0004t0013g0155
a0001c0004t0013g0158
 5 HG01109.hp1
HG02451.hp1
HG02717.hp1
others(2): Show 
HG01109.hp1
HG02451.hp1
HG02717.hp1
HG02976.hp1
HG03579.hp2
 intron_variant MODIFIER c.55-3675G>A
c.55-3675G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57231891
chr3:57231897 A
A
 G
G
 17 a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
others(14): Show 
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0014g0029
 22 HG01167.hp2
HG01169.hp2
HG01891.hp1
others(19): Show 
HG01167.hp2
HG01169.hp2
HG01891.hp1
HG01891.hp2
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02818.hp2
HG02895.hp2
HG02897.hp2
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03209.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
NA18522.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.55-3669A>G
c.55-3669A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57231897
chr3:57232044 T
T
 C
C
 31 a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
others(28): Show 
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0014g0029
a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0001t0023g0195
a0001c0001t0024g0187
a0001c0001t0025g0192
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
a0007c0010t0004g0189
 37 HG01167.hp2
HG01169.hp2
HG01891.hp1
others(34): Show 
HG01167.hp2
HG01169.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02109.hp2
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp1
NA18522.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.55-3522T>C
c.55-3522T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57232044
chr3:57232159 G
G
 A
A
 198 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0006
others(195): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0181
a0001c0001t0002g0006
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0027
a0001c0001t0002g0090
a0001c0001t0002g0093
a0001c0001t0002g0103
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0128
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0142
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0146
a0001c0001t0002g0147
a0001c0001t0002g0148
a0001c0001t0002g0149
a0001c0001t0002g0150
a0001c0001t0002g0151
a0001c0001t0002g0152
a0001c0001t0002g0153
a0001c0001t0002g0154
a0001c0001t0002g0160
a0001c0001t0002g0163
a0001c0001t0002g0170
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0173
a0001c0001t0002g0174
a0001c0001t0002g0175
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0178
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0002g0196
a0001c0001t0003g0002
a0001c0001t0003g0022
a0001c0001t0003g0024
a0001c0001t0003g0095
a0001c0001t0003g0096
a0001c0001t0003g0097
a0001c0001t0003g0099
a0001c0001t0003g0102
a0001c0001t0003g0107
a0001c0001t0003g0109
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0129
a0001c0001t0003g0162
a0001c0001t0003g0169
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0007g0020
a0001c0001t0007g0110
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0011g0011
a0001c0001t0011g0012
a0001c0001t0012g0032
a0001c0001t0012g0092
a0001c0001t0014g0029
a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0001t0019g0104
a0001c0001t0020g0091
a0001c0001t0021g0034
a0001c0001t0022g0024
a0001c0001t0023g0195
a0001c0001t0024g0187
a0001c0001t0025g0192
a0001c0001t0026g0048
a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
a0001c0004t0013g0155
a0001c0004t0013g0158
a0001c0009t0002g0100
a0001c0011t0002g0132
a0002c0002t0003g0004
a0002c0002t0003g0005
a0002c0002t0003g0021
a0002c0002t0003g0056
a0002c0002t0003g0094
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0111
a0002c0002t0003g0125
a0002c0002t0003g0161
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
a0004c0005t0001g0018
a0005c0007t0002g0197
a0006c0008t0001g0089
a0007c0010t0004g0189
 247 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(244): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19084.hp1
NA19084.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.55-3407G>A
c.55-3407G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57232159
chr3:57232276 C
C
 G
G
 2 a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0198
a0001c0001t0004g0199
 2 HG02622.hp2
HG02717.hp2
HG02622.hp2
HG02717.hp2
 intron_variant MODIFIER c.55-3290C>G
c.55-3290C>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57232276
chr3:57232309 G
G
 A
A
 1 a0001c0001t0001g0035
a0001c0001t0001g0035
 1 NA18988.hp2
NA18988.hp2
 intron_variant MODIFIER c.55-3257G>A
c.55-3257G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57232309
chr3:57232352 A
A
 G
G
 2 a0001c0001t0012g0032
a0001c0001t0012g0092
a0001c0001t0012g0032
a0001c0001t0012g0092
 2 HG00639.hp1
HG03669.hp1
HG00639.hp1
HG03669.hp1
 intron_variant MODIFIER c.55-3214A>G
c.55-3214A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57232352
chr3:57232416 T
T
 G
G
 5 a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0069
others(2): Show 
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0069
a0001c0001t0011g0011
a0001c0001t0011g0012
 5 HG01168.hp1
HG01169.hp1
HG01257.hp1
others(2): Show 
HG01168.hp1
HG01169.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
 intron_variant MODIFIER c.55-3150T>G
c.55-3150T>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57232416
chr3:57232447 A
A
 T
T
 1 a0001c0001t0002g0163
a0001c0001t0002g0163
 1 HG01109.hp2
HG01109.hp2
 intron_variant MODIFIER c.55-3119A>T
c.55-3119A>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57232447
chr3:57232666 T
T
 C
C
 1 a0001c0001t0001g0036
a0001c0001t0001g0036
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.55-2900T>C
c.55-2900T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57232666
chr3:57232745 G
G
 A
A
 1 a0001c0001t0003g0127
a0001c0001t0003g0127
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.55-2821G>A
c.55-2821G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57232745
chr3:57232805 A
A
 G
G
 31 a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
others(28): Show 
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0014g0029
a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0001t0023g0195
a0001c0001t0024g0187
a0001c0001t0025g0192
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
a0007c0010t0004g0189
 37 HG01167.hp2
HG01169.hp2
HG01891.hp1
others(34): Show 
HG01167.hp2
HG01169.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02109.hp2
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp1
NA18522.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.55-2761A>G
c.55-2761A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57232805
chr3:57232939 G
G
 A
A
 2 a0001c0001t0008g0116
a0001c0001t0008g0117
a0001c0001t0008g0116
a0001c0001t0008g0117
 2 HG02280.hp1
HG02970.hp1
HG02280.hp1
HG02970.hp1
 intron_variant MODIFIER c.55-2627G>A
c.55-2627G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57232939
chr3:57232981 G
G
 A
A
 3 a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0023g0195
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0023g0195
 4 HG01934.hp1
HG02615.hp1
HG02886.hp2
others(1): Show 
HG01934.hp1
HG02615.hp1
HG02886.hp2
HG03130.hp2
 intron_variant MODIFIER c.55-2585G>A
c.55-2585G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57232981
chr3:57233480 T
T
 C
C
 2 a0001c0001t0003g0096
a0001c0001t0003g0097
a0001c0001t0003g0096
a0001c0001t0003g0097
 2 HG02895.hp1
HG02896.hp1
HG02895.hp1
HG02896.hp1
 intron_variant MODIFIER c.55-2086T>C
c.55-2086T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57233480
chr3:57233540 C
C
 G
G
 68 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
others(65): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0011g0011
a0001c0001t0011g0012
a0001c0001t0021g0034
a0001c0001t0026g0048
a0002c0002t0003g0056
a0004c0005t0001g0018
a0006c0008t0001g0089
 91 HG00099.hp2
HG00280.hp1
HG00609.hp1
others(88): Show 
HG00099.hp2
HG00280.hp1
HG00609.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01071.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01928.hp2
HG01934.hp2
HG01981.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02135.hp2
HG02148.hp2
HG02559.hp2
HG02698.hp2
HG02735.hp2
HG02818.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp2
HG03492.hp1
HG03654.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18940.hp1
NA18942.hp1
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA19005.hp2
NA19007.hp1
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19079.hp2
NA19084.hp1
NA19090.hp1
NA19090.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.55-2026C>G
c.55-2026C>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57233540
chr3:57233678 G
G
 T
T
 5 a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
others(2): Show 
a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
a0001c0004t0013g0155
a0001c0004t0013g0158
 5 HG01109.hp1
HG02451.hp1
HG02717.hp1
others(2): Show 
HG01109.hp1
HG02451.hp1
HG02717.hp1
HG02976.hp1
HG03579.hp2
 intron_variant MODIFIER c.55-1888G>T
c.55-1888G>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57233678
chr3:57233838 T
T
 A
A
 1 a0001c0001t0025g0192
a0001c0001t0025g0192
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.55-1728T>A
c.55-1728T>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57233838
chr3:57233980 A
A
 G
G
 31 a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
others(28): Show 
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0014g0029
a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0001t0023g0195
a0001c0001t0024g0187
a0001c0001t0025g0192
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
a0007c0010t0004g0189
 37 HG01167.hp2
HG01169.hp2
HG01891.hp1
others(34): Show 
HG01167.hp2
HG01169.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02109.hp2
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp1
NA18522.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.55-1586A>G
c.55-1586A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57233980
chr3:57234296 C
C
 CT
CT
 12 a0001c0001t0001g0059
a0001c0001t0001g0066
a0001c0001t0001g0069
others(9): Show 
a0001c0001t0001g0059
a0001c0001t0001g0066
a0001c0001t0001g0069
a0001c0001t0001g0084
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0163
a0001c0001t0003g0162
a0001c0001t0008g0117
a0001c0001t0012g0032
a0001c0001t0012g0092
a0001c0001t0025g0192
 12 HG00639.hp1
HG01109.hp2
HG01261.hp1
others(9): Show 
HG00639.hp1
HG01109.hp2
HG01261.hp1
HG02148.hp2
HG02559.hp1
HG02970.hp1
HG03041.hp1
HG03098.hp2
HG03669.hp1
NA18978.hp2
NA18979.hp1
NA19078.hp2
 intron_variant MODIFIER c.55-1251dupT
c.55-1251dupT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 INFO_REALIGN_3_PRIME chr3 57234296
chr3:57234296 C
C
 CTT
CTT
 20 a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
others(17): Show 
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0014g0029
a0001c0001t0015g0188
a0001c0001t0023g0195
a0007c0010t0004g0189
 26 HG01167.hp2
HG01169.hp2
HG01891.hp1
others(23): Show 
HG01167.hp2
HG01169.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02486.hp1
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03471.hp2
HG03540.hp1
NA18522.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.55-1252_55-1251dup
others(2): Show 
c.55-1252_55-1251dupTT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 INFO_REALIGN_3_PRIME chr3 57234296
chr3:57234296 C
C
 CTTT
CTTT
 10 a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0015g0185
others(7): Show 
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0015g0185
a0001c0001t0024g0187
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
 10 HG02109.hp2
HG02809.hp2
HG02886.hp1
others(7): Show 
HG02109.hp2
HG02809.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp1
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp1
NA20129.hp1
 intron_variant MODIFIER c.55-1253_55-1251dup
others(3): Show 
c.55-1253_55-1251dupTTT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 INFO_REALIGN_3_PRIME chr3 57234296
chr3:57234320 C
C
 T
T
 4 a0001c0001t0008g0116
a0001c0001t0008g0117
a0001c0001t0008g0124
others(1): Show 
a0001c0001t0008g0116
a0001c0001t0008g0117
a0001c0001t0008g0124
a0001c0001t0017g0123
 4 HG02280.hp1
HG02647.hp1
HG02970.hp1
others(1): Show 
HG02280.hp1
HG02647.hp1
HG02970.hp1
HG06807.hp1
 intron_variant MODIFIER c.55-1246C>T
c.55-1246C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57234320
chr3:57234353 G
G
 A
A
 106 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
others(103): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0011g0011
a0001c0001t0011g0012
a0001c0001t0012g0032
a0001c0001t0012g0092
a0001c0001t0014g0029
a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0001t0021g0034
a0001c0001t0023g0195
a0001c0001t0024g0187
a0001c0001t0025g0192
a0001c0001t0026g0048
a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
a0001c0004t0013g0155
a0001c0004t0013g0158
a0002c0002t0003g0056
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
a0004c0005t0001g0018
a0006c0008t0001g0089
a0007c0010t0004g0189
 135 HG00099.hp2
HG00280.hp1
HG00609.hp1
others(132): Show 
HG00099.hp2
HG00280.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01071.hp1
HG01109.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01981.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02135.hp2
HG02148.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18940.hp1
NA18942.hp1
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA19005.hp2
NA19007.hp1
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19079.hp2
NA19084.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.55-1213G>A
c.55-1213G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57234353
chr3:57234379 G
G
 A
A
 1 a0001c0001t0001g0039
a0001c0001t0001g0039
 1 NA19079.hp1
NA19079.hp1
 intron_variant MODIFIER c.55-1187G>A
c.55-1187G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57234379
chr3:57234446 C
C
 G
G
 5 a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
others(2): Show 
a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
a0001c0004t0013g0155
a0001c0004t0013g0158
 5 HG01109.hp1
HG02451.hp1
HG02717.hp1
others(2): Show 
HG01109.hp1
HG02451.hp1
HG02717.hp1
HG02976.hp1
HG03579.hp2
 intron_variant MODIFIER c.55-1120C>G
c.55-1120C>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57234446
chr3:57234472 G
G
 A
A
 1 a0006c0008t0001g0089
a0006c0008t0001g0089
 1 NA19090.hp2
NA19090.hp2
 intron_variant MODIFIER c.55-1094G>A
c.55-1094G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57234472
chr3:57234587 C
C
 T
T
 1 a0007c0010t0004g0189
a0007c0010t0004g0189
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.55-979C>T
c.55-979C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57234587
chr3:57234690 C
C
 T
T
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 NA19066.hp1
NA19066.hp1
 intron_variant MODIFIER c.55-876C>T
c.55-876C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57234690
chr3:57234718 T
T
 G
G
 2 a0001c0001t0001g0040
a0001c0001t0001g0070
a0001c0001t0001g0040
a0001c0001t0001g0070
 2 HG01928.hp2
HG01993.hp2
HG01928.hp2
HG01993.hp2
 intron_variant MODIFIER c.55-848T>G
c.55-848T>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57234718
chr3:57234854 A
A
 T
T
 1 a0001c0004t0013g0158
a0001c0004t0013g0158
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.55-712A>T
c.55-712A>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57234854
chr3:57234951 G
G
 A
A
 31 a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
others(28): Show 
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0014g0029
a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0001t0023g0195
a0001c0001t0024g0187
a0001c0001t0025g0192
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
a0007c0010t0004g0189
 37 HG01167.hp2
HG01169.hp2
HG01891.hp1
others(34): Show 
HG01167.hp2
HG01169.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02109.hp2
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp1
NA18522.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.55-615G>A
c.55-615G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57234951
chr3:57235300 G
G
 C
C
 2 a0001c0001t0012g0032
a0001c0001t0012g0092
a0001c0001t0012g0032
a0001c0001t0012g0092
 2 HG00639.hp1
HG03669.hp1
HG00639.hp1
HG03669.hp1
 intron_variant MODIFIER c.55-266G>C
c.55-266G>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 chr3 57235300
chr3:57235441 ATAGAT
ATAGAT
 A
A
 5 a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
others(2): Show 
a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
a0001c0004t0013g0155
a0001c0004t0013g0158
 5 HG01109.hp1
HG02451.hp1
HG02717.hp1
others(2): Show 
HG01109.hp1
HG02451.hp1
HG02717.hp1
HG02976.hp1
HG03579.hp2
 intron_variant MODIFIER c.55-122_55-118delGA
others(3): Show 
c.55-122_55-118delGATTA
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 1/21 INFO_REALIGN_3_PRIME chr3 57235441
chr3:57235778 T
T
 A
A
 1 a0002c0002t0003g0098
a0002c0002t0003g0098
 1 HG01993.hp1
HG01993.hp1
 intron_variant MODIFIER c.153+114T>A
c.153+114T>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 2/21 chr3 57235778
chr3:57235825 A
A
 G
G
 1 a0001c0001t0001g0036
a0001c0001t0001g0036
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.153+161A>G
c.153+161A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 2/21 chr3 57235825
chr3:57236044 C
C
 CT
CT
 46 a0001c0001t0001g0006
a0001c0001t0001g0181
a0001c0001t0002g0006
others(43): Show 
a0001c0001t0001g0006
a0001c0001t0001g0181
a0001c0001t0002g0006
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0027
a0001c0001t0002g0093
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0115
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0142
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0146
a0001c0001t0002g0147
a0001c0001t0002g0148
a0001c0001t0002g0149
a0001c0001t0002g0150
a0001c0001t0002g0151
a0001c0001t0002g0152
a0001c0001t0002g0153
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0173
a0001c0001t0002g0174
a0001c0001t0002g0175
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0178
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0196
a0001c0011t0002g0132
a0005c0007t0002g0197
 51 HG00099.hp1
HG00544.hp1
HG00609.hp2
others(48): Show 
HG00099.hp1
HG00544.hp1
HG00609.hp2
HG00642.hp2
HG00735.hp1
HG00741.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01123.hp1
HG01168.hp2
HG01346.hp1
HG01361.hp2
HG01496.hp2
HG01516.hp2
HG01928.hp1
HG01981.hp2
HG02055.hp2
HG02132.hp2
HG02135.hp1
HG02683.hp1
HG02698.hp1
HG03195.hp2
HG03239.hp1
HG03492.hp2
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03834.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18986.hp1
NA19005.hp1
NA19007.hp2
NA19064.hp1
NA19066.hp2
NA19078.hp2
NA19084.hp2
NA20752.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.153+397dupT
c.153+397dupT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 2/21 INFO_REALIGN_3_PRIME chr3 57236044
chr3:57236044 CT
CT
 C
C
 105 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
others(102): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0011g0011
a0001c0001t0011g0012
a0001c0001t0012g0032
a0001c0001t0012g0092
a0001c0001t0014g0029
a0001c0001t0021g0034
a0001c0001t0023g0195
a0001c0001t0024g0187
a0001c0001t0025g0192
a0001c0001t0026g0048
a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
a0001c0004t0013g0155
a0001c0004t0013g0158
a0002c0002t0003g0056
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
a0004c0005t0001g0018
a0006c0008t0001g0089
a0007c0010t0004g0189
 135 HG00099.hp2
HG00280.hp1
HG00544.hp2
others(132): Show 
HG00099.hp2
HG00280.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01109.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01981.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02132.hp1
HG02135.hp2
HG02148.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03492.hp1
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18981.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA19005.hp2
NA19007.hp1
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19079.hp2
NA19084.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.153+397delT
c.153+397delT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 2/21 INFO_REALIGN_3_PRIME chr3 57236044
chr3:57236176 C
C
 T
T
 1 a0001c0001t0001g0086
a0001c0001t0001g0086
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.153+512C>T
c.153+512C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 2/21 chr3 57236176
chr3:57236185 C
C
 T
T
 1 a0001c0001t0015g0188
a0001c0001t0015g0188
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.153+521C>T
c.153+521C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 2/21 chr3 57236185
chr3:57236271 C
C
 T
T
 2 a0001c0001t0001g0063
a0001c0001t0001g0086
a0001c0001t0001g0063
a0001c0001t0001g0086
 2 HG02818.hp1
HG02970.hp2
HG02818.hp1
HG02970.hp2
 intron_variant MODIFIER c.153+607C>T
c.153+607C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 2/21 chr3 57236271
chr3:57236330 CT
CT
 C
C
 6 a0001c0001t0003g0099
a0001c0004t0009g0156
a0001c0004t0009g0157
others(3): Show 
a0001c0001t0003g0099
a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
a0001c0004t0013g0155
a0001c0004t0013g0158
 6 HG01109.hp1
HG02280.hp2
HG02451.hp1
others(3): Show 
HG01109.hp1
HG02280.hp2
HG02451.hp1
HG02717.hp1
HG02976.hp1
HG03579.hp2
 intron_variant MODIFIER c.153+680delT
c.153+680delT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 2/21 INFO_REALIGN_3_PRIME chr3 57236330
chr3:57236331 T
T
 C
C
 1 a0001c0001t0012g0092
a0001c0001t0012g0092
 1 HG00639.hp1
HG00639.hp1
 intron_variant MODIFIER c.153+667T>C
c.153+667T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 2/21 chr3 57236331
chr3:57236350 T
T
 C
C
 2 a0001c0001t0012g0032
a0001c0001t0012g0092
a0001c0001t0012g0032
a0001c0001t0012g0092
 2 HG00639.hp1
HG03669.hp1
HG00639.hp1
HG03669.hp1
 intron_variant MODIFIER c.153+686T>C
c.153+686T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 2/21 chr3 57236350
chr3:57236393 A
A
 G
G
 2 a0001c0001t0003g0095
a0001c0001t0004g0200
a0001c0001t0003g0095
a0001c0001t0004g0200
 2 HG01891.hp1
HG03516.hp2
HG01891.hp1
HG03516.hp2
 intron_variant MODIFIER c.153+729A>G
c.153+729A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 2/21 chr3 57236393
chr3:57236399 G
G
 A
A
 3 a0001c0001t0001g0063
a0001c0001t0001g0086
a0004c0005t0001g0018
a0001c0001t0001g0063
a0001c0001t0001g0086
a0004c0005t0001g0018
 4 HG02559.hp2
HG02818.hp1
HG02965.hp2
others(1): Show 
HG02559.hp2
HG02818.hp1
HG02965.hp2
HG02970.hp2
 intron_variant MODIFIER c.153+735G>A
c.153+735G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 2/21 chr3 57236399
chr3:57236438 T
T
 C
C
 22 a0001c0001t0002g0025
a0001c0001t0002g0112
a0001c0001t0002g0130
others(19): Show 
a0001c0001t0002g0025
a0001c0001t0002g0112
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0153
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0173
a0001c0001t0002g0174
a0001c0001t0002g0175
a0001c0001t0002g0176
a0001c0009t0002g0100
a0001c0011t0002g0132
 23 HG00099.hp1
HG00642.hp2
HG00735.hp1
others(20): Show 
HG00099.hp1
HG00642.hp2
HG00735.hp1
HG00741.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01168.hp2
HG01346.hp1
HG01358.hp1
HG01361.hp2
HG01496.hp2
HG01516.hp2
HG01928.hp1
HG01981.hp2
HG02055.hp2
HG02683.hp1
HG02698.hp1
HG03239.hp1
HG03688.hp2
HG04184.hp2
NA20752.hp2
NA20805.hp1
 intron_variant MODIFIER c.153+774T>C
c.153+774T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 2/21 chr3 57236438
chr3:57236490 A
A
 G
G
 110 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
others(107): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0011g0011
a0001c0001t0011g0012
a0001c0001t0012g0032
a0001c0001t0012g0092
a0001c0001t0014g0029
a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0001t0021g0034
a0001c0001t0023g0195
a0001c0001t0024g0187
a0001c0001t0025g0192
a0001c0001t0026g0048
a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
a0001c0004t0013g0155
a0001c0004t0013g0158
a0002c0002t0003g0056
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
a0004c0005t0001g0018
a0006c0008t0001g0089
a0007c0010t0004g0189
 140 HG00099.hp2
HG00280.hp1
HG00544.hp2
others(137): Show 
HG00099.hp2
HG00280.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01071.hp1
HG01109.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01981.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02132.hp1
HG02135.hp2
HG02148.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA19005.hp2
NA19007.hp1
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19079.hp2
NA19084.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.153+826A>G
c.153+826A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 2/21 chr3 57236490
chr3:57236575 G
G
 A
A
 1 a0001c0001t0002g0130
a0001c0001t0002g0130
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.153+911G>A
c.153+911G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 2/21 chr3 57236575
chr3:57236853 C
C
 T
T
 1 a0002c0002t0003g0111
a0002c0002t0003g0111
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.154-639C>T
c.154-639C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 2/21 chr3 57236853
chr3:57236985 C
C
 A
A
 1 a0001c0001t0002g0118
a0001c0001t0002g0118
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.154-507C>A
c.154-507C>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 2/21 chr3 57236985
chr3:57237093 G
G
 A
A
 1 a0002c0002t0003g0101
a0002c0002t0003g0101
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.154-399G>A
c.154-399G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 2/21 chr3 57237093
chr3:57237179 C
C
 T
T
 1 a0003c0003t0004g0191
a0003c0003t0004g0191
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.154-313C>T
c.154-313C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 2/21 chr3 57237179
chr3:57237885 G
G
 A
A
 3 a0001c0001t0001g0063
a0001c0001t0001g0086
a0004c0005t0001g0018
a0001c0001t0001g0063
a0001c0001t0001g0086
a0004c0005t0001g0018
 4 HG02559.hp2
HG02818.hp1
HG02965.hp2
others(1): Show 
HG02559.hp2
HG02818.hp1
HG02965.hp2
HG02970.hp2
 intron_variant MODIFIER c.214-160G>A
c.214-160G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 3/21 chr3 57237885
chr3:57238122 C
C
 T
T
 17 a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
others(14): Show 
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0014g0029
 22 HG01167.hp2
HG01169.hp2
HG01891.hp1
others(19): Show 
HG01167.hp2
HG01169.hp2
HG01891.hp1
HG01891.hp2
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02818.hp2
HG02895.hp2
HG02897.hp2
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03209.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
NA18522.hp1
NA19240.hp2
NA20129.hp2
 splice_region_variant&intron_variant LOW c.285+6C>T
c.285+6C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 4/21 chr3 57238122
chr3:57238331 C
C
 T
T
 2 a0001c0001t0007g0020
a0001c0001t0007g0110
a0001c0001t0007g0020
a0001c0001t0007g0110
 3 HG01884.hp1
HG02922.hp2
HG03453.hp2
HG01884.hp1
HG02922.hp2
HG03453.hp2
 intron_variant MODIFIER c.285+215C>T
c.285+215C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 4/21 chr3 57238331
chr3:57238369 T
T
 G
G
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 NA19066.hp1
NA19066.hp1
 intron_variant MODIFIER c.285+253T>G
c.285+253T>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 4/21 chr3 57238369
chr3:57238409 A
A
 G
G
 1 a0002c0002t0003g0094
a0002c0002t0003g0094
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.285+293A>G
c.285+293A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 4/21 chr3 57238409
chr3:57238421 T
T
 C
C
 1 a0001c0001t0003g0102
a0001c0001t0003g0102
 1 HG01099.hp2
HG01099.hp2
 intron_variant MODIFIER c.285+305T>C
c.285+305T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 4/21 chr3 57238421
chr3:57238735 C
C
 T
T
 1 a0001c0004t0009g0183
a0001c0004t0009g0183
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.285+619C>T
c.285+619C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 4/21 chr3 57238735
chr3:57238809 A
A
 G
G
 2 a0001c0001t0012g0032
a0001c0001t0012g0092
a0001c0001t0012g0032
a0001c0001t0012g0092
 2 HG00639.hp1
HG03669.hp1
HG00639.hp1
HG03669.hp1
 intron_variant MODIFIER c.285+693A>G
c.285+693A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 4/21 chr3 57238809
chr3:57238911 G
G
 A
A
 1 a0001c0001t0002g0131
a0001c0001t0002g0131
 1 HG01168.hp2
HG01168.hp2
 intron_variant MODIFIER c.285+795G>A
c.285+795G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 4/21 chr3 57238911
chr3:57238931 G
G
 C
C
 1 a0001c0001t0001g0060
a0001c0001t0001g0060
 1 NA18962.hp2
NA18962.hp2
 intron_variant MODIFIER c.285+815G>C
c.285+815G>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 4/21 chr3 57238931
chr3:57239039 G
G
 A
A
 2 a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0010g0028
a0001c0001t0010g0194
 3 HG01934.hp1
HG02615.hp1
HG02886.hp2
HG01934.hp1
HG02615.hp1
HG02886.hp2
 intron_variant MODIFIER c.285+923G>A
c.285+923G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 4/21 chr3 57239039
chr3:57239076 G
G
 A
A
 1 a0001c0001t0004g0201
a0001c0001t0004g0201
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.285+960G>A
c.285+960G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 4/21 chr3 57239076
chr3:57239077 A
A
 G
G
 1 a0001c0001t0004g0201
a0001c0001t0004g0201
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.285+961A>G
c.285+961A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 4/21 chr3 57239077
chr3:57239079 A
A
 C
C
 1 a0002c0002t0003g0101
a0002c0002t0003g0101
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.285+963A>C
c.285+963A>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 4/21 chr3 57239079
chr3:57239102 G
G
 A
A
 1 a0001c0011t0002g0132
a0001c0011t0002g0132
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.285+986G>A
c.285+986G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 4/21 chr3 57239102
chr3:57239107 T
T
 C
C
 198 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0006
others(195): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0181
a0001c0001t0002g0006
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0027
a0001c0001t0002g0090
a0001c0001t0002g0093
a0001c0001t0002g0103
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0128
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0142
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0146
a0001c0001t0002g0147
a0001c0001t0002g0148
a0001c0001t0002g0149
a0001c0001t0002g0150
a0001c0001t0002g0151
a0001c0001t0002g0152
a0001c0001t0002g0153
a0001c0001t0002g0154
a0001c0001t0002g0160
a0001c0001t0002g0163
a0001c0001t0002g0170
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0173
a0001c0001t0002g0174
a0001c0001t0002g0175
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0178
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0002g0196
a0001c0001t0003g0002
a0001c0001t0003g0022
a0001c0001t0003g0024
a0001c0001t0003g0095
a0001c0001t0003g0096
a0001c0001t0003g0097
a0001c0001t0003g0099
a0001c0001t0003g0102
a0001c0001t0003g0107
a0001c0001t0003g0109
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0129
a0001c0001t0003g0162
a0001c0001t0003g0169
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0007g0020
a0001c0001t0007g0110
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0011g0011
a0001c0001t0011g0012
a0001c0001t0012g0032
a0001c0001t0012g0092
a0001c0001t0014g0029
a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0001t0019g0104
a0001c0001t0020g0091
a0001c0001t0021g0034
a0001c0001t0022g0024
a0001c0001t0023g0195
a0001c0001t0024g0187
a0001c0001t0025g0192
a0001c0001t0026g0048
a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
a0001c0004t0013g0155
a0001c0004t0013g0158
a0001c0009t0002g0100
a0001c0011t0002g0132
a0002c0002t0003g0004
a0002c0002t0003g0005
a0002c0002t0003g0021
a0002c0002t0003g0056
a0002c0002t0003g0094
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0111
a0002c0002t0003g0125
a0002c0002t0003g0161
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
a0004c0005t0001g0018
a0005c0007t0002g0197
a0006c0008t0001g0089
a0007c0010t0004g0189
 247 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(244): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19084.hp1
NA19084.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.285+991T>C
c.285+991T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 4/21 chr3 57239107
chr3:57239200 G
G
 A
A
 2 a0001c0001t0012g0032
a0001c0001t0012g0092
a0001c0001t0012g0032
a0001c0001t0012g0092
 2 HG00639.hp1
HG03669.hp1
HG00639.hp1
HG03669.hp1
 intron_variant MODIFIER c.285+1084G>A
c.285+1084G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 4/21 chr3 57239200
chr3:57239278 C
C
 T
T
 15 a0001c0001t0003g0002
a0001c0001t0003g0022
a0001c0001t0003g0024
others(12): Show 
a0001c0001t0003g0002
a0001c0001t0003g0022
a0001c0001t0003g0024
a0001c0001t0003g0095
a0001c0001t0003g0096
a0001c0001t0003g0097
a0001c0001t0003g0099
a0001c0001t0003g0102
a0001c0001t0003g0109
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0129
a0001c0001t0003g0162
a0001c0001t0003g0169
a0001c0001t0022g0024
 21 HG01099.hp2
HG01243.hp2
HG01884.hp2
others(18): Show 
HG01099.hp2
HG01243.hp2
HG01884.hp2
HG02280.hp2
HG02451.hp2
HG02895.hp1
HG02896.hp1
HG02976.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.285+1162C>T
c.285+1162C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 4/21 chr3 57239278
chr3:57239494 G
G
 A
A
 3 a0001c0001t0004g0030
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0030
a0001c0001t0004g0206
a0001c0001t0004g0207
 4 HG01167.hp2
HG01169.hp2
HG02895.hp2
others(1): Show 
HG01167.hp2
HG01169.hp2
HG02895.hp2
HG02897.hp2
 intron_variant MODIFIER c.286-971G>A
c.286-971G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 4/21 chr3 57239494
chr3:57239783 C
C
 T
T
 3 a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0023g0195
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0023g0195
 4 HG01934.hp1
HG02615.hp1
HG02886.hp2
others(1): Show 
HG01934.hp1
HG02615.hp1
HG02886.hp2
HG03130.hp2
 intron_variant MODIFIER c.286-682C>T
c.286-682C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 4/21 chr3 57239783
chr3:57239897 G
G
 A
A
 68 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
others(65): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0011g0011
a0001c0001t0011g0012
a0001c0001t0021g0034
a0001c0001t0026g0048
a0002c0002t0003g0056
a0004c0005t0001g0018
a0006c0008t0001g0089
 91 HG00099.hp2
HG00280.hp1
HG00609.hp1
others(88): Show 
HG00099.hp2
HG00280.hp1
HG00609.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01071.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01928.hp2
HG01934.hp2
HG01981.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02135.hp2
HG02148.hp2
HG02559.hp2
HG02698.hp2
HG02735.hp2
HG02818.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp2
HG03492.hp1
HG03654.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18940.hp1
NA18942.hp1
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA19005.hp2
NA19007.hp1
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19079.hp2
NA19084.hp1
NA19090.hp1
NA19090.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.286-568G>A
c.286-568G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 4/21 chr3 57239897
chr3:57240026 C
C
 T
T
 1 a0001c0001t0002g0141
a0001c0001t0002g0141
 1 HG01516.hp2
HG01516.hp2
 intron_variant MODIFIER c.286-439C>T
c.286-439C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 4/21 chr3 57240026
chr3:57240100 A
A
 G
G
 1 a0001c0001t0002g0176
a0001c0001t0002g0176
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.286-365A>G
c.286-365A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 4/21 chr3 57240100
chr3:57240131 G
G
 GT
GT
 29 a0001c0001t0002g0115
a0001c0001t0002g0175
a0001c0001t0003g0002
others(26): Show 
a0001c0001t0002g0115
a0001c0001t0002g0175
a0001c0001t0003g0002
a0001c0001t0003g0022
a0001c0001t0003g0024
a0001c0001t0003g0095
a0001c0001t0003g0096
a0001c0001t0003g0097
a0001c0001t0003g0099
a0001c0001t0003g0102
a0001c0001t0003g0107
a0001c0001t0003g0109
a0001c0001t0003g0127
a0001c0001t0003g0129
a0001c0001t0003g0162
a0001c0001t0003g0169
a0001c0001t0022g0024
a0001c0009t0002g0100
a0002c0002t0003g0004
a0002c0002t0003g0005
a0002c0002t0003g0094
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0111
a0002c0002t0003g0125
a0002c0002t0003g0161
 41 HG00280.hp2
HG00738.hp2
HG01099.hp1
others(38): Show 
HG00280.hp2
HG00738.hp2
HG01099.hp1
HG01099.hp2
HG01192.hp2
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01884.hp2
HG01993.hp1
HG02109.hp1
HG02148.hp1
HG02280.hp2
HG02451.hp2
HG02895.hp1
HG02896.hp1
HG02976.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03239.hp2
HG03516.hp2
HG03540.hp2
HG03704.hp1
HG03831.hp1
HG04184.hp2
NA18522.hp2
NA18906.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19078.hp2
NA19240.hp1
NA20300.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-320dupT
c.286-320dupT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 4/21 INFO_REALIGN_3_PRIME chr3 57240131
chr3:57240719 T
T
 C
C
 1 a0001c0001t0025g0192
a0001c0001t0025g0192
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.373+167T>C
c.373+167T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 5/21 chr3 57240719
chr3:57240798 ACACTTAT
others(2): Show 
ACACTTATGT
 A
A
 1 a0001c0001t0005g0009
a0001c0001t0005g0009
 3 HG02258.hp1
HG02622.hp1
HG03130.hp1
HG02258.hp1
HG02622.hp1
HG03130.hp1
 intron_variant MODIFIER c.373+248_373+256del
others(9): Show 
c.373+248_373+256delACTTATGTC
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 5/21 INFO_REALIGN_3_PRIME chr3 57240798
chr3:57241117 A
A
 G
G
 110 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
others(107): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0011g0011
a0001c0001t0011g0012
a0001c0001t0012g0032
a0001c0001t0012g0092
a0001c0001t0014g0029
a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0001t0021g0034
a0001c0001t0023g0195
a0001c0001t0024g0187
a0001c0001t0025g0192
a0001c0001t0026g0048
a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
a0001c0004t0013g0155
a0001c0004t0013g0158
a0002c0002t0003g0056
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
a0004c0005t0001g0018
a0006c0008t0001g0089
a0007c0010t0004g0189
 140 HG00099.hp2
HG00280.hp1
HG00544.hp2
others(137): Show 
HG00099.hp2
HG00280.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01071.hp1
HG01109.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01981.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02132.hp1
HG02135.hp2
HG02148.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA19005.hp2
NA19007.hp1
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19079.hp2
NA19084.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.373+565A>G
c.373+565A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 5/21 chr3 57241117
chr3:57241293 T
T
 C
C
 1 a0001c0001t0001g0041
a0001c0001t0001g0041
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.373+741T>C
c.373+741T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 5/21 chr3 57241293
chr3:57241930 T
T
 A
A
 1 a0001c0001t0001g0042
a0001c0001t0001g0042
 1 HG03492.hp1
HG03492.hp1
 intron_variant MODIFIER c.374-171T>A
c.374-171T>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 5/21 chr3 57241930
chr3:57242230 GA
GA
 G
G
 68 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
others(65): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0011g0011
a0001c0001t0011g0012
a0001c0001t0021g0034
a0001c0001t0026g0048
a0002c0002t0003g0056
a0004c0005t0001g0018
a0006c0008t0001g0089
 91 HG00099.hp2
HG00280.hp1
HG00609.hp1
others(88): Show 
HG00099.hp2
HG00280.hp1
HG00609.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01071.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01928.hp2
HG01934.hp2
HG01981.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02135.hp2
HG02148.hp2
HG02559.hp2
HG02698.hp2
HG02735.hp2
HG02818.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp2
HG03492.hp1
HG03654.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18940.hp1
NA18942.hp1
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA19005.hp2
NA19007.hp1
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19079.hp2
NA19084.hp1
NA19090.hp1
NA19090.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.415+96delA
c.415+96delA
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 6/21 INFO_REALIGN_3_PRIME chr3 57242230
chr3:57242662 A
A
 G
G
 5 a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
others(2): Show 
a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
a0001c0004t0013g0155
a0001c0004t0013g0158
 5 HG01109.hp1
HG02451.hp1
HG02717.hp1
others(2): Show 
HG01109.hp1
HG02451.hp1
HG02717.hp1
HG02976.hp1
HG03579.hp2
 intron_variant MODIFIER c.416-194A>G
c.416-194A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 6/21 chr3 57242662
chr3:57242799 C
C
 A
A
 1 a0001c0001t0016g0119
a0001c0001t0016g0119
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.416-57C>A
c.416-57C>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 6/21 chr3 57242799
chr3:57243018 T
T
 A
A
 1 a0001c0001t0018g0164
a0001c0001t0018g0164
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.474+104T>A
c.474+104T>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 7/21 chr3 57243018
chr3:57243096 A
A
 G
G
 3 a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
 3 HG01109.hp1
HG02717.hp1
HG02976.hp1
HG01109.hp1
HG02717.hp1
HG02976.hp1
 intron_variant MODIFIER c.474+182A>G
c.474+182A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 7/21 chr3 57243096
chr3:57243207 C
C
 T
T
 2 a0001c0001t0025g0192
a0007c0010t0004g0189
a0001c0001t0025g0192
a0007c0010t0004g0189
 2 HG02559.hp1
HG02630.hp1
HG02559.hp1
HG02630.hp1
 intron_variant MODIFIER c.474+293C>T
c.474+293C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 7/21 chr3 57243207
chr3:57243246 T
T
 C
C
 1 a0002c0002t0003g0094
a0002c0002t0003g0094
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.474+332T>C
c.474+332T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 7/21 chr3 57243246
chr3:57243801 A
A
 G
G
 1 a0001c0001t0001g0081
a0001c0001t0001g0081
 1 NA19005.hp2
NA19005.hp2
 intron_variant MODIFIER c.474+887A>G
c.474+887A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 7/21 chr3 57243801
chr3:57243895 C
C
 T
T
 4 a0001c0001t0002g0160
a0001c0001t0007g0020
a0001c0001t0007g0110
others(1): Show 
a0001c0001t0002g0160
a0001c0001t0007g0020
a0001c0001t0007g0110
a0001c0001t0019g0104
 5 HG01243.hp1
HG01884.hp1
HG02922.hp2
others(2): Show 
HG01243.hp1
HG01884.hp1
HG02922.hp2
HG03453.hp2
NA19030.hp1
 intron_variant MODIFIER c.474+981C>T
c.474+981C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 7/21 chr3 57243895
chr3:57243928 A
A
 G
G
 1 a0001c0001t0001g0080
a0001c0001t0001g0080
 1 NA19090.hp1
NA19090.hp1
 intron_variant MODIFIER c.474+1014A>G
c.474+1014A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 7/21 chr3 57243928
chr3:57244296 C
C
 G
G
 5 a0001c0001t0004g0010
a0001c0001t0004g0200
a0001c0001t0004g0201
others(2): Show 
a0001c0001t0004g0010
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0014g0029
 8 HG01891.hp1
HG01891.hp2
HG02630.hp2
others(5): Show 
HG01891.hp1
HG01891.hp2
HG02630.hp2
HG02965.hp1
HG03098.hp1
HG03209.hp2
HG03471.hp2
NA20129.hp2
 intron_variant MODIFIER c.474+1382C>G
c.474+1382C>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 7/21 chr3 57244296
chr3:57244421 G
G
 T
T
 31 a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
others(28): Show 
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0014g0029
a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0001t0023g0195
a0001c0001t0024g0187
a0001c0001t0025g0192
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
a0007c0010t0004g0189
 37 HG01167.hp2
HG01169.hp2
HG01891.hp1
others(34): Show 
HG01167.hp2
HG01169.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02109.hp2
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp1
NA18522.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.474+1507G>T
c.474+1507G>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 7/21 chr3 57244421
chr3:57244635 T
T
 A
A
 5 a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
others(2): Show 
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
 5 HG02109.hp2
HG02809.hp2
HG02886.hp1
others(2): Show 
HG02109.hp2
HG02809.hp2
HG02886.hp1
HG02922.hp1
NA20129.hp1
 intron_variant MODIFIER c.475-1441T>A
c.475-1441T>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 7/21 chr3 57244635
chr3:57244635 T
T
 C
C
 5 a0001c0001t0001g0014
a0001c0001t0001g0043
a0001c0001t0001g0044
others(2): Show 
a0001c0001t0001g0014
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0081
 6 HG01934.hp2
HG02040.hp1
NA18966.hp1
others(3): Show 
HG01934.hp2
HG02040.hp1
NA18966.hp1
NA18988.hp1
NA19005.hp2
NA19078.hp1
 intron_variant MODIFIER c.475-1441T>C
c.475-1441T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 7/21 chr3 57244635
chr3:57244645 A
A
 G
G
 114 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
others(111): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0005g0009
a0001c0001t0005g0122
a0001c0001t0005g0167
a0001c0001t0005g0168
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0011g0011
a0001c0001t0011g0012
a0001c0001t0012g0032
a0001c0001t0012g0092
a0001c0001t0014g0029
a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0001t0021g0034
a0001c0001t0023g0195
a0001c0001t0024g0187
a0001c0001t0025g0192
a0001c0001t0026g0048
a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
a0001c0004t0013g0155
a0001c0004t0013g0158
a0002c0002t0003g0056
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
a0004c0005t0001g0018
a0006c0008t0001g0089
a0007c0010t0004g0189
 146 HG00099.hp2
HG00280.hp1
HG00544.hp2
others(143): Show 
HG00099.hp2
HG00280.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01071.hp1
HG01109.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01981.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02132.hp1
HG02135.hp2
HG02148.hp2
HG02258.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA19005.hp2
NA19007.hp1
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19079.hp2
NA19084.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.475-1431A>G
c.475-1431A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 7/21 chr3 57244645
chr3:57244753 A
A
 G
G
 2 a0001c0001t0001g0017
a0001c0001t0001g0058
a0001c0001t0001g0017
a0001c0001t0001g0058
 3 HG00099.hp2
HG00738.hp1
HG00741.hp2
HG00099.hp2
HG00738.hp1
HG00741.hp2
 intron_variant MODIFIER c.475-1323A>G
c.475-1323A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 7/21 chr3 57244753
chr3:57244967 A
A
 G
G
 1 a0001c0001t0001g0057
a0001c0001t0001g0057
 1 NA18968.hp1
NA18968.hp1
 intron_variant MODIFIER c.475-1109A>G
c.475-1109A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 7/21 chr3 57244967
chr3:57245093 A
A
 G
G
 31 a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
others(28): Show 
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0014g0029
a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0001t0023g0195
a0001c0001t0024g0187
a0001c0001t0025g0192
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
a0007c0010t0004g0189
 37 HG01167.hp2
HG01169.hp2
HG01891.hp1
others(34): Show 
HG01167.hp2
HG01169.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02109.hp2
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp1
NA18522.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.475-983A>G
c.475-983A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 7/21 chr3 57245093
chr3:57245522 G
G
 A
A
 2 a0001c0001t0012g0032
a0001c0001t0012g0092
a0001c0001t0012g0032
a0001c0001t0012g0092
 2 HG00639.hp1
HG03669.hp1
HG00639.hp1
HG03669.hp1
 intron_variant MODIFIER c.475-554G>A
c.475-554G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 7/21 chr3 57245522
chr3:57245547 A
A
 AT
AT
 3 a0001c0001t0001g0065
a0001c0001t0001g0079
a0002c0002t0003g0056
a0001c0001t0001g0065
a0001c0001t0001g0079
a0002c0002t0003g0056
 3 HG03669.hp2
HG03927.hp1
NA18968.hp2
HG03669.hp2
HG03927.hp1
NA18968.hp2
 intron_variant MODIFIER c.475-529_475-528ins
others(1): Show 
c.475-529_475-528insT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 7/21 chr3 57245547
chr3:57245547 AG
AG
 A
A
 30 a0001c0001t0001g0058
a0001c0001t0004g0010
a0001c0001t0004g0030
others(27): Show 
a0001c0001t0001g0058
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0010g0028
a0001c0001t0014g0029
a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0001t0023g0195
a0001c0001t0024g0187
a0001c0001t0025g0192
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
 36 HG00738.hp1
HG01167.hp2
HG01169.hp2
others(33): Show 
HG00738.hp1
HG01167.hp2
HG01169.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02109.hp2
HG02486.hp1
HG02559.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp1
NA18522.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.475-528delG
c.475-528delG
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 7/21 chr3 57245547
chr3:57245548 G
G
 T
T
 76 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
others(73): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0010g0194
a0001c0001t0011g0011
a0001c0001t0011g0012
a0001c0001t0012g0032
a0001c0001t0012g0092
a0001c0001t0021g0034
a0001c0001t0026g0048
a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
a0001c0004t0013g0155
a0001c0004t0013g0158
a0002c0002t0003g0056
a0004c0005t0001g0018
a0006c0008t0001g0089
a0007c0010t0004g0189
 99 HG00099.hp2
HG00280.hp1
HG00609.hp1
others(96): Show 
HG00099.hp2
HG00280.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00741.hp2
HG01071.hp1
HG01109.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01928.hp2
HG01934.hp2
HG01981.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02135.hp2
HG02148.hp2
HG02451.hp1
HG02559.hp2
HG02615.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp2
HG02818.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03492.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18940.hp1
NA18942.hp1
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA19005.hp2
NA19007.hp1
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19079.hp2
NA19084.hp1
NA19090.hp1
NA19090.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.475-528G>T
c.475-528G>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 7/21 chr3 57245548
chr3:57245652 C
C
 G
G
 1 a0001c0001t0025g0192
a0001c0001t0025g0192
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.475-424C>G
c.475-424C>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 7/21 chr3 57245652
chr3:57245659 C
C
 T
T
 1 a0001c0001t0020g0091
a0001c0001t0020g0091
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.475-417C>T
c.475-417C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 7/21 chr3 57245659
chr3:57245668 C
C
 T
T
 2 a0001c0001t0002g0025
a0001c0001t0002g0140
a0001c0001t0002g0025
a0001c0001t0002g0140
 3 HG00099.hp1
HG01496.hp2
NA20752.hp2
HG00099.hp1
HG01496.hp2
NA20752.hp2
 intron_variant MODIFIER c.475-408C>T
c.475-408C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 7/21 chr3 57245668
chr3:57245718 T
T
 C
C
 3 a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0023g0195
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0023g0195
 4 HG01934.hp1
HG02615.hp1
HG02886.hp2
others(1): Show 
HG01934.hp1
HG02615.hp1
HG02886.hp2
HG03130.hp2
 intron_variant MODIFIER c.475-358T>C
c.475-358T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 7/21 chr3 57245718
chr3:57245733 G
G
 A
A
 1 a0001c0001t0025g0192
a0001c0001t0025g0192
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.475-343G>A
c.475-343G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 7/21 chr3 57245733
chr3:57245735 C
C
 T
T
 1 a0001c0001t0004g0200
a0001c0001t0004g0200
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.475-341C>T
c.475-341C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 7/21 chr3 57245735
chr3:57245911 G
G
 A
A
 1 a0001c0001t0001g0081
a0001c0001t0001g0081
 1 NA19005.hp2
NA19005.hp2
 intron_variant MODIFIER c.475-165G>A
c.475-165G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 7/21 chr3 57245911
chr3:57246227 A
A
 G
G
 21 a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
others(18): Show 
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0005g0009
a0001c0001t0005g0122
a0001c0001t0005g0167
a0001c0001t0005g0168
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0014g0029
 28 HG01167.hp2
HG01169.hp2
HG01891.hp1
others(25): Show 
HG01167.hp2
HG01169.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02258.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02818.hp2
HG02895.hp2
HG02897.hp2
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
NA18522.hp1
NA19240.hp2
NA20129.hp2
NA21309.hp1
 splice_region_variant&intron_variant LOW c.621+5A>G
c.621+5A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 8/21 chr3 57246227
chr3:57246518 C
C
 T
T
 1 a0001c0001t0004g0010
a0001c0001t0004g0010
 3 HG03098.hp1
HG03471.hp2
NA20129.hp2
HG03098.hp1
HG03471.hp2
NA20129.hp2
 intron_variant MODIFIER c.621+296C>T
c.621+296C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 8/21 chr3 57246518
chr3:57246707 T
T
 C
C
 68 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
others(65): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0011g0011
a0001c0001t0011g0012
a0001c0001t0021g0034
a0001c0001t0026g0048
a0002c0002t0003g0056
a0004c0005t0001g0018
a0006c0008t0001g0089
 91 HG00099.hp2
HG00280.hp1
HG00609.hp1
others(88): Show 
HG00099.hp2
HG00280.hp1
HG00609.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01071.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01928.hp2
HG01934.hp2
HG01981.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02135.hp2
HG02148.hp2
HG02559.hp2
HG02698.hp2
HG02735.hp2
HG02818.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp2
HG03492.hp1
HG03654.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18940.hp1
NA18942.hp1
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA19005.hp2
NA19007.hp1
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19079.hp2
NA19084.hp1
NA19090.hp1
NA19090.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.621+485T>C
c.621+485T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 8/21 chr3 57246707
chr3:57246818 C
C
 T
T
 3 a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0023g0195
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0023g0195
 4 HG01934.hp1
HG02615.hp1
HG02886.hp2
others(1): Show 
HG01934.hp1
HG02615.hp1
HG02886.hp2
HG03130.hp2
 intron_variant MODIFIER c.622-577C>T
c.622-577C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 8/21 chr3 57246818
chr3:57246935 T
T
 C
C
 1 a0001c0001t0002g0142
a0001c0001t0002g0142
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.622-460T>C
c.622-460T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 8/21 chr3 57246935
chr3:57246950 G
G
 T
T
 1 a0001c0001t0004g0201
a0001c0001t0004g0201
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.622-445G>T
c.622-445G>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 8/21 chr3 57246950
chr3:57246989 TC
TC
 T
T
 6 a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0153
others(3): Show 
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0153
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0009t0002g0100
 6 HG00642.hp2
HG01358.hp1
HG01361.hp2
others(3): Show 
HG00642.hp2
HG01358.hp1
HG01361.hp2
HG01928.hp1
HG02698.hp1
HG03239.hp1
 intron_variant MODIFIER c.622-405delC
c.622-405delC
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 8/21 chr3 57246989
chr3:57246990 C
C
 CA
CA
 37 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0011
others(34): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0049
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0066
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0005g0167
a0001c0001t0011g0011
a0001c0001t0011g0012
a0001c0001t0012g0032
a0001c0001t0012g0092
a0001c0001t0026g0048
 53 HG00099.hp2
HG00280.hp1
HG00609.hp1
others(50): Show 
HG00099.hp2
HG00280.hp1
HG00609.hp1
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01168.hp1
HG01169.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01928.hp2
HG01981.hp1
HG01993.hp2
HG02040.hp2
HG02055.hp1
HG02148.hp2
HG02698.hp2
HG03017.hp2
HG03654.hp1
HG03669.hp1
HG03831.hp2
HG04115.hp2
HG04199.hp1
HG04228.hp1
NA18942.hp1
NA18946.hp1
NA18947.hp2
NA18968.hp1
NA18978.hp2
NA18979.hp1
NA18980.hp1
NA18981.hp1
NA18982.hp1
NA18986.hp2
NA18988.hp2
NA19007.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19084.hp1
NA19090.hp1
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.622-388dupA
c.622-388dupA
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 8/21 INFO_REALIGN_3_PRIME chr3 57246990
chr3:57247092 T
T
 C
C
 1 a0001c0001t0001g0088
a0001c0001t0001g0088
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.622-303T>C
c.622-303T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 8/21 chr3 57247092
chr3:57247555 T
T
 C
C
 35 a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
others(32): Show 
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0005g0009
a0001c0001t0005g0122
a0001c0001t0005g0167
a0001c0001t0005g0168
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0014g0029
a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0001t0023g0195
a0001c0001t0024g0187
a0001c0001t0025g0192
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
a0007c0010t0004g0189
 43 HG01167.hp2
HG01169.hp2
HG01891.hp1
others(40): Show 
HG01167.hp2
HG01169.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02055.hp1
HG02109.hp2
HG02258.hp1
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
NA18522.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.704+78T>C
c.704+78T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 9/21 chr3 57247555
chr3:57247569 C
C
 T
T
 3 a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0023g0195
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0023g0195
 4 HG01934.hp1
HG02615.hp1
HG02886.hp2
others(1): Show 
HG01934.hp1
HG02615.hp1
HG02886.hp2
HG03130.hp2
 intron_variant MODIFIER c.704+92C>T
c.704+92C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 9/21 chr3 57247569
chr3:57247777 T
T
 C
C
 3 a0001c0001t0003g0022
a0001c0001t0003g0102
a0001c0001t0003g0127
a0001c0001t0003g0022
a0001c0001t0003g0102
a0001c0001t0003g0127
 4 HG01099.hp2
HG01884.hp2
NA19043.hp1
others(1): Show 
HG01099.hp2
HG01884.hp2
NA19043.hp1
NA19240.hp1
 intron_variant MODIFIER c.704+300T>C
c.704+300T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 9/21 chr3 57247777
chr3:57247982 T
T
 C
C
 35 a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
others(32): Show 
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0005g0009
a0001c0001t0005g0122
a0001c0001t0005g0167
a0001c0001t0005g0168
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0014g0029
a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0001t0023g0195
a0001c0001t0024g0187
a0001c0001t0025g0192
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
a0007c0010t0004g0189
 43 HG01167.hp2
HG01169.hp2
HG01891.hp1
others(40): Show 
HG01167.hp2
HG01169.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02055.hp1
HG02109.hp2
HG02258.hp1
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
NA18522.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.705-211T>C
c.705-211T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 9/21 chr3 57247982
chr3:57248067 T
T
 G
G
 1 a0001c0001t0002g0114
a0001c0001t0002g0114
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.705-126T>G
c.705-126T>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 9/21 chr3 57248067
chr3:57248120 A
A
 G
G
 1 a0001c0001t0004g0201
a0001c0001t0004g0201
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.705-73A>G
c.705-73A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 9/21 chr3 57248120
chr3:57248644 C
C
 T
T
 68 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
others(65): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0011g0011
a0001c0001t0011g0012
a0001c0001t0021g0034
a0001c0001t0026g0048
a0002c0002t0003g0056
a0004c0005t0001g0018
a0006c0008t0001g0089
 91 HG00099.hp2
HG00280.hp1
HG00609.hp1
others(88): Show 
HG00099.hp2
HG00280.hp1
HG00609.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01071.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01928.hp2
HG01934.hp2
HG01981.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02135.hp2
HG02148.hp2
HG02559.hp2
HG02698.hp2
HG02735.hp2
HG02818.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp2
HG03492.hp1
HG03654.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18940.hp1
NA18942.hp1
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA19005.hp2
NA19007.hp1
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19079.hp2
NA19084.hp1
NA19090.hp1
NA19090.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.863+293C>T
c.863+293C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 10/21 chr3 57248644
chr3:57248701 C
C
 T
T
 3 a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0023g0195
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0023g0195
 4 HG01934.hp1
HG02615.hp1
HG02886.hp2
others(1): Show 
HG01934.hp1
HG02615.hp1
HG02886.hp2
HG03130.hp2
 intron_variant MODIFIER c.863+350C>T
c.863+350C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 10/21 chr3 57248701
chr3:57248770 T
T
 A
A
 35 a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
others(32): Show 
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0005g0009
a0001c0001t0005g0122
a0001c0001t0005g0167
a0001c0001t0005g0168
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0014g0029
a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0001t0023g0195
a0001c0001t0024g0187
a0001c0001t0025g0192
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
a0007c0010t0004g0189
 43 HG01167.hp2
HG01169.hp2
HG01891.hp1
others(40): Show 
HG01167.hp2
HG01169.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02055.hp1
HG02109.hp2
HG02258.hp1
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
NA18522.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.863+419T>A
c.863+419T>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 10/21 chr3 57248770
chr3:57249134 T
T
 C
C
 5 a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
others(2): Show 
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
 5 HG02109.hp2
HG02809.hp2
HG02886.hp1
others(2): Show 
HG02109.hp2
HG02809.hp2
HG02886.hp1
HG02922.hp1
NA20129.hp1
 intron_variant MODIFIER c.864-226T>C
c.864-226T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 10/21 chr3 57249134
chr3:57249579 T
T
 C
C
 1 a0001c0001t0001g0041
a0001c0001t0001g0041
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.1052+31T>C
c.1052+31T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 11/21 chr3 57249579
chr3:57249736 T
T
 C
C
 1 a0001c0001t0003g0127
a0001c0001t0003g0127
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.1052+188T>C
c.1052+188T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 11/21 chr3 57249736
chr3:57249764 A
A
 G
G
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 NA19066.hp1
NA19066.hp1
 intron_variant MODIFIER c.1052+216A>G
c.1052+216A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 11/21 chr3 57249764
chr3:57249766 T
T
 TA
TA
 5 a0001c0001t0004g0010
a0001c0001t0004g0200
a0001c0001t0004g0201
others(2): Show 
a0001c0001t0004g0010
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0014g0029
 8 HG01891.hp1
HG01891.hp2
HG02630.hp2
others(5): Show 
HG01891.hp1
HG01891.hp2
HG02630.hp2
HG02965.hp1
HG03098.hp1
HG03209.hp2
HG03471.hp2
NA20129.hp2
 intron_variant MODIFIER c.1052+221dupA
c.1052+221dupA
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 11/21 INFO_REALIGN_3_PRIME chr3 57249766
chr3:57249970 TGG
TGG
 T
T
 110 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
others(107): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0005g0009
a0001c0001t0005g0122
a0001c0001t0005g0167
a0001c0001t0005g0168
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0011g0011
a0001c0001t0011g0012
a0001c0001t0012g0032
a0001c0001t0012g0092
a0001c0001t0014g0029
a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0001t0021g0034
a0001c0001t0023g0195
a0001c0001t0024g0187
a0001c0001t0025g0192
a0001c0001t0026g0048
a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
a0001c0004t0013g0155
a0001c0004t0013g0158
a0002c0002t0003g0056
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
a0004c0005t0001g0018
a0006c0008t0001g0089
a0007c0010t0004g0189
 141 HG00099.hp2
HG00280.hp1
HG00609.hp1
others(138): Show 
HG00099.hp2
HG00280.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01071.hp1
HG01109.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01981.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02135.hp2
HG02148.hp2
HG02258.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18940.hp1
NA18942.hp1
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA19005.hp2
NA19007.hp1
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19079.hp2
NA19084.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1052+430_1052+431d
others(4): Show 
c.1052+430_1052+431delGG
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 11/21 INFO_REALIGN_3_PRIME chr3 57249970
chr3:57250101 G
G
 C
C
 3 a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0023g0195
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0023g0195
 4 HG01934.hp1
HG02615.hp1
HG02886.hp2
others(1): Show 
HG01934.hp1
HG02615.hp1
HG02886.hp2
HG03130.hp2
 intron_variant MODIFIER c.1052+553G>C
c.1052+553G>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 11/21 chr3 57250101
chr3:57250299 C
C
 T
T
 2 a0001c0001t0012g0032
a0001c0001t0012g0092
a0001c0001t0012g0032
a0001c0001t0012g0092
 2 HG00639.hp1
HG03669.hp1
HG00639.hp1
HG03669.hp1
 intron_variant MODIFIER c.1052+751C>T
c.1052+751C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 11/21 chr3 57250299
chr3:57250316 A
A
 T
T
 1 a0001c0001t0014g0029
a0001c0001t0014g0029
 2 HG01891.hp2
HG02630.hp2
HG01891.hp2
HG02630.hp2
 intron_variant MODIFIER c.1052+768A>T
c.1052+768A>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 11/21 chr3 57250316
chr3:57250317 T
T
 A
A
 1 a0001c0001t0004g0201
a0001c0001t0004g0201
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.1052+769T>A
c.1052+769T>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 11/21 chr3 57250317
chr3:57250402 A
A
 G
G
 2 a0001c0001t0002g0114
a0001c0001t0002g0163
a0001c0001t0002g0114
a0001c0001t0002g0163
 2 HG01109.hp2
HG03041.hp1
HG01109.hp2
HG03041.hp1
 intron_variant MODIFIER c.1052+854A>G
c.1052+854A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 11/21 chr3 57250402
chr3:57250796 C
C
 T
T
 35 a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
others(32): Show 
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0005g0009
a0001c0001t0005g0122
a0001c0001t0005g0167
a0001c0001t0005g0168
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0014g0029
a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0001t0023g0195
a0001c0001t0024g0187
a0001c0001t0025g0192
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
a0007c0010t0004g0189
 43 HG01167.hp2
HG01169.hp2
HG01891.hp1
others(40): Show 
HG01167.hp2
HG01169.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02055.hp1
HG02109.hp2
HG02258.hp1
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
NA18522.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1052+1248C>T
c.1052+1248C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 11/21 chr3 57250796
chr3:57250804 C
C
 CT
CT
 64 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
others(61): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0181
a0001c0001t0002g0093
a0001c0001t0002g0152
a0001c0001t0002g0175
a0001c0001t0011g0011
a0001c0001t0011g0012
a0001c0001t0021g0034
a0001c0001t0026g0048
a0002c0002t0003g0056
a0002c0002t0003g0161
a0004c0005t0001g0018
a0006c0008t0001g0089
 87 HG00099.hp2
HG00280.hp1
HG00609.hp1
others(84): Show 
HG00099.hp2
HG00280.hp1
HG00609.hp1
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01192.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01928.hp2
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02559.hp2
HG02698.hp2
HG02735.hp2
HG02818.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp2
HG03492.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18940.hp1
NA18942.hp1
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA19005.hp2
NA19007.hp1
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19079.hp2
NA19084.hp1
NA19090.hp1
NA19090.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.1052+1277dupT
c.1052+1277dupT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 11/21 INFO_REALIGN_3_PRIME chr3 57250804
chr3:57250804 C
C
 CTT
CTT
 6 a0001c0001t0001g0045
a0001c0001t0001g0055
a0001c0001t0001g0059
others(3): Show 
a0001c0001t0001g0045
a0001c0001t0001g0055
a0001c0001t0001g0059
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
 6 HG00639.hp2
HG01346.hp2
HG01934.hp2
others(3): Show 
HG00639.hp2
HG01346.hp2
HG01934.hp2
HG01981.hp1
HG02148.hp2
HG04184.hp1
 intron_variant MODIFIER c.1052+1276_1052+127
others(6): Show 
c.1052+1276_1052+1277dupTT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 11/21 INFO_REALIGN_3_PRIME chr3 57250804
chr3:57250804 CT
CT
 C
C
 8 a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
others(5): Show 
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0143
a0001c0001t0002g0173
a0001c0001t0004g0206
a0001c0001t0012g0032
a0001c0001t0012g0092
 8 HG00609.hp2
HG00639.hp1
HG00741.hp1
others(5): Show 
HG00609.hp2
HG00639.hp1
HG00741.hp1
HG01071.hp2
HG01981.hp2
HG02897.hp2
HG03669.hp1
NA20805.hp1
 intron_variant MODIFIER c.1052+1277delT
c.1052+1277delT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 11/21 INFO_REALIGN_3_PRIME chr3 57250804
chr3:57250822 T
T
 G
G
 2 a0001c0001t0002g0114
a0001c0001t0002g0163
a0001c0001t0002g0114
a0001c0001t0002g0163
 2 HG01109.hp2
HG03041.hp1
HG01109.hp2
HG03041.hp1
 intron_variant MODIFIER c.1052+1274T>G
c.1052+1274T>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 11/21 chr3 57250822
chr3:57250846 C
C
 T
T
 1 a0001c0001t0003g0022
a0001c0001t0003g0022
 2 HG01884.hp2
NA19240.hp1
HG01884.hp2
NA19240.hp1
 intron_variant MODIFIER c.1052+1298C>T
c.1052+1298C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 11/21 chr3 57250846
chr3:57250848 C
C
 T
T
 2 a0001c0001t0012g0032
a0001c0001t0012g0092
a0001c0001t0012g0032
a0001c0001t0012g0092
 2 HG00639.hp1
HG03669.hp1
HG00639.hp1
HG03669.hp1
 intron_variant MODIFIER c.1052+1300C>T
c.1052+1300C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 11/21 chr3 57250848
chr3:57250868 C
C
 A
A
 4 a0001c0001t0003g0024
a0001c0001t0003g0126
a0001c0001t0003g0169
others(1): Show 
a0001c0001t0003g0024
a0001c0001t0003g0126
a0001c0001t0003g0169
a0001c0001t0022g0024
 4 HG01243.hp2
HG03139.hp2
HG03579.hp1
others(1): Show 
HG01243.hp2
HG03139.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.1052+1320C>A
c.1052+1320C>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 11/21 chr3 57250868
chr3:57250901 G
G
 A
A
 1 a0001c0001t0002g0177
a0001c0001t0002g0177
 1 HG03492.hp2
HG03492.hp2
 intron_variant MODIFIER c.1052+1353G>A
c.1052+1353G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 11/21 chr3 57250901
chr3:57250953 G
G
 C
C
 2 a0001c0001t0012g0032
a0001c0001t0012g0092
a0001c0001t0012g0032
a0001c0001t0012g0092
 2 HG00639.hp1
HG03669.hp1
HG00639.hp1
HG03669.hp1
 intron_variant MODIFIER c.1053-1316G>C
c.1053-1316G>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 11/21 chr3 57250953
chr3:57250964 C
C
 T
T
 2 a0001c0001t0002g0093
a0001c0001t0002g0180
a0001c0001t0002g0093
a0001c0001t0002g0180
 2 HG03688.hp1
HG04115.hp1
HG03688.hp1
HG04115.hp1
 intron_variant MODIFIER c.1053-1305C>T
c.1053-1305C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 11/21 chr3 57250964
chr3:57250997 C
C
 T
T
 35 a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
others(32): Show 
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0005g0009
a0001c0001t0005g0122
a0001c0001t0005g0167
a0001c0001t0005g0168
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0014g0029
a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0001t0023g0195
a0001c0001t0024g0187
a0001c0001t0025g0192
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
a0007c0010t0004g0189
 43 HG01167.hp2
HG01169.hp2
HG01891.hp1
others(40): Show 
HG01167.hp2
HG01169.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02055.hp1
HG02109.hp2
HG02258.hp1
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
NA18522.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1053-1272C>T
c.1053-1272C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 11/21 chr3 57250997
chr3:57251155 A
A
 G
G
 2 a0001c0001t0007g0020
a0001c0001t0007g0110
a0001c0001t0007g0020
a0001c0001t0007g0110
 3 HG01884.hp1
HG02922.hp2
HG03453.hp2
HG01884.hp1
HG02922.hp2
HG03453.hp2
 intron_variant MODIFIER c.1053-1114A>G
c.1053-1114A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 11/21 chr3 57251155
chr3:57251180 C
C
 T
T
 1 a0001c0001t0024g0187
a0001c0001t0024g0187
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.1053-1089C>T
c.1053-1089C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 11/21 chr3 57251180
chr3:57251261 C
C
 T
T
 1 a0001c0001t0001g0083
a0001c0001t0001g0083
 1 HG01071.hp1
HG01071.hp1
 intron_variant MODIFIER c.1053-1008C>T
c.1053-1008C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 11/21 chr3 57251261
chr3:57251404 A
A
 T
T
 3 a0001c0001t0003g0022
a0001c0001t0003g0102
a0001c0001t0003g0127
a0001c0001t0003g0022
a0001c0001t0003g0102
a0001c0001t0003g0127
 4 HG01099.hp2
HG01884.hp2
NA19043.hp1
others(1): Show 
HG01099.hp2
HG01884.hp2
NA19043.hp1
NA19240.hp1
 intron_variant MODIFIER c.1053-865A>T
c.1053-865A>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 11/21 chr3 57251404
chr3:57251434 A
A
 G
G
 5 a0001c0001t0004g0010
a0001c0001t0004g0200
a0001c0001t0004g0201
others(2): Show 
a0001c0001t0004g0010
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0014g0029
 8 HG01891.hp1
HG01891.hp2
HG02630.hp2
others(5): Show 
HG01891.hp1
HG01891.hp2
HG02630.hp2
HG02965.hp1
HG03098.hp1
HG03209.hp2
HG03471.hp2
NA20129.hp2
 intron_variant MODIFIER c.1053-835A>G
c.1053-835A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 11/21 chr3 57251434
chr3:57251461 G
G
 A
A
 2 a0001c0001t0002g0090
a0001c0001t0020g0091
a0001c0001t0002g0090
a0001c0001t0020g0091
 2 HG02486.hp2
HG02809.hp1
HG02486.hp2
HG02809.hp1
 intron_variant MODIFIER c.1053-808G>A
c.1053-808G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 11/21 chr3 57251461
chr3:57251479 C
C
 T
T
 35 a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
others(32): Show 
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0005g0009
a0001c0001t0005g0122
a0001c0001t0005g0167
a0001c0001t0005g0168
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0014g0029
a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0001t0023g0195
a0001c0001t0024g0187
a0001c0001t0025g0192
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
a0007c0010t0004g0189
 43 HG01167.hp2
HG01169.hp2
HG01891.hp1
others(40): Show 
HG01167.hp2
HG01169.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02055.hp1
HG02109.hp2
HG02258.hp1
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
NA18522.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1053-790C>T
c.1053-790C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 11/21 chr3 57251479
chr3:57251493 T
T
 C
C
 110 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
others(107): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0005g0009
a0001c0001t0005g0122
a0001c0001t0005g0167
a0001c0001t0005g0168
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0011g0011
a0001c0001t0011g0012
a0001c0001t0012g0032
a0001c0001t0012g0092
a0001c0001t0014g0029
a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0001t0021g0034
a0001c0001t0023g0195
a0001c0001t0024g0187
a0001c0001t0025g0192
a0001c0001t0026g0048
a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
a0001c0004t0013g0155
a0001c0004t0013g0158
a0002c0002t0003g0056
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
a0004c0005t0001g0018
a0006c0008t0001g0089
a0007c0010t0004g0189
 141 HG00099.hp2
HG00280.hp1
HG00609.hp1
others(138): Show 
HG00099.hp2
HG00280.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01071.hp1
HG01109.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01981.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02135.hp2
HG02148.hp2
HG02258.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18940.hp1
NA18942.hp1
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA19005.hp2
NA19007.hp1
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19079.hp2
NA19084.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1053-776T>C
c.1053-776T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 11/21 chr3 57251493
chr3:57251524 C
C
 CA
CA
 13 a0001c0001t0001g0043
a0001c0001t0001g0058
a0001c0001t0001g0066
others(10): Show 
a0001c0001t0001g0043
a0001c0001t0001g0058
a0001c0001t0001g0066
a0001c0001t0001g0076
a0001c0001t0001g0085
a0001c0001t0002g0103
a0001c0001t0002g0160
a0001c0001t0004g0201
a0001c0001t0005g0167
a0001c0001t0007g0020
a0001c0001t0007g0110
a0001c0001t0019g0104
a0001c0004t0009g0156
 14 HG00738.hp1
HG01109.hp1
HG01243.hp1
others(11): Show 
HG00738.hp1
HG01109.hp1
HG01243.hp1
HG01884.hp1
HG02055.hp1
HG02135.hp2
HG02922.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03834.hp1
NA18979.hp1
NA19030.hp1
NA19078.hp1
 intron_variant MODIFIER c.1053-726dupA
c.1053-726dupA
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 11/21 INFO_REALIGN_3_PRIME chr3 57251524
chr3:57251754 A
A
 G
G
 1 a0002c0002t0003g0094
a0002c0002t0003g0094
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.1053-515A>G
c.1053-515A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 11/21 chr3 57251754
chr3:57251788 T
T
 A
A
 1 a0001c0001t0008g0116
a0001c0001t0008g0116
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.1053-481T>A
c.1053-481T>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 11/21 chr3 57251788
chr3:57251809 C
C
 T
T
 1 a0001c0001t0025g0192
a0001c0001t0025g0192
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.1053-460C>T
c.1053-460C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 11/21 chr3 57251809
chr3:57251869 T
T
 G
G
 1 a0001c0001t0008g0116
a0001c0001t0008g0116
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.1053-400T>G
c.1053-400T>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 11/21 chr3 57251869
chr3:57252210 G
G
 A
A
 5 a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
others(2): Show 
a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
a0001c0004t0013g0155
a0001c0004t0013g0158
 5 HG01109.hp1
HG02451.hp1
HG02717.hp1
others(2): Show 
HG01109.hp1
HG02451.hp1
HG02717.hp1
HG02976.hp1
HG03579.hp2
 intron_variant MODIFIER c.1053-59G>A
c.1053-59G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 11/21 chr3 57252210
chr3:57252504 A
A
 G
G
 1 a0001c0001t0002g0118
a0001c0001t0002g0118
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.1095+193A>G
c.1095+193A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 12/21 chr3 57252504
chr3:57252546 T
T
 G
G
 1 a0001c0001t0002g0160
a0001c0001t0002g0160
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.1095+235T>G
c.1095+235T>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 12/21 chr3 57252546
chr3:57252810 T
T
 C
C
 2 a0001c0001t0012g0032
a0001c0001t0012g0092
a0001c0001t0012g0032
a0001c0001t0012g0092
 2 HG00639.hp1
HG03669.hp1
HG00639.hp1
HG03669.hp1
 intron_variant MODIFIER c.1095+499T>C
c.1095+499T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 12/21 chr3 57252810
chr3:57253048 C
C
 A
A
 9 a0001c0001t0024g0187
a0001c0001t0025g0192
a0003c0003t0004g0159
others(6): Show 
a0001c0001t0024g0187
a0001c0001t0025g0192
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
a0007c0010t0004g0189
 9 HG02109.hp2
HG02559.hp1
HG02630.hp1
others(6): Show 
HG02109.hp2
HG02559.hp1
HG02630.hp1
HG02809.hp2
HG02886.hp1
HG02922.hp1
HG03453.hp1
HG03471.hp1
NA20129.hp1
 intron_variant MODIFIER c.1096-634C>A
c.1096-634C>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 12/21 chr3 57253048
chr3:57253264 C
C
 T
T
 1 a0001c0001t0002g0151
a0001c0001t0002g0151
 1 NA19007.hp2
NA19007.hp2
 intron_variant MODIFIER c.1096-418C>T
c.1096-418C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 12/21 chr3 57253264
chr3:57253267 G
G
 A
A
 2 a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0198
a0001c0001t0004g0199
 2 HG02622.hp2
HG02717.hp2
HG02622.hp2
HG02717.hp2
 intron_variant MODIFIER c.1096-415G>A
c.1096-415G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 12/21 chr3 57253267
chr3:57253484 C
C
 T
T
 1 a0001c0001t0002g0150
a0001c0001t0002g0150
 1 HG03834.hp2
HG03834.hp2
 intron_variant MODIFIER c.1096-198C>T
c.1096-198C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 12/21 chr3 57253484
chr3:57253878 T
T
 G
G
 1 a0002c0002t0003g0105
a0002c0002t0003g0105
 1 HG02148.hp1
HG02148.hp1
 intron_variant MODIFIER c.1152+140T>G
c.1152+140T>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 13/21 chr3 57253878
chr3:57253922 G
G
 A
A
 29 a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0014
others(26): Show 
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0014
a0001c0001t0001g0039
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0055
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0021g0034
a0002c0002t0003g0056
a0006c0008t0001g0089
 35 HG00639.hp2
HG01071.hp1
HG01123.hp2
others(32): Show 
HG00639.hp2
HG01071.hp1
HG01123.hp2
HG01167.hp1
HG01192.hp1
HG01256.hp2
HG01934.hp2
HG02040.hp1
HG02080.hp1
HG02080.hp2
HG02135.hp2
HG02735.hp2
HG02896.hp2
HG02897.hp1
HG03492.hp1
HG03669.hp2
HG03704.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04184.hp1
HG04204.hp2
HG06807.hp2
NA18940.hp1
NA18950.hp2
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18979.hp2
NA18988.hp1
NA19005.hp2
NA19064.hp2
NA19078.hp1
NA19079.hp1
NA19090.hp2
 intron_variant MODIFIER c.1152+184G>A
c.1152+184G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 13/21 chr3 57253922
chr3:57253945 C
C
 T
T
 5 a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0015g0185
others(2): Show 
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0001t0023g0195
 6 HG01934.hp1
HG02486.hp1
HG02615.hp1
others(3): Show 
HG01934.hp1
HG02486.hp1
HG02615.hp1
HG02886.hp2
HG03130.hp2
HG03516.hp1
 intron_variant MODIFIER c.1152+207C>T
c.1152+207C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 13/21 chr3 57253945
chr3:57254339 C
C
 T
T
 2 a0001c0001t0025g0192
a0007c0010t0004g0189
a0001c0001t0025g0192
a0007c0010t0004g0189
 2 HG02559.hp1
HG02630.hp1
HG02559.hp1
HG02630.hp1
 intron_variant MODIFIER c.1152+601C>T
c.1152+601C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 13/21 chr3 57254339
chr3:57254508 G
G
 A
A
 1 a0001c0001t0002g0103
a0001c0001t0002g0103
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.1152+770G>A
c.1152+770G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 13/21 chr3 57254508
chr3:57254774 G
G
 A
A
 2 a0001c0001t0001g0039
a0001c0001t0001g0050
a0001c0001t0001g0039
a0001c0001t0001g0050
 2 NA18940.hp1
NA19079.hp1
NA18940.hp1
NA19079.hp1
 intron_variant MODIFIER c.1152+1036G>A
c.1152+1036G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 13/21 chr3 57254774
chr3:57254844 T
T
 C
C
 121 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
others(118): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0181
a0001c0001t0002g0025
a0001c0001t0002g0140
a0001c0001t0002g0142
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0165
a0001c0001t0003g0109
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0005g0009
a0001c0001t0005g0122
a0001c0001t0005g0167
a0001c0001t0005g0168
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0007g0020
a0001c0001t0007g0110
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0011g0011
a0001c0001t0011g0012
a0001c0001t0012g0032
a0001c0001t0012g0092
a0001c0001t0014g0029
a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0001t0021g0034
a0001c0001t0023g0195
a0001c0001t0024g0187
a0001c0001t0025g0192
a0001c0001t0026g0048
a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
a0001c0004t0013g0155
a0001c0004t0013g0158
a0002c0002t0003g0056
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
a0004c0005t0001g0018
a0006c0008t0001g0089
a0007c0010t0004g0189
 154 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(151): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01071.hp1
HG01109.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01981.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02148.hp2
HG02258.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA19005.hp2
NA19007.hp1
NA19043.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19079.hp2
NA19084.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1152+1106T>C
c.1152+1106T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 13/21 chr3 57254844
chr3:57255256 T
T
 C
C
 73 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
others(70): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0181
a0001c0001t0002g0135
a0001c0001t0002g0142
a0001c0001t0002g0165
a0001c0001t0011g0011
a0001c0001t0011g0012
a0001c0001t0021g0034
a0001c0001t0026g0048
a0002c0002t0003g0106
a0004c0005t0001g0018
a0006c0008t0001g0089
 96 HG00099.hp2
HG00280.hp1
HG00609.hp1
others(93): Show 
HG00099.hp2
HG00280.hp1
HG00609.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01071.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01928.hp2
HG01934.hp2
HG01981.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02135.hp1
HG02135.hp2
HG02148.hp2
HG02559.hp2
HG02698.hp2
HG02735.hp2
HG02818.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp2
HG03492.hp1
HG03654.hp1
HG03654.hp2
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA19005.hp2
NA19007.hp1
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19079.hp2
NA19084.hp1
NA19090.hp1
NA19090.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.1152+1518T>C
c.1152+1518T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 13/21 chr3 57255256
chr3:57255360 T
T
 C
C
 1 a0001c0001t0002g0103
a0001c0001t0002g0103
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.1153-1597T>C
c.1153-1597T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 13/21 chr3 57255360
chr3:57255494 G
G
 A
A
 3 a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0023g0195
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0023g0195
 4 HG01934.hp1
HG02615.hp1
HG02886.hp2
others(1): Show 
HG01934.hp1
HG02615.hp1
HG02886.hp2
HG03130.hp2
 intron_variant MODIFIER c.1153-1463G>A
c.1153-1463G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 13/21 chr3 57255494
chr3:57255690 G
G
 A
A
 2 a0001c0001t0003g0096
a0001c0001t0003g0097
a0001c0001t0003g0096
a0001c0001t0003g0097
 2 HG02895.hp1
HG02896.hp1
HG02895.hp1
HG02896.hp1
 intron_variant MODIFIER c.1153-1267G>A
c.1153-1267G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 13/21 chr3 57255690
chr3:57255788 A
A
 G
G
 3 a0001c0001t0006g0203
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0006g0203
a0001c0001t0006g0209
a0001c0001t0006g0210
 3 HG02818.hp2
HG03041.hp2
HG03139.hp1
HG02818.hp2
HG03041.hp2
HG03139.hp1
 intron_variant MODIFIER c.1153-1169A>G
c.1153-1169A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 13/21 chr3 57255788
chr3:57255982 T
T
 G
G
 35 a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
others(32): Show 
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0005g0009
a0001c0001t0005g0122
a0001c0001t0005g0167
a0001c0001t0005g0168
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0014g0029
a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0001t0023g0195
a0001c0001t0024g0187
a0001c0001t0025g0192
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
a0007c0010t0004g0189
 43 HG01167.hp2
HG01169.hp2
HG01891.hp1
others(40): Show 
HG01167.hp2
HG01169.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02055.hp1
HG02109.hp2
HG02258.hp1
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
NA18522.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1153-975T>G
c.1153-975T>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 13/21 chr3 57255982
chr3:57256328 AT
AT
 A
A
 107 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
others(104): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0005g0009
a0001c0001t0005g0122
a0001c0001t0005g0167
a0001c0001t0005g0168
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0011g0011
a0001c0001t0011g0012
a0001c0001t0014g0029
a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0001t0021g0034
a0001c0001t0023g0195
a0001c0001t0024g0187
a0001c0001t0025g0192
a0001c0001t0026g0048
a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
a0001c0004t0013g0155
a0001c0004t0013g0158
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
a0004c0005t0001g0018
a0006c0008t0001g0089
a0007c0010t0004g0189
 138 HG00099.hp2
HG00280.hp1
HG00609.hp1
others(135): Show 
HG00099.hp2
HG00280.hp1
HG00609.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01071.hp1
HG01109.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01981.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02135.hp2
HG02148.hp2
HG02258.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18940.hp1
NA18942.hp1
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA19005.hp2
NA19007.hp1
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19079.hp2
NA19084.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1153-623delT
c.1153-623delT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 13/21 INFO_REALIGN_3_PRIME chr3 57256328
chr3:57256472 T
T
 A
A
 2 a0001c0001t0002g0114
a0001c0001t0002g0163
a0001c0001t0002g0114
a0001c0001t0002g0163
 2 HG01109.hp2
HG03041.hp1
HG01109.hp2
HG03041.hp1
 intron_variant MODIFIER c.1153-485T>A
c.1153-485T>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 13/21 chr3 57256472
chr3:57256836 A
A
 C
C
 5 a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
others(2): Show 
a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
a0001c0004t0013g0155
a0001c0004t0013g0158
 5 HG01109.hp1
HG02451.hp1
HG02717.hp1
others(2): Show 
HG01109.hp1
HG02451.hp1
HG02717.hp1
HG02976.hp1
HG03579.hp2
 intron_variant MODIFIER c.1153-121A>C
c.1153-121A>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 13/21 chr3 57256836
chr3:57256837 G
G
 T
T
 1 a0001c0001t0001g0035
a0001c0001t0001g0035
 1 NA18988.hp2
NA18988.hp2
 intron_variant MODIFIER c.1153-120G>T
c.1153-120G>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 13/21 chr3 57256837
chr3:57256840 G
G
 A
A
 1 a0001c0001t0001g0035
a0001c0001t0001g0035
 1 NA18988.hp2
NA18988.hp2
 intron_variant MODIFIER c.1153-117G>A
c.1153-117G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 13/21 chr3 57256840
chr3:57257080 A
A
 G
G
 4 a0001c0001t0001g0039
a0001c0001t0001g0050
a0001c0001t0001g0062
others(1): Show 
a0001c0001t0001g0039
a0001c0001t0001g0050
a0001c0001t0001g0062
a0001c0001t0001g0085
 4 HG02080.hp2
HG02135.hp2
NA18940.hp1
others(1): Show 
HG02080.hp2
HG02135.hp2
NA18940.hp1
NA19079.hp1
 intron_variant MODIFIER c.1247+29A>G
c.1247+29A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 14/21 chr3 57257080
chr3:57257091 C
C
 G
G
 3 a0001c0001t0003g0022
a0001c0001t0003g0102
a0001c0001t0003g0127
a0001c0001t0003g0022
a0001c0001t0003g0102
a0001c0001t0003g0127
 4 HG01099.hp2
HG01884.hp2
NA19043.hp1
others(1): Show 
HG01099.hp2
HG01884.hp2
NA19043.hp1
NA19240.hp1
 intron_variant MODIFIER c.1247+40C>G
c.1247+40C>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 14/21 chr3 57257091
chr3:57257190 A
A
 G
G
 1 a0001c0001t0003g0099
a0001c0001t0003g0099
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1248-56A>G
c.1248-56A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 14/21 chr3 57257190
chr3:57257463 G
G
 C
C
 3 a0001c0001t0002g0133
a0001c0001t0002g0171
a0001c0009t0002g0100
a0001c0001t0002g0133
a0001c0001t0002g0171
a0001c0009t0002g0100
 3 HG01358.hp1
HG01361.hp2
HG01928.hp1
HG01358.hp1
HG01361.hp2
HG01928.hp1
 intron_variant MODIFIER c.1430+35G>C
c.1430+35G>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 15/21 chr3 57257463
chr3:57257598 A
A
 C
C
 1 a0001c0001t0002g0121
a0001c0001t0002g0121
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.1430+170A>C
c.1430+170A>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 15/21 chr3 57257598
chr3:57257802 C
C
 T
T
 2 a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0001t0015g0185
a0001c0001t0015g0188
 2 HG02486.hp1
HG03516.hp1
HG02486.hp1
HG03516.hp1
 intron_variant MODIFIER c.1430+374C>T
c.1430+374C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 15/21 chr3 57257802
chr3:57257887 A
A
 G
G
 5 a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
others(2): Show 
a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
a0001c0004t0013g0155
a0001c0004t0013g0158
 5 HG01109.hp1
HG02451.hp1
HG02717.hp1
others(2): Show 
HG01109.hp1
HG02451.hp1
HG02717.hp1
HG02976.hp1
HG03579.hp2
 intron_variant MODIFIER c.1430+459A>G
c.1430+459A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 15/21 chr3 57257887
chr3:57258391 G
G
 T
T
 71 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
others(68): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0181
a0001c0001t0003g0022
a0001c0001t0003g0102
a0001c0001t0003g0127
a0001c0001t0011g0011
a0001c0001t0011g0012
a0001c0001t0021g0034
a0001c0001t0026g0048
a0004c0005t0001g0018
a0006c0008t0001g0089
 95 HG00099.hp2
HG00280.hp1
HG00609.hp1
others(92): Show 
HG00099.hp2
HG00280.hp1
HG00609.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01071.hp1
HG01099.hp2
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01934.hp2
HG01981.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02135.hp2
HG02148.hp2
HG02559.hp2
HG02698.hp2
HG02735.hp2
HG02818.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp2
HG03492.hp1
HG03654.hp1
HG03654.hp2
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18940.hp1
NA18942.hp1
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA19005.hp2
NA19007.hp1
NA19043.hp1
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19079.hp2
NA19084.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.1431-637G>T
c.1431-637G>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 15/21 chr3 57258391
chr3:57258984 A
A
 T
T
 2 a0001c0001t0002g0090
a0001c0001t0020g0091
a0001c0001t0002g0090
a0001c0001t0020g0091
 2 HG02486.hp2
HG02809.hp1
HG02486.hp2
HG02809.hp1
 intron_variant MODIFIER c.1431-44A>T
c.1431-44A>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 15/21 chr3 57258984
chr3:57259269 T
T
 C
C
 71 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
others(68): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0181
a0001c0001t0003g0022
a0001c0001t0003g0102
a0001c0001t0003g0127
a0001c0001t0011g0011
a0001c0001t0011g0012
a0001c0001t0021g0034
a0001c0001t0026g0048
a0004c0005t0001g0018
a0006c0008t0001g0089
 95 HG00099.hp2
HG00280.hp1
HG00609.hp1
others(92): Show 
HG00099.hp2
HG00280.hp1
HG00609.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01071.hp1
HG01099.hp2
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01934.hp2
HG01981.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02135.hp2
HG02148.hp2
HG02559.hp2
HG02698.hp2
HG02735.hp2
HG02818.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp2
HG03492.hp1
HG03654.hp1
HG03654.hp2
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18940.hp1
NA18942.hp1
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA19005.hp2
NA19007.hp1
NA19043.hp1
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19079.hp2
NA19084.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.1483+189T>C
c.1483+189T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 16/21 chr3 57259269
chr3:57259460 T
T
 TTG
TTG
 6 a0001c0001t0001g0044
a0001c0004t0009g0156
a0001c0004t0009g0157
others(3): Show 
a0001c0001t0001g0044
a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
a0001c0004t0013g0155
a0001c0004t0013g0158
 6 HG01109.hp1
HG02040.hp1
HG02451.hp1
others(3): Show 
HG01109.hp1
HG02040.hp1
HG02451.hp1
HG02717.hp1
HG02976.hp1
HG03579.hp2
 intron_variant MODIFIER c.1484-367_1484-366d
others(4): Show 
c.1484-367_1484-366dupGT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 16/21 INFO_REALIGN_3_PRIME chr3 57259460
chr3:57259551 C
C
 T
T
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 NA18943.hp1
NA18943.hp1
 intron_variant MODIFIER c.1484-294C>T
c.1484-294C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 16/21 chr3 57259551
chr3:57259774 A
A
 G
G
 13 a0002c0002t0003g0004
a0002c0002t0003g0005
a0002c0002t0003g0021
others(10): Show 
a0002c0002t0003g0004
a0002c0002t0003g0005
a0002c0002t0003g0021
a0002c0002t0003g0056
a0002c0002t0003g0094
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0111
a0002c0002t0003g0125
a0002c0002t0003g0161
 20 HG00280.hp2
HG00738.hp2
HG01099.hp1
others(17): Show 
HG00280.hp2
HG00738.hp2
HG01099.hp1
HG01192.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp1
HG01993.hp1
HG02148.hp1
HG03239.hp2
HG03669.hp2
HG03704.hp1
HG03831.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1484-71A>G
c.1484-71A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 16/21 chr3 57259774
chr3:57260057 C
C
 G
G
 71 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
others(68): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0181
a0001c0001t0003g0022
a0001c0001t0003g0102
a0001c0001t0003g0127
a0001c0001t0011g0011
a0001c0001t0011g0012
a0001c0001t0021g0034
a0001c0001t0026g0048
a0004c0005t0001g0018
a0006c0008t0001g0089
 95 HG00099.hp2
HG00280.hp1
HG00609.hp1
others(92): Show 
HG00099.hp2
HG00280.hp1
HG00609.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01071.hp1
HG01099.hp2
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01934.hp2
HG01981.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02135.hp2
HG02148.hp2
HG02559.hp2
HG02698.hp2
HG02735.hp2
HG02818.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp2
HG03492.hp1
HG03654.hp1
HG03654.hp2
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18940.hp1
NA18942.hp1
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA19005.hp2
NA19007.hp1
NA19043.hp1
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19079.hp2
NA19084.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.1658+38C>G
c.1658+38C>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 17/21 chr3 57260057
chr3:57260201 T
T
 C
C
 21 a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
others(18): Show 
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0005g0009
a0001c0001t0005g0122
a0001c0001t0005g0167
a0001c0001t0005g0168
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0014g0029
 28 HG01167.hp2
HG01169.hp2
HG01891.hp1
others(25): Show 
HG01167.hp2
HG01169.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02258.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02818.hp2
HG02895.hp2
HG02897.hp2
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
NA18522.hp1
NA19240.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1695+48T>C
c.1695+48T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 18/21 chr3 57260201
chr3:57260236 G
G
 A
A
 1 a0001c0001t0021g0034
a0001c0001t0021g0034
 1 HG01123.hp2
HG01123.hp2
 intron_variant MODIFIER c.1695+83G>A
c.1695+83G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 18/21 chr3 57260236
chr3:57260267 T
T
 C
C
 72 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
others(69): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0181
a0001c0001t0002g0093
a0001c0001t0003g0022
a0001c0001t0003g0102
a0001c0001t0003g0127
a0001c0001t0011g0011
a0001c0001t0011g0012
a0001c0001t0021g0034
a0001c0001t0026g0048
a0004c0005t0001g0018
a0006c0008t0001g0089
 96 HG00099.hp2
HG00280.hp1
HG00609.hp1
others(93): Show 
HG00099.hp2
HG00280.hp1
HG00609.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01071.hp1
HG01099.hp2
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01934.hp2
HG01981.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02135.hp2
HG02148.hp2
HG02559.hp2
HG02698.hp2
HG02735.hp2
HG02818.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp2
HG03492.hp1
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18940.hp1
NA18942.hp1
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA19005.hp2
NA19007.hp1
NA19043.hp1
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19079.hp2
NA19084.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.1695+114T>C
c.1695+114T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 18/21 chr3 57260267
chr3:57260856 CAAATT
CAAATT
 C
C
 68 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
others(65): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0181
a0001c0001t0003g0022
a0001c0001t0003g0102
a0001c0001t0003g0127
a0001c0001t0011g0011
a0001c0001t0011g0012
a0001c0001t0021g0034
a0001c0001t0026g0048
a0006c0008t0001g0089
 91 HG00099.hp2
HG00280.hp1
HG00609.hp1
others(88): Show 
HG00099.hp2
HG00280.hp1
HG00609.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01071.hp1
HG01099.hp2
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01934.hp2
HG01981.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02135.hp2
HG02148.hp2
HG02698.hp2
HG02735.hp2
HG02896.hp2
HG02897.hp1
HG03017.hp2
HG03492.hp1
HG03654.hp1
HG03654.hp2
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18940.hp1
NA18942.hp1
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA19005.hp2
NA19007.hp1
NA19043.hp1
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19079.hp2
NA19084.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.1842+89_1842+93del
others(5): Show 
c.1842+89_1842+93delAATTA
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 INFO_REALIGN_3_PRIME chr3 57260856
chr3:57260864 ATTAG
ATTAG
 A
A
 3 a0001c0001t0002g0090
a0001c0001t0020g0091
a0001c0001t0025g0192
a0001c0001t0002g0090
a0001c0001t0020g0091
a0001c0001t0025g0192
 3 HG02486.hp2
HG02559.hp1
HG02809.hp1
HG02486.hp2
HG02559.hp1
HG02809.hp1
 intron_variant MODIFIER c.1842+96_1842+99del
others(4): Show 
c.1842+96_1842+99delTAGT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 INFO_REALIGN_3_PRIME chr3 57260864
chr3:57261086 G
G
 A
A
 28 a0001c0001t0003g0002
a0001c0001t0003g0024
a0001c0001t0003g0095
others(25): Show 
a0001c0001t0003g0002
a0001c0001t0003g0024
a0001c0001t0003g0095
a0001c0001t0003g0096
a0001c0001t0003g0097
a0001c0001t0003g0099
a0001c0001t0003g0107
a0001c0001t0003g0109
a0001c0001t0003g0126
a0001c0001t0003g0129
a0001c0001t0003g0162
a0001c0001t0003g0169
a0001c0001t0022g0024
a0001c0011t0002g0132
a0002c0002t0003g0004
a0002c0002t0003g0005
a0002c0002t0003g0021
a0002c0002t0003g0056
a0002c0002t0003g0094
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0111
a0002c0002t0003g0125
a0002c0002t0003g0161
a0003c0003t0004g0159
 40 HG00280.hp2
HG00738.hp2
HG01081.hp2
others(37): Show 
HG00280.hp2
HG00738.hp2
HG01081.hp2
HG01099.hp1
HG01192.hp2
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp1
HG01993.hp1
HG02109.hp1
HG02148.hp1
HG02280.hp2
HG02451.hp2
HG02895.hp1
HG02896.hp1
HG02976.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03239.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp2
NA19043.hp2
NA20300.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1842+312G>A
c.1842+312G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57261086
chr3:57261094 TC
TC
 T
T
 3 a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0023g0195
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0023g0195
 4 HG01934.hp1
HG02615.hp1
HG02886.hp2
others(1): Show 
HG01934.hp1
HG02615.hp1
HG02886.hp2
HG03130.hp2
 intron_variant MODIFIER c.1842+321delC
c.1842+321delC
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57261094
chr3:57261101 C
C
 T
T
 2 a0001c0001t0012g0032
a0001c0001t0012g0092
a0001c0001t0012g0032
a0001c0001t0012g0092
 2 HG00639.hp1
HG03669.hp1
HG00639.hp1
HG03669.hp1
 intron_variant MODIFIER c.1842+327C>T
c.1842+327C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57261101
chr3:57261165 C
C
 T
T
 1 a0001c0001t0002g0149
a0001c0001t0002g0149
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.1842+391C>T
c.1842+391C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57261165
chr3:57261240 G
G
 A
A
 1 a0001c0001t0002g0128
a0001c0001t0002g0128
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.1842+466G>A
c.1842+466G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57261240
chr3:57261500 A
A
 G
G
 2 a0001c0001t0002g0115
a0001c0001t0002g0148
a0001c0001t0002g0115
a0001c0001t0002g0148
 2 HG02132.hp2
NA19078.hp2
HG02132.hp2
NA19078.hp2
 intron_variant MODIFIER c.1842+726A>G
c.1842+726A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57261500
chr3:57261601 C
C
 G
G
 26 a0001c0001t0003g0002
a0001c0001t0003g0024
a0001c0001t0003g0095
others(23): Show 
a0001c0001t0003g0002
a0001c0001t0003g0024
a0001c0001t0003g0095
a0001c0001t0003g0096
a0001c0001t0003g0097
a0001c0001t0003g0099
a0001c0001t0003g0107
a0001c0001t0003g0109
a0001c0001t0003g0126
a0001c0001t0003g0129
a0001c0001t0003g0162
a0001c0001t0003g0169
a0001c0001t0022g0024
a0002c0002t0003g0004
a0002c0002t0003g0005
a0002c0002t0003g0021
a0002c0002t0003g0056
a0002c0002t0003g0094
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0111
a0002c0002t0003g0125
a0002c0002t0003g0161
 38 HG00280.hp2
HG00738.hp2
HG01099.hp1
others(35): Show 
HG00280.hp2
HG00738.hp2
HG01099.hp1
HG01192.hp2
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp1
HG01993.hp1
HG02109.hp1
HG02148.hp1
HG02280.hp2
HG02451.hp2
HG02895.hp1
HG02896.hp1
HG02976.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03239.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp2
NA19043.hp2
NA20300.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1842+827C>G
c.1842+827C>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57261601
chr3:57261620 G
G
 A
A
 33 a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
others(30): Show 
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0005g0009
a0001c0001t0005g0122
a0001c0001t0005g0167
a0001c0001t0005g0168
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0014g0029
a0001c0001t0023g0195
a0001c0001t0024g0187
a0001c0001t0025g0192
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
a0007c0010t0004g0189
 41 HG01167.hp2
HG01169.hp2
HG01891.hp1
others(38): Show 
HG01167.hp2
HG01169.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02055.hp1
HG02109.hp2
HG02258.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
NA18522.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1842+846G>A
c.1842+846G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57261620
chr3:57261647 T
T
 A
A
 72 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
others(69): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0181
a0001c0001t0002g0093
a0001c0001t0003g0022
a0001c0001t0003g0102
a0001c0001t0003g0127
a0001c0001t0011g0011
a0001c0001t0011g0012
a0001c0001t0021g0034
a0001c0001t0026g0048
a0004c0005t0001g0018
a0006c0008t0001g0089
 96 HG00099.hp2
HG00280.hp1
HG00609.hp1
others(93): Show 
HG00099.hp2
HG00280.hp1
HG00609.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01071.hp1
HG01099.hp2
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01934.hp2
HG01981.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02135.hp2
HG02148.hp2
HG02559.hp2
HG02698.hp2
HG02735.hp2
HG02818.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp2
HG03492.hp1
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18940.hp1
NA18942.hp1
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA19005.hp2
NA19007.hp1
NA19043.hp1
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19079.hp2
NA19084.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.1842+873T>A
c.1842+873T>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57261647
chr3:57261813 C
C
 T
T
 72 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
others(69): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0181
a0001c0001t0002g0093
a0001c0001t0003g0022
a0001c0001t0003g0102
a0001c0001t0003g0127
a0001c0001t0011g0011
a0001c0001t0011g0012
a0001c0001t0021g0034
a0001c0001t0026g0048
a0004c0005t0001g0018
a0006c0008t0001g0089
 96 HG00099.hp2
HG00280.hp1
HG00609.hp1
others(93): Show 
HG00099.hp2
HG00280.hp1
HG00609.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01071.hp1
HG01099.hp2
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01934.hp2
HG01981.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02135.hp2
HG02148.hp2
HG02559.hp2
HG02698.hp2
HG02735.hp2
HG02818.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp2
HG03492.hp1
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18940.hp1
NA18942.hp1
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA19005.hp2
NA19007.hp1
NA19043.hp1
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19079.hp2
NA19084.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.1842+1039C>T
c.1842+1039C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57261813
chr3:57261924 A
A
 G
G
 26 a0001c0001t0003g0002
a0001c0001t0003g0024
a0001c0001t0003g0095
others(23): Show 
a0001c0001t0003g0002
a0001c0001t0003g0024
a0001c0001t0003g0095
a0001c0001t0003g0096
a0001c0001t0003g0097
a0001c0001t0003g0099
a0001c0001t0003g0107
a0001c0001t0003g0109
a0001c0001t0003g0126
a0001c0001t0003g0129
a0001c0001t0003g0162
a0001c0001t0003g0169
a0001c0001t0022g0024
a0002c0002t0003g0004
a0002c0002t0003g0005
a0002c0002t0003g0021
a0002c0002t0003g0056
a0002c0002t0003g0094
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0111
a0002c0002t0003g0125
a0002c0002t0003g0161
 38 HG00280.hp2
HG00738.hp2
HG01099.hp1
others(35): Show 
HG00280.hp2
HG00738.hp2
HG01099.hp1
HG01192.hp2
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp1
HG01993.hp1
HG02109.hp1
HG02148.hp1
HG02280.hp2
HG02451.hp2
HG02895.hp1
HG02896.hp1
HG02976.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03239.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp2
NA19043.hp2
NA20300.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1842+1150A>G
c.1842+1150A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57261924
chr3:57261930 G
G
 A
A
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.1842+1156G>A
c.1842+1156G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57261930
chr3:57262050 C
C
 T
T
 1 a0001c0001t0001g0049
a0001c0001t0001g0049
 1 NA19074.hp1
NA19074.hp1
 intron_variant MODIFIER c.1842+1276C>T
c.1842+1276C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57262050
chr3:57262092 C
C
 T
T
 1 a0001c0001t0002g0145
a0001c0001t0002g0145
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.1842+1318C>T
c.1842+1318C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57262092
chr3:57262229 T
T
 C
C
 7 a0001c0001t0005g0009
a0001c0001t0005g0122
a0001c0001t0005g0167
others(4): Show 
a0001c0001t0005g0009
a0001c0001t0005g0122
a0001c0001t0005g0167
a0001c0001t0005g0168
a0001c0001t0006g0203
a0001c0001t0006g0209
a0001c0001t0006g0210
 9 HG02055.hp1
HG02258.hp1
HG02622.hp1
others(6): Show 
HG02055.hp1
HG02258.hp1
HG02622.hp1
HG02818.hp2
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03486.hp1
NA21309.hp1
 intron_variant MODIFIER c.1842+1455T>C
c.1842+1455T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57262229
chr3:57262235 A
A
 T
T
 1 a0001c0001t0002g0174
a0001c0001t0002g0174
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.1842+1461A>T
c.1842+1461A>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57262235
chr3:57262385 C
C
 CTTT
CTTT
 5 a0001c0001t0001g0052
a0001c0001t0004g0207
a0001c0001t0006g0210
others(2): Show 
a0001c0001t0001g0052
a0001c0001t0004g0207
a0001c0001t0006g0210
a0001c0001t0015g0185
a0001c0001t0015g0188
 5 HG01167.hp1
HG02486.hp1
HG02895.hp2
others(2): Show 
HG01167.hp1
HG02486.hp1
HG02895.hp2
HG03041.hp2
HG03516.hp1
 intron_variant MODIFIER c.1842+1634_1842+163
others(7): Show 
c.1842+1634_1842+1636dupTTT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 INFO_REALIGN_3_PRIME chr3 57262385
chr3:57262385 C
C
 CTTTT
CTTTT
 76 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
others(73): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0181
a0001c0001t0002g0093
a0001c0001t0003g0022
a0001c0001t0003g0096
a0001c0001t0003g0102
a0001c0001t0003g0127
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0201
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0208
a0001c0001t0005g0009
a0001c0001t0005g0168
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0007g0020
a0001c0001t0007g0110
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0011g0011
a0001c0001t0014g0029
a0001c0001t0021g0034
a0003c0003t0004g0193
a0004c0005t0001g0018
a0006c0008t0001g0089
a0007c0010t0004g0189
 109 HG00099.hp2
HG00280.hp1
HG00609.hp1
others(106): Show 
HG00099.hp2
HG00280.hp1
HG00609.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01071.hp1
HG01099.hp2
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01192.hp1
HG01257.hp1
HG01261.hp1
HG01346.hp2
HG01433.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01981.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02135.hp2
HG02148.hp2
HG02258.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03540.hp1
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG04115.hp2
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18979.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA19005.hp2
NA19007.hp1
NA19043.hp1
NA19066.hp1
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.1842+1633_1842+163
others(8): Show 
c.1842+1633_1842+1636dupTTTT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 INFO_REALIGN_3_PRIME chr3 57262385
chr3:57262385 C
C
 CTTTTT
CTTTTT
 50 a0001c0001t0001g0012
a0001c0001t0001g0033
a0001c0001t0001g0043
others(47): Show 
a0001c0001t0001g0012
a0001c0001t0001g0033
a0001c0001t0001g0043
a0001c0001t0001g0053
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0084
a0001c0001t0002g0165
a0001c0001t0003g0002
a0001c0001t0003g0024
a0001c0001t0003g0095
a0001c0001t0003g0097
a0001c0001t0003g0099
a0001c0001t0003g0109
a0001c0001t0003g0126
a0001c0001t0003g0129
a0001c0001t0003g0169
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0005g0122
a0001c0001t0005g0167
a0001c0001t0011g0012
a0001c0001t0022g0024
a0001c0001t0023g0195
a0001c0001t0024g0187
a0001c0001t0025g0192
a0001c0001t0026g0048
a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
a0002c0002t0003g0004
a0002c0002t0003g0005
a0002c0002t0003g0021
a0002c0002t0003g0056
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0111
a0002c0002t0003g0125
a0002c0002t0003g0161
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
 62 HG00280.hp2
HG00738.hp2
HG01099.hp1
others(59): Show 
HG00280.hp2
HG00738.hp2
HG01099.hp1
HG01109.hp1
HG01169.hp1
HG01192.hp2
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01361.hp1
HG01496.hp1
HG01515.hp1
HG01517.hp1
HG01891.hp1
HG01928.hp2
HG01993.hp1
HG02055.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02148.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02717.hp1
HG02717.hp2
HG02886.hp1
HG02895.hp1
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp1
HG03942.hp1
HG04184.hp1
HG04199.hp2
NA18522.hp2
NA18906.hp2
NA18946.hp1
NA18978.hp2
NA18979.hp1
NA19030.hp2
NA19043.hp2
NA19078.hp1
NA20129.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1842+1632_1842+163
others(9): Show 
c.1842+1632_1842+1636dupTTTTT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 INFO_REALIGN_3_PRIME chr3 57262385
chr3:57262385 C
C
 CTTTTTT
CTTTTTT
 5 a0001c0001t0001g0072
a0001c0001t0003g0107
a0001c0001t0003g0162
others(2): Show 
a0001c0001t0001g0072
a0001c0001t0003g0107
a0001c0001t0003g0162
a0002c0002t0003g0094
a0002c0002t0003g0108
 5 HG01358.hp2
HG01433.hp2
HG02109.hp1
others(2): Show 
HG01358.hp2
HG01433.hp2
HG02109.hp1
HG03098.hp2
NA19079.hp2
 intron_variant MODIFIER c.1842+1631_1842+163
others(10): Show 
c.1842+1631_1842+1636dupTTTTTT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 INFO_REALIGN_3_PRIME chr3 57262385
chr3:57262385 C
C
 CTTTTTTT
others(4): Show 
CTTTTTTTTTTT
 2 a0001c0001t0016g0119
a0001c0001t0019g0104
a0001c0001t0016g0119
a0001c0001t0019g0104
 2 NA18906.hp1
NA19030.hp1
NA18906.hp1
NA19030.hp1
 intron_variant MODIFIER c.1842+1626_1842+163
others(15): Show 
c.1842+1626_1842+1636dupTTTTTTTTTTT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 INFO_REALIGN_3_PRIME chr3 57262385
chr3:57262385 C
C
 CTTTTTTT
others(6): Show 
CTTTTTTTTTTTTT
 1 a0001c0001t0002g0114
a0001c0001t0002g0114
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.1842+1624_1842+163
others(17): Show 
c.1842+1624_1842+1636dupTTTTTTTTTTTTT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 INFO_REALIGN_3_PRIME chr3 57262385
chr3:57262385 C
C
 CTTTTTTT
others(7): Show 
CTTTTTTTTTTTTTT
 3 a0001c0001t0002g0090
a0001c0001t0002g0128
a0001c0001t0002g0163
a0001c0001t0002g0090
a0001c0001t0002g0128
a0001c0001t0002g0163
 3 HG01109.hp2
HG02683.hp2
HG02809.hp1
HG01109.hp2
HG02683.hp2
HG02809.hp1
 intron_variant MODIFIER c.1842+1623_1842+163
others(18): Show 
c.1842+1623_1842+1636dupTTTTTTTTTTTTTT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 INFO_REALIGN_3_PRIME chr3 57262385
chr3:57262385 C
C
 CTTTTTTT
others(8): Show 
CTTTTTTTTTTTTTTT
 1 a0001c0001t0020g0091
a0001c0001t0020g0091
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.1842+1622_1842+163
others(19): Show 
c.1842+1622_1842+1636dupTTTTTTTTTTTTTTT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 INFO_REALIGN_3_PRIME chr3 57262385
chr3:57262385 C
C
 CTTTTTTT
others(10): Show 
CTTTTTTTTTTTTTTTTT
 4 a0001c0001t0008g0116
a0001c0001t0017g0123
a0001c0001t0018g0164
others(1): Show 
a0001c0001t0008g0116
a0001c0001t0017g0123
a0001c0001t0018g0164
a0001c0006t0002g0120
 4 HG02280.hp1
HG03927.hp2
HG04204.hp1
others(1): Show 
HG02280.hp1
HG03927.hp2
HG04204.hp1
HG06807.hp1
 intron_variant MODIFIER c.1842+1620_1842+163
others(21): Show 
c.1842+1620_1842+1636dupTTTTTTTTTTTTTTTTT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 INFO_REALIGN_3_PRIME chr3 57262385
chr3:57262385 C
C
 CTTTTTTT
others(11): Show 
CTTTTTTTTTTTTTTTTTT
 4 a0001c0001t0002g0118
a0001c0001t0002g0121
a0001c0001t0002g0166
others(1): Show 
a0001c0001t0002g0118
a0001c0001t0002g0121
a0001c0001t0002g0166
a0001c0001t0008g0124
 4 HG00735.hp2
HG02647.hp1
HG03017.hp1
others(1): Show 
HG00735.hp2
HG02647.hp1
HG03017.hp1
HG04228.hp2
 intron_variant MODIFIER c.1842+1619_1842+163
others(22): Show 
c.1842+1619_1842+1636dupTTTTTTTTTTTTTTTTTT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 INFO_REALIGN_3_PRIME chr3 57262385
chr3:57262385 C
C
 CTTTTTTT
others(12): Show 
CTTTTTTTTTTTTTTTTTTT
 10 a0001c0001t0001g0006
a0001c0001t0001g0068
a0001c0001t0002g0006
others(7): Show 
a0001c0001t0001g0006
a0001c0001t0001g0068
a0001c0001t0002g0006
a0001c0001t0002g0103
a0001c0001t0002g0145
a0001c0001t0002g0148
a0001c0001t0002g0150
a0001c0001t0002g0152
a0001c0001t0002g0196
a0001c0011t0002g0132
 12 HG01081.hp2
HG02132.hp2
HG03195.hp2
others(9): Show 
HG01081.hp2
HG02132.hp2
HG03195.hp2
HG03209.hp1
HG03834.hp2
NA18946.hp2
NA18950.hp1
NA18978.hp1
NA18980.hp2
NA18986.hp1
NA19005.hp1
NA19084.hp2
 intron_variant MODIFIER c.1842+1618_1842+163
others(23): Show 
c.1842+1618_1842+1636dupTTTTTTTTTTTTTTTTTTT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 INFO_REALIGN_3_PRIME chr3 57262385
chr3:57262385 C
C
 CTTTTTTT
others(13): Show 
CTTTTTTTTTTTTTTTTTTTT
 11 a0001c0001t0001g0013
a0001c0001t0002g0025
a0001c0001t0002g0026
others(8): Show 
a0001c0001t0001g0013
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0115
a0001c0001t0002g0131
a0001c0001t0002g0138
a0001c0001t0002g0149
a0001c0001t0002g0160
a0001c0001t0002g0174
a0001c0001t0002g0177
a0001c0001t0002g0178
 14 HG00099.hp1
HG00544.hp1
HG00544.hp2
others(11): Show 
HG00099.hp1
HG00544.hp1
HG00544.hp2
HG00735.hp1
HG01081.hp1
HG01123.hp1
HG01168.hp2
HG01243.hp1
HG01496.hp2
HG02132.hp1
HG03492.hp2
NA18942.hp2
NA19066.hp2
NA19078.hp2
 intron_variant MODIFIER c.1842+1617_1842+163
others(24): Show 
c.1842+1617_1842+1636dupTTTTTTTTTTTTTTTTTTTT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 INFO_REALIGN_3_PRIME chr3 57262385
chr3:57262385 C
C
 CTTTTTTT
others(14): Show 
CTTTTTTTTTTTTTTTTTTTTT
 6 a0001c0001t0001g0038
a0001c0001t0002g0140
a0001c0001t0002g0141
others(3): Show 
a0001c0001t0001g0038
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0144
a0001c0001t0002g0147
a0001c0001t0002g0180
 6 HG01516.hp2
HG04115.hp1
NA18947.hp1
others(3): Show 
HG01516.hp2
HG04115.hp1
NA18947.hp1
NA18966.hp2
NA20752.hp2
NA21309.hp2
 intron_variant MODIFIER c.1842+1616_1842+163
others(25): Show 
c.1842+1616_1842+1636dupTTTTTTTTTTTTTTTTTTTTT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 INFO_REALIGN_3_PRIME chr3 57262385
chr3:57262385 C
C
 CTTTTTTT
others(15): Show 
CTTTTTTTTTTTTTTTTTTTTTT
 4 a0001c0001t0002g0113
a0001c0001t0002g0151
a0001c0001t0002g0176
others(1): Show 
a0001c0001t0002g0113
a0001c0001t0002g0151
a0001c0001t0002g0176
a0001c0001t0002g0179
 4 HG02055.hp2
HG03942.hp2
NA18940.hp2
others(1): Show 
HG02055.hp2
HG03942.hp2
NA18940.hp2
NA19007.hp2
 intron_variant MODIFIER c.1842+1615_1842+163
others(26): Show 
c.1842+1615_1842+1636dupTTTTTTTTTTTTTTTTTTTTTT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 INFO_REALIGN_3_PRIME chr3 57262385
chr3:57262385 C
C
 CTTTTTTT
others(16): Show 
CTTTTTTTTTTTTTTTTTTTTTTT
 3 a0001c0001t0002g0027
a0001c0001t0002g0170
a0001c0001t0008g0117
a0001c0001t0002g0027
a0001c0001t0002g0170
a0001c0001t0008g0117
 4 HG02258.hp2
HG02970.hp1
NA18943.hp2
others(1): Show 
HG02258.hp2
HG02970.hp1
NA18943.hp2
NA18981.hp2
 intron_variant MODIFIER c.1842+1614_1842+163
others(27): Show 
c.1842+1614_1842+1636dupTTTTTTTTTTTTTTTTTTTTTTT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 INFO_REALIGN_3_PRIME chr3 57262385
chr3:57262385 C
C
 CTTTTTTT
others(17): Show 
CTTTTTTTTTTTTTTTTTTTTTTTT
 1 a0001c0001t0002g0171
a0001c0001t0002g0171
 1 HG01361.hp2
HG01361.hp2
 intron_variant MODIFIER c.1842+1613_1842+163
others(28): Show 
c.1842+1613_1842+1636dupTTTTTTTTTTTTTTTTTTTTTTTT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 INFO_REALIGN_3_PRIME chr3 57262385
chr3:57262385 C
C
 CTTTTTTT
others(18): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTT
 3 a0001c0001t0002g0136
a0001c0009t0002g0100
a0005c0007t0002g0197
a0001c0001t0002g0136
a0001c0009t0002g0100
a0005c0007t0002g0197
 3 HG01071.hp2
HG01358.hp1
NA18982.hp2
HG01071.hp2
HG01358.hp1
NA18982.hp2
 intron_variant MODIFIER c.1842+1612_1842+163
others(29): Show 
c.1842+1612_1842+1636dupTTTTTTTTTTTTTTTTTTTTTTTTT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 INFO_REALIGN_3_PRIME chr3 57262385
chr3:57262385 C
C
 CTTTTTTT
others(19): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTTT
 2 a0001c0001t0002g0130
a0001c0001t0002g0172
a0001c0001t0002g0130
a0001c0001t0002g0172
 2 HG00642.hp2
HG01346.hp1
HG00642.hp2
HG01346.hp1
 intron_variant MODIFIER c.1842+1636_1842+163
others(30): Show 
c.1842+1636_1842+1637insTTTTTTTTTTTTTTTTTTTTTTTTTT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 INFO_REALIGN_3_PRIME chr3 57262385
chr3:57262385 C
C
 CTTTTTTT
others(20): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTTTT
 3 a0001c0001t0001g0037
a0001c0001t0002g0133
a0001c0001t0002g0143
a0001c0001t0001g0037
a0001c0001t0002g0133
a0001c0001t0002g0143
 3 HG00609.hp2
HG01928.hp1
NA18943.hp1
HG00609.hp2
HG01928.hp1
NA18943.hp1
 intron_variant MODIFIER c.1842+1636_1842+163
others(31): Show 
c.1842+1636_1842+1637insTTTTTTTTTTTTTTTTTTTTTTTTTT
T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 INFO_REALIGN_3_PRIME chr3 57262385
chr3:57262385 C
C
 CTTTTTTT
others(21): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTTTTT
 1 a0001c0001t0002g0142
a0001c0001t0002g0142
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.1842+1636_1842+163
others(32): Show 
c.1842+1636_1842+1637insTTTTTTTTTTTTTTTTTTTTTTTTTT
TT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 INFO_REALIGN_3_PRIME chr3 57262385
chr3:57262385 C
C
 CTTTTTTT
others(22): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
 1 a0001c0001t0002g0153
a0001c0001t0002g0153
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.1842+1636_1842+163
others(33): Show 
c.1842+1636_1842+1637insTTTTTTTTTTTTTTTTTTTTTTTTTT
TTT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 INFO_REALIGN_3_PRIME chr3 57262385
chr3:57262385 C
C
 CTTTTTTT
others(23): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
 1 a0001c0001t0002g0182
a0001c0001t0002g0182
 1 HG01257.hp2
HG01257.hp2
 intron_variant MODIFIER c.1842+1636_1842+163
others(34): Show 
c.1842+1636_1842+1637insTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 INFO_REALIGN_3_PRIME chr3 57262385
chr3:57262385 C
C
 CTTTTTTT
others(24): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
 2 a0001c0001t0002g0134
a0001c0001t0002g0139
a0001c0001t0002g0134
a0001c0001t0002g0139
 2 HG02683.hp1
HG02698.hp1
HG02683.hp1
HG02698.hp1
 intron_variant MODIFIER c.1842+1636_1842+163
others(35): Show 
c.1842+1636_1842+1637insTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 INFO_REALIGN_3_PRIME chr3 57262385
chr3:57262385 C
C
 CTTTTTTT
others(25): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
 2 a0001c0001t0002g0135
a0001c0001t0002g0137
a0001c0001t0002g0135
a0001c0001t0002g0137
 2 HG00741.hp1
NA20805.hp1
HG00741.hp1
NA20805.hp1
 intron_variant MODIFIER c.1842+1636_1842+163
others(36): Show 
c.1842+1636_1842+1637insTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 INFO_REALIGN_3_PRIME chr3 57262385
chr3:57262385 C
C
 CTTTTTTT
others(26): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
 1 a0001c0001t0002g0173
a0001c0001t0002g0173
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.1842+1636_1842+163
others(37): Show 
c.1842+1636_1842+1637insTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 INFO_REALIGN_3_PRIME chr3 57262385
chr3:57262385 C
C
 CTTTTTTT
others(29): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
 1 a0001c0001t0002g0154
a0001c0001t0002g0154
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.1842+1636_1842+163
others(40): Show 
c.1842+1636_1842+1637insTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 INFO_REALIGN_3_PRIME chr3 57262385
chr3:57262421 C
C
 T
T
 26 a0001c0001t0003g0002
a0001c0001t0003g0024
a0001c0001t0003g0095
others(23): Show 
a0001c0001t0003g0002
a0001c0001t0003g0024
a0001c0001t0003g0095
a0001c0001t0003g0096
a0001c0001t0003g0097
a0001c0001t0003g0099
a0001c0001t0003g0107
a0001c0001t0003g0109
a0001c0001t0003g0126
a0001c0001t0003g0129
a0001c0001t0003g0162
a0001c0001t0003g0169
a0001c0001t0022g0024
a0002c0002t0003g0004
a0002c0002t0003g0005
a0002c0002t0003g0021
a0002c0002t0003g0056
a0002c0002t0003g0094
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0111
a0002c0002t0003g0125
a0002c0002t0003g0161
 38 HG00280.hp2
HG00738.hp2
HG01099.hp1
others(35): Show 
HG00280.hp2
HG00738.hp2
HG01099.hp1
HG01192.hp2
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp1
HG01993.hp1
HG02109.hp1
HG02148.hp1
HG02280.hp2
HG02451.hp2
HG02895.hp1
HG02896.hp1
HG02976.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03239.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp2
NA19043.hp2
NA20300.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1842+1647C>T
c.1842+1647C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57262421
chr3:57262511 G
G
 GC
GC
 140 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
others(137): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0181
a0001c0001t0002g0093
a0001c0001t0003g0002
a0001c0001t0003g0022
a0001c0001t0003g0024
a0001c0001t0003g0095
a0001c0001t0003g0096
a0001c0001t0003g0097
a0001c0001t0003g0099
a0001c0001t0003g0102
a0001c0001t0003g0107
a0001c0001t0003g0109
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0129
a0001c0001t0003g0162
a0001c0001t0003g0169
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0005g0009
a0001c0001t0005g0122
a0001c0001t0005g0167
a0001c0001t0005g0168
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0011g0011
a0001c0001t0011g0012
a0001c0001t0012g0032
a0001c0001t0012g0092
a0001c0001t0014g0029
a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0001t0021g0034
a0001c0001t0022g0024
a0001c0001t0023g0195
a0001c0001t0024g0187
a0001c0001t0025g0192
a0001c0001t0026g0048
a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
a0001c0004t0013g0155
a0001c0004t0013g0158
a0002c0002t0003g0004
a0002c0002t0003g0005
a0002c0002t0003g0021
a0002c0002t0003g0056
a0002c0002t0003g0094
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0111
a0002c0002t0003g0125
a0002c0002t0003g0161
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
a0004c0005t0001g0018
a0006c0008t0001g0089
a0007c0010t0004g0189
 184 HG00099.hp2
HG00280.hp1
HG00280.hp2
others(181): Show 
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02258.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp1
NA18942.hp1
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA19005.hp2
NA19007.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19079.hp2
NA19084.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1842+1738dupC
c.1842+1738dupC
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 INFO_REALIGN_3_PRIME chr3 57262511
chr3:57262572 G
G
 C
C
 2 a0001c0001t0012g0032
a0001c0001t0012g0092
a0001c0001t0012g0032
a0001c0001t0012g0092
 2 HG00639.hp1
HG03669.hp1
HG00639.hp1
HG03669.hp1
 intron_variant MODIFIER c.1842+1798G>C
c.1842+1798G>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57262572
chr3:57262590 T
T
 A
A
 2 a0001c0001t0012g0032
a0001c0001t0012g0092
a0001c0001t0012g0032
a0001c0001t0012g0092
 2 HG00639.hp1
HG03669.hp1
HG00639.hp1
HG03669.hp1
 intron_variant MODIFIER c.1842+1816T>A
c.1842+1816T>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57262590
chr3:57262724 C
C
 T
T
 72 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
others(69): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0181
a0001c0001t0002g0093
a0001c0001t0003g0022
a0001c0001t0003g0102
a0001c0001t0003g0127
a0001c0001t0011g0011
a0001c0001t0011g0012
a0001c0001t0021g0034
a0001c0001t0026g0048
a0004c0005t0001g0018
a0006c0008t0001g0089
 96 HG00099.hp2
HG00280.hp1
HG00609.hp1
others(93): Show 
HG00099.hp2
HG00280.hp1
HG00609.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01071.hp1
HG01099.hp2
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01934.hp2
HG01981.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02135.hp2
HG02148.hp2
HG02559.hp2
HG02698.hp2
HG02735.hp2
HG02818.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp2
HG03492.hp1
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18940.hp1
NA18942.hp1
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA19005.hp2
NA19007.hp1
NA19043.hp1
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19079.hp2
NA19084.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.1842+1950C>T
c.1842+1950C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57262724
chr3:57262794 G
G
 T
T
 1 a0001c0001t0025g0192
a0001c0001t0025g0192
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.1842+2020G>T
c.1842+2020G>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57262794
chr3:57262809 A
A
 C
C
 35 a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
others(32): Show 
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0005g0009
a0001c0001t0005g0122
a0001c0001t0005g0167
a0001c0001t0005g0168
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0014g0029
a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0001t0023g0195
a0001c0001t0024g0187
a0001c0001t0025g0192
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
a0007c0010t0004g0189
 43 HG01167.hp2
HG01169.hp2
HG01891.hp1
others(40): Show 
HG01167.hp2
HG01169.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02055.hp1
HG02109.hp2
HG02258.hp1
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
NA18522.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1842+2035A>C
c.1842+2035A>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57262809
chr3:57262810 AGGGGTGT
others(3): Show 
AGGGGTGTGTG
 A
A
 1 a0001c0001t0001g0035
a0001c0001t0001g0035
 1 NA18988.hp2
NA18988.hp2
 intron_variant MODIFIER c.1842+2037_1842+204
others(14): Show 
c.1842+2037_1842+2046delGGGGTGTGTG
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57262810
chr3:57262813 G
G
 GGT
GGT
 3 a0001c0001t0002g0090
a0001c0001t0002g0114
a0001c0001t0002g0145
a0001c0001t0002g0090
a0001c0001t0002g0114
a0001c0001t0002g0145
 3 HG02809.hp1
HG03041.hp1
HG03195.hp2
HG02809.hp1
HG03041.hp1
HG03195.hp2
 intron_variant MODIFIER c.1842+2072_1842+207
others(6): Show 
c.1842+2072_1842+2073dupGT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 INFO_REALIGN_3_PRIME chr3 57262813
chr3:57262813 GGTGT
GGTGT
 G
G
 12 a0001c0001t0002g0112
a0001c0001t0002g0160
a0001c0001t0002g0166
others(9): Show 
a0001c0001t0002g0112
a0001c0001t0002g0160
a0001c0001t0002g0166
a0001c0001t0002g0172
a0001c0001t0012g0032
a0001c0001t0012g0092
a0001c0001t0019g0104
a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
a0001c0004t0013g0155
a0001c0004t0013g0158
 12 HG00639.hp1
HG00642.hp2
HG01109.hp1
others(9): Show 
HG00639.hp1
HG00642.hp2
HG01109.hp1
HG01243.hp1
HG02451.hp1
HG02717.hp1
HG02976.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp2
HG04228.hp2
NA19030.hp1
 intron_variant MODIFIER c.1842+2070_1842+207
others(8): Show 
c.1842+2070_1842+2073delGTGT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 INFO_REALIGN_3_PRIME chr3 57262813
chr3:57262813 GGTGTGT
GGTGTGT
 G
G
 89 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
others(86): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0181
a0001c0001t0002g0093
a0001c0001t0003g0022
a0001c0001t0003g0102
a0001c0001t0003g0127
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0005g0009
a0001c0001t0005g0122
a0001c0001t0005g0167
a0001c0001t0005g0168
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0011g0011
a0001c0001t0011g0012
a0001c0001t0014g0029
a0001c0001t0021g0034
a0001c0001t0026g0048
a0002c0002t0003g0108
a0002c0002t0003g0161
a0004c0005t0001g0018
a0006c0008t0001g0089
 119 HG00099.hp2
HG00280.hp1
HG00609.hp1
others(116): Show 
HG00099.hp2
HG00280.hp1
HG00609.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01099.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01981.hp1
HG01993.hp2
HG02040.hp2
HG02055.hp1
HG02080.hp1
HG02080.hp2
HG02135.hp2
HG02148.hp2
HG02258.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03540.hp1
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18940.hp1
NA18942.hp1
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18962.hp1
NA18962.hp2
NA18968.hp1
NA18968.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp1
NA18986.hp2
NA19007.hp1
NA19043.hp1
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19084.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1842+2068_1842+207
others(10): Show 
c.1842+2068_1842+2073delGTGTGT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 INFO_REALIGN_3_PRIME chr3 57262813
chr3:57262813 GGTGTGTG
others(1): Show 
GGTGTGTGT
 G
G
 38 a0001c0001t0003g0002
a0001c0001t0003g0024
a0001c0001t0003g0095
others(35): Show 
a0001c0001t0003g0002
a0001c0001t0003g0024
a0001c0001t0003g0095
a0001c0001t0003g0096
a0001c0001t0003g0097
a0001c0001t0003g0099
a0001c0001t0003g0107
a0001c0001t0003g0109
a0001c0001t0003g0126
a0001c0001t0003g0129
a0001c0001t0003g0162
a0001c0001t0003g0169
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0001t0022g0024
a0001c0001t0023g0195
a0001c0001t0024g0187
a0001c0001t0025g0192
a0002c0002t0003g0004
a0002c0002t0003g0005
a0002c0002t0003g0021
a0002c0002t0003g0056
a0002c0002t0003g0094
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0111
a0002c0002t0003g0125
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
a0007c0010t0004g0189
 51 HG00280.hp2
HG01099.hp1
HG01192.hp2
others(48): Show 
HG00280.hp2
HG01099.hp1
HG01192.hp2
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp1
HG01934.hp1
HG01993.hp1
HG02109.hp1
HG02109.hp2
HG02148.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02630.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp2
NA19043.hp2
NA20129.hp1
NA20300.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1842+2066_1842+207
others(12): Show 
c.1842+2066_1842+2073delGTGTGTGT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 INFO_REALIGN_3_PRIME chr3 57262813
chr3:57262813 GGTGTGTG
others(11): Show 
GGTGTGTGTGTGTGTGTGT
 G
G
 5 a0001c0001t0001g0014
a0001c0001t0001g0043
a0001c0001t0001g0044
others(2): Show 
a0001c0001t0001g0014
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0081
 6 HG01934.hp2
HG02040.hp1
NA18966.hp1
others(3): Show 
HG01934.hp2
HG02040.hp1
NA18966.hp1
NA18988.hp1
NA19005.hp2
NA19078.hp1
 intron_variant MODIFIER c.1842+2056_1842+207
others(22): Show 
c.1842+2056_1842+2073delGTGTGTGTGTGTGTGTGT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 INFO_REALIGN_3_PRIME chr3 57262813
chr3:57262846 G
G
 A
A
 5 a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
others(2): Show 
a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
a0001c0004t0013g0155
a0001c0004t0013g0158
 5 HG01109.hp1
HG02451.hp1
HG02717.hp1
others(2): Show 
HG01109.hp1
HG02451.hp1
HG02717.hp1
HG02976.hp1
HG03579.hp2
 intron_variant MODIFIER c.1842+2072G>A
c.1842+2072G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57262846
chr3:57262848 A
A
 G
G
 1 a0001c0001t0002g0144
a0001c0001t0002g0144
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.1842+2074A>G
c.1842+2074A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57262848
chr3:57262851 C
C
 T
T
 1 a0001c0001t0002g0144
a0001c0001t0002g0144
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.1842+2077C>T
c.1842+2077C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57262851
chr3:57262852 AT
AT
 A
A
 197 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0006
others(194): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0181
a0001c0001t0002g0006
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0027
a0001c0001t0002g0090
a0001c0001t0002g0093
a0001c0001t0002g0103
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0128
a0001c0001t0002g0130
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0142
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0146
a0001c0001t0002g0147
a0001c0001t0002g0148
a0001c0001t0002g0149
a0001c0001t0002g0150
a0001c0001t0002g0151
a0001c0001t0002g0152
a0001c0001t0002g0153
a0001c0001t0002g0154
a0001c0001t0002g0160
a0001c0001t0002g0163
a0001c0001t0002g0170
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0173
a0001c0001t0002g0174
a0001c0001t0002g0175
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0178
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0002g0196
a0001c0001t0003g0002
a0001c0001t0003g0022
a0001c0001t0003g0024
a0001c0001t0003g0095
a0001c0001t0003g0096
a0001c0001t0003g0097
a0001c0001t0003g0099
a0001c0001t0003g0102
a0001c0001t0003g0107
a0001c0001t0003g0109
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0129
a0001c0001t0003g0162
a0001c0001t0003g0169
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0005g0009
a0001c0001t0005g0122
a0001c0001t0005g0167
a0001c0001t0005g0168
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0007g0020
a0001c0001t0007g0110
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0011g0011
a0001c0001t0011g0012
a0001c0001t0012g0032
a0001c0001t0012g0092
a0001c0001t0014g0029
a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0001t0019g0104
a0001c0001t0020g0091
a0001c0001t0021g0034
a0001c0001t0022g0024
a0001c0001t0023g0195
a0001c0001t0024g0187
a0001c0001t0025g0192
a0001c0001t0026g0048
a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
a0001c0004t0013g0155
a0001c0004t0013g0158
a0001c0009t0002g0100
a0001c0011t0002g0132
a0002c0002t0003g0004
a0002c0002t0003g0005
a0002c0002t0003g0021
a0002c0002t0003g0056
a0002c0002t0003g0094
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0111
a0002c0002t0003g0125
a0002c0002t0003g0161
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
a0004c0005t0001g0018
a0005c0007t0002g0197
a0006c0008t0001g0089
a0007c0010t0004g0189
 247 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(244): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19084.hp1
NA19084.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1842+2093delT
c.1842+2093delT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 INFO_REALIGN_3_PRIME chr3 57262852
chr3:57262867 T
T
 C
C
 5 a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
others(2): Show 
a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
a0001c0004t0013g0155
a0001c0004t0013g0158
 5 HG01109.hp1
HG02451.hp1
HG02717.hp1
others(2): Show 
HG01109.hp1
HG02451.hp1
HG02717.hp1
HG02976.hp1
HG03579.hp2
 intron_variant MODIFIER c.1842+2093T>C
c.1842+2093T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57262867
chr3:57262955 G
G
 A
A
 2 a0001c0001t0012g0032
a0001c0001t0012g0092
a0001c0001t0012g0032
a0001c0001t0012g0092
 2 HG00639.hp1
HG03669.hp1
HG00639.hp1
HG03669.hp1
 intron_variant MODIFIER c.1842+2181G>A
c.1842+2181G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57262955
chr3:57263034 A
A
 G
G
 1 a0001c0001t0015g0185
a0001c0001t0015g0185
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.1842+2260A>G
c.1842+2260A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57263034
chr3:57263142 C
C
 T
T
 1 a0001c0001t0025g0192
a0001c0001t0025g0192
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.1842+2368C>T
c.1842+2368C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57263142
chr3:57263157 A
A
 G
G
 1 a0001c0001t0008g0124
a0001c0001t0008g0124
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.1842+2383A>G
c.1842+2383A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57263157
chr3:57263203 C
C
 T
T
 2 a0001c0004t0013g0155
a0001c0004t0013g0158
a0001c0004t0013g0155
a0001c0004t0013g0158
 2 HG02451.hp1
HG03579.hp2
HG02451.hp1
HG03579.hp2
 intron_variant MODIFIER c.1842+2429C>T
c.1842+2429C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57263203
chr3:57263362 A
A
 AT
AT
 7 a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0004t0009g0156
others(4): Show 
a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
a0001c0004t0013g0155
a0001c0004t0013g0158
 7 HG01109.hp1
HG02451.hp1
HG02486.hp1
others(4): Show 
HG01109.hp1
HG02451.hp1
HG02486.hp1
HG02717.hp1
HG02976.hp1
HG03516.hp1
HG03579.hp2
 intron_variant MODIFIER c.1842+2600dupT
c.1842+2600dupT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 INFO_REALIGN_3_PRIME chr3 57263362
chr3:57263559 G
G
 A
A
 26 a0001c0001t0003g0002
a0001c0001t0003g0024
a0001c0001t0003g0095
others(23): Show 
a0001c0001t0003g0002
a0001c0001t0003g0024
a0001c0001t0003g0095
a0001c0001t0003g0096
a0001c0001t0003g0097
a0001c0001t0003g0099
a0001c0001t0003g0107
a0001c0001t0003g0109
a0001c0001t0003g0126
a0001c0001t0003g0129
a0001c0001t0003g0162
a0001c0001t0003g0169
a0001c0001t0022g0024
a0002c0002t0003g0004
a0002c0002t0003g0005
a0002c0002t0003g0021
a0002c0002t0003g0056
a0002c0002t0003g0094
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0111
a0002c0002t0003g0125
a0002c0002t0003g0161
 38 HG00280.hp2
HG00738.hp2
HG01099.hp1
others(35): Show 
HG00280.hp2
HG00738.hp2
HG01099.hp1
HG01192.hp2
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp1
HG01993.hp1
HG02109.hp1
HG02148.hp1
HG02280.hp2
HG02451.hp2
HG02895.hp1
HG02896.hp1
HG02976.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03239.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp2
NA19043.hp2
NA20300.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1842+2785G>A
c.1842+2785G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57263559
chr3:57263590 C
C
 G
G
 1 a0001c0001t0004g0200
a0001c0001t0004g0200
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.1842+2816C>G
c.1842+2816C>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57263590
chr3:57263637 ACATTTTC
others(6): Show 
ACATTTTCTTTATC
 A
A
 35 a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
others(32): Show 
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0005g0009
a0001c0001t0005g0122
a0001c0001t0005g0167
a0001c0001t0005g0168
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0014g0029
a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0001t0023g0195
a0001c0001t0024g0187
a0001c0001t0025g0192
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
a0007c0010t0004g0189
 43 HG01167.hp2
HG01169.hp2
HG01891.hp1
others(40): Show 
HG01167.hp2
HG01169.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02055.hp1
HG02109.hp2
HG02258.hp1
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
NA18522.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1842+2880_1842+289
others(17): Show 
c.1842+2880_1842+2892delTTTCTTTATCCAT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 INFO_REALIGN_3_PRIME chr3 57263637
chr3:57263709 G
G
 A
A
 1 a0001c0001t0012g0092
a0001c0001t0012g0092
 1 HG00639.hp1
HG00639.hp1
 intron_variant MODIFIER c.1842+2935G>A
c.1842+2935G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57263709
chr3:57263712 G
G
 A
A
 1 a0001c0001t0002g0182
a0001c0001t0002g0182
 1 HG01257.hp2
HG01257.hp2
 intron_variant MODIFIER c.1842+2938G>A
c.1842+2938G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57263712
chr3:57263725 TTG
TTG
 T
T
 2 a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0001t0015g0185
a0001c0001t0015g0188
 2 HG02486.hp1
HG03516.hp1
HG02486.hp1
HG03516.hp1
 intron_variant MODIFIER c.1842+2963_1842+296
others(6): Show 
c.1842+2963_1842+2964delGT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 INFO_REALIGN_3_PRIME chr3 57263725
chr3:57263765 GT
GT
 G
G
 36 a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
others(33): Show 
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0005g0009
a0001c0001t0005g0122
a0001c0001t0005g0168
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0012g0032
a0001c0001t0012g0092
a0001c0001t0014g0029
a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0001t0023g0195
a0001c0001t0024g0187
a0001c0001t0025g0192
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
a0007c0010t0004g0189
 44 HG00639.hp1
HG01167.hp2
HG01169.hp2
others(41): Show 
HG00639.hp1
HG01167.hp2
HG01169.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02109.hp2
HG02258.hp1
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03669.hp1
NA18522.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1842+3005delT
c.1842+3005delT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 INFO_REALIGN_3_PRIME chr3 57263765
chr3:57263768 T
T
 G
G
 26 a0001c0001t0003g0002
a0001c0001t0003g0024
a0001c0001t0003g0095
others(23): Show 
a0001c0001t0003g0002
a0001c0001t0003g0024
a0001c0001t0003g0095
a0001c0001t0003g0096
a0001c0001t0003g0097
a0001c0001t0003g0099
a0001c0001t0003g0107
a0001c0001t0003g0109
a0001c0001t0003g0126
a0001c0001t0003g0129
a0001c0001t0003g0162
a0001c0001t0003g0169
a0001c0001t0022g0024
a0002c0002t0003g0004
a0002c0002t0003g0005
a0002c0002t0003g0021
a0002c0002t0003g0056
a0002c0002t0003g0094
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0111
a0002c0002t0003g0125
a0002c0002t0003g0161
 38 HG00280.hp2
HG00738.hp2
HG01099.hp1
others(35): Show 
HG00280.hp2
HG00738.hp2
HG01099.hp1
HG01192.hp2
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp1
HG01993.hp1
HG02109.hp1
HG02148.hp1
HG02280.hp2
HG02451.hp2
HG02895.hp1
HG02896.hp1
HG02976.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03239.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp2
NA19043.hp2
NA20300.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1842+2994T>G
c.1842+2994T>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57263768
chr3:57263769 T
T
 G
G
 2 a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0001t0015g0185
a0001c0001t0015g0188
 2 HG02486.hp1
HG03516.hp1
HG02486.hp1
HG03516.hp1
 intron_variant MODIFIER c.1842+2995T>G
c.1842+2995T>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57263769
chr3:57264157 T
T
 TATA
TATA
 1 a0001c0001t0001g0007
a0001c0001t0001g0007
 3 HG02896.hp2
HG02897.hp1
HG06807.hp2
HG02896.hp2
HG02897.hp1
HG06807.hp2
 intron_variant MODIFIER c.1842+3383_1842+338
others(7): Show 
c.1842+3383_1842+3384insATA
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57264157
chr3:57264376 T
T
 C
C
 1 a0002c0002t0003g0021
a0002c0002t0003g0021
 2 HG01515.hp1
HG01517.hp1
HG01515.hp1
HG01517.hp1
 intron_variant MODIFIER c.1843-3366T>C
c.1843-3366T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57264376
chr3:57264560 A
A
 T
T
 1 a0001c0001t0001g0054
a0001c0001t0001g0054
 1 NA18962.hp1
NA18962.hp1
 intron_variant MODIFIER c.1843-3182A>T
c.1843-3182A>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57264560
chr3:57264563 T
T
 A
A
 5 a0002c0002t0003g0004
a0002c0002t0003g0098
a0002c0002t0003g0105
others(2): Show 
a0002c0002t0003g0004
a0002c0002t0003g0098
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
 8 HG00280.hp2
HG01192.hp2
HG01261.hp2
others(5): Show 
HG00280.hp2
HG01192.hp2
HG01261.hp2
HG01358.hp2
HG01993.hp1
HG02148.hp1
HG03704.hp1
NA20905.hp1
 intron_variant MODIFIER c.1843-3179T>A
c.1843-3179T>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57264563
chr3:57264564 A
A
 T
T
 2 a0001c0001t0002g0103
a0001c0006t0002g0120
a0001c0001t0002g0103
a0001c0006t0002g0120
 2 HG03209.hp1
HG03927.hp2
HG03209.hp1
HG03927.hp2
 intron_variant MODIFIER c.1843-3178A>T
c.1843-3178A>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57264564
chr3:57264582 TA
TA
 T
T
 35 a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
others(32): Show 
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0005g0009
a0001c0001t0005g0122
a0001c0001t0005g0167
a0001c0001t0005g0168
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0014g0029
a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0001t0023g0195
a0001c0001t0024g0187
a0001c0001t0025g0192
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
a0007c0010t0004g0189
 43 HG01167.hp2
HG01169.hp2
HG01891.hp1
others(40): Show 
HG01167.hp2
HG01169.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02055.hp1
HG02109.hp2
HG02258.hp1
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
NA18522.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1843-3151delA
c.1843-3151delA
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 INFO_REALIGN_3_PRIME chr3 57264582
chr3:57264591 AT
AT
 A
A
 3 a0001c0001t0002g0114
a0001c0001t0002g0163
a0001c0001t0003g0099
a0001c0001t0002g0114
a0001c0001t0002g0163
a0001c0001t0003g0099
 3 HG01109.hp2
HG02280.hp2
HG03041.hp1
HG01109.hp2
HG02280.hp2
HG03041.hp1
 intron_variant MODIFIER c.1843-3144delT
c.1843-3144delT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 INFO_REALIGN_3_PRIME chr3 57264591
chr3:57264592 T
T
 A
A
 25 a0001c0001t0003g0002
a0001c0001t0003g0024
a0001c0001t0003g0095
others(22): Show 
a0001c0001t0003g0002
a0001c0001t0003g0024
a0001c0001t0003g0095
a0001c0001t0003g0096
a0001c0001t0003g0097
a0001c0001t0003g0107
a0001c0001t0003g0109
a0001c0001t0003g0126
a0001c0001t0003g0129
a0001c0001t0003g0162
a0001c0001t0003g0169
a0001c0001t0022g0024
a0002c0002t0003g0004
a0002c0002t0003g0005
a0002c0002t0003g0021
a0002c0002t0003g0056
a0002c0002t0003g0094
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0111
a0002c0002t0003g0125
a0002c0002t0003g0161
 37 HG00280.hp2
HG00738.hp2
HG01099.hp1
others(34): Show 
HG00280.hp2
HG00738.hp2
HG01099.hp1
HG01192.hp2
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp1
HG01993.hp1
HG02109.hp1
HG02148.hp1
HG02451.hp2
HG02895.hp1
HG02896.hp1
HG02976.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03239.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp2
NA19043.hp2
NA20300.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1843-3150T>A
c.1843-3150T>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57264592
chr3:57264598 T
T
 A
A
 111 a0001c0001t0001g0006
a0001c0001t0001g0013
a0001c0001t0001g0037
others(108): Show 
a0001c0001t0001g0006
a0001c0001t0001g0013
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0068
a0001c0001t0002g0006
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0027
a0001c0001t0002g0090
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0128
a0001c0001t0002g0130
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0142
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0146
a0001c0001t0002g0147
a0001c0001t0002g0148
a0001c0001t0002g0149
a0001c0001t0002g0150
a0001c0001t0002g0151
a0001c0001t0002g0152
a0001c0001t0002g0153
a0001c0001t0002g0154
a0001c0001t0002g0163
a0001c0001t0002g0170
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0173
a0001c0001t0002g0174
a0001c0001t0002g0175
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0178
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0002g0196
a0001c0001t0003g0002
a0001c0001t0003g0095
a0001c0001t0003g0096
a0001c0001t0003g0097
a0001c0001t0003g0099
a0001c0001t0003g0107
a0001c0001t0003g0109
a0001c0001t0003g0129
a0001c0001t0003g0162
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0005g0009
a0001c0001t0005g0122
a0001c0001t0005g0167
a0001c0001t0005g0168
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0012g0032
a0001c0001t0012g0092
a0001c0001t0016g0119
a0001c0001t0020g0091
a0001c0001t0024g0187
a0001c0001t0025g0192
a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
a0001c0004t0013g0155
a0001c0004t0013g0158
a0001c0009t0002g0100
a0001c0011t0002g0132
a0002c0002t0003g0004
a0002c0002t0003g0005
a0002c0002t0003g0021
a0002c0002t0003g0056
a0002c0002t0003g0094
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0111
a0002c0002t0003g0125
a0002c0002t0003g0161
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
a0005c0007t0002g0197
a0007c0010t0004g0189
 133 HG00099.hp1
HG00280.hp2
HG00544.hp1
others(130): Show 
HG00099.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp2
HG00639.hp1
HG00642.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01517.hp1
HG01928.hp1
HG01981.hp2
HG01993.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02148.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03834.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18940.hp2
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18966.hp2
NA18978.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18986.hp1
NA19005.hp1
NA19007.hp2
NA19030.hp2
NA19043.hp2
NA19064.hp1
NA19066.hp2
NA19078.hp2
NA19084.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1843-3144T>A
c.1843-3144T>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57264598
chr3:57264599 A
A
 T
T
 5 a0001c0001t0001g0049
a0001c0001t0001g0078
a0001c0001t0001g0080
others(2): Show 
a0001c0001t0001g0049
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0015g0185
a0001c0001t0015g0188
 5 HG02486.hp1
HG03516.hp1
HG04184.hp1
others(2): Show 
HG02486.hp1
HG03516.hp1
HG04184.hp1
NA19074.hp1
NA19090.hp1
 intron_variant MODIFIER c.1843-3143A>T
c.1843-3143A>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57264599
chr3:57264638 T
T
 A
A
 7 a0001c0001t0005g0009
a0001c0001t0005g0122
a0001c0001t0005g0167
others(4): Show 
a0001c0001t0005g0009
a0001c0001t0005g0122
a0001c0001t0005g0167
a0001c0001t0005g0168
a0001c0001t0006g0203
a0001c0001t0006g0209
a0001c0001t0006g0210
 9 HG02055.hp1
HG02258.hp1
HG02622.hp1
others(6): Show 
HG02055.hp1
HG02258.hp1
HG02622.hp1
HG02818.hp2
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03486.hp1
NA21309.hp1
 intron_variant MODIFIER c.1843-3104T>A
c.1843-3104T>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57264638
chr3:57264742 C
C
 T
T
 1 a0001c0001t0004g0208
a0001c0001t0004g0208
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.1843-3000C>T
c.1843-3000C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57264742
chr3:57264743 G
G
 A
A
 3 a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0023g0195
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0023g0195
 4 HG01934.hp1
HG02615.hp1
HG02886.hp2
others(1): Show 
HG01934.hp1
HG02615.hp1
HG02886.hp2
HG03130.hp2
 intron_variant MODIFIER c.1843-2999G>A
c.1843-2999G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57264743
chr3:57264801 C
C
 CT
CT
 6 a0001c0001t0001g0047
a0001c0001t0003g0126
a0001c0001t0005g0009
others(3): Show 
a0001c0001t0001g0047
a0001c0001t0003g0126
a0001c0001t0005g0009
a0001c0001t0005g0122
a0001c0001t0005g0167
a0001c0001t0005g0168
 8 HG02055.hp1
HG02258.hp1
HG02622.hp1
others(5): Show 
HG02055.hp1
HG02258.hp1
HG02622.hp1
HG03130.hp1
HG03486.hp1
HG03579.hp1
HG04115.hp2
NA21309.hp1
 intron_variant MODIFIER c.1843-2925dupT
c.1843-2925dupT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 INFO_REALIGN_3_PRIME chr3 57264801
chr3:57265127 C
C
 T
T
 2 a0001c0001t0012g0032
a0001c0001t0012g0092
a0001c0001t0012g0032
a0001c0001t0012g0092
 2 HG00639.hp1
HG03669.hp1
HG00639.hp1
HG03669.hp1
 intron_variant MODIFIER c.1843-2615C>T
c.1843-2615C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57265127
chr3:57265190 C
C
 T
T
 2 a0001c0001t0001g0036
a0001c0001t0001g0071
a0001c0001t0001g0036
a0001c0001t0001g0071
 2 HG00642.hp1
HG04228.hp1
HG00642.hp1
HG04228.hp1
 intron_variant MODIFIER c.1843-2552C>T
c.1843-2552C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57265190
chr3:57265218 G
G
 A
A
 1 a0001c0001t0001g0064
a0001c0001t0001g0064
 1 NA18979.hp2
NA18979.hp2
 intron_variant MODIFIER c.1843-2524G>A
c.1843-2524G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57265218
chr3:57265436 C
C
 T
T
 1 a0001c0001t0002g0149
a0001c0001t0002g0149
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.1843-2306C>T
c.1843-2306C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57265436
chr3:57265488 T
T
 C
C
 2 a0001c0001t0012g0032
a0001c0001t0012g0092
a0001c0001t0012g0032
a0001c0001t0012g0092
 2 HG00639.hp1
HG03669.hp1
HG00639.hp1
HG03669.hp1
 intron_variant MODIFIER c.1843-2254T>C
c.1843-2254T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57265488
chr3:57265528 ATTACT
ATTACT
 A
A
 2 a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0001t0015g0185
a0001c0001t0015g0188
 2 HG02486.hp1
HG03516.hp1
HG02486.hp1
HG03516.hp1
 intron_variant MODIFIER c.1843-2210_1843-220
others(9): Show 
c.1843-2210_1843-2206delCTTTA
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 INFO_REALIGN_3_PRIME chr3 57265528
chr3:57265540 A
A
 C
C
 2 a0001c0004t0013g0155
a0001c0004t0013g0158
a0001c0004t0013g0155
a0001c0004t0013g0158
 2 HG02451.hp1
HG03579.hp2
HG02451.hp1
HG03579.hp2
 intron_variant MODIFIER c.1843-2202A>C
c.1843-2202A>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57265540
chr3:57265655 G
G
 A
A
 1 a0001c0001t0003g0107
a0001c0001t0003g0107
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.1843-2087G>A
c.1843-2087G>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57265655
chr3:57265919 T
T
 C
C
 1 a0001c0001t0001g0015
a0001c0001t0001g0015
 2 HG02698.hp2
NA20805.hp2
HG02698.hp2
NA20805.hp2
 intron_variant MODIFIER c.1843-1823T>C
c.1843-1823T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57265919
chr3:57266635 T
T
 C
C
 1 a0001c0001t0001g0049
a0001c0001t0001g0049
 1 NA19074.hp1
NA19074.hp1
 intron_variant MODIFIER c.1843-1107T>C
c.1843-1107T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57266635
chr3:57266804 A
A
 G
G
 5 a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
others(2): Show 
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
 5 HG02109.hp2
HG02809.hp2
HG02886.hp1
others(2): Show 
HG02109.hp2
HG02809.hp2
HG02886.hp1
HG02922.hp1
NA20129.hp1
 intron_variant MODIFIER c.1843-938A>G
c.1843-938A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57266804
chr3:57267028 A
A
 AT
AT
 73 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
others(70): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0181
a0001c0001t0002g0093
a0001c0001t0002g0112
a0001c0001t0003g0022
a0001c0001t0003g0102
a0001c0001t0003g0127
a0001c0001t0011g0011
a0001c0001t0011g0012
a0001c0001t0021g0034
a0001c0001t0026g0048
a0004c0005t0001g0018
a0006c0008t0001g0089
 97 HG00099.hp2
HG00280.hp1
HG00609.hp1
others(94): Show 
HG00099.hp2
HG00280.hp1
HG00609.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01071.hp1
HG01099.hp2
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01934.hp2
HG01981.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02135.hp2
HG02148.hp2
HG02559.hp2
HG02698.hp2
HG02735.hp2
HG02818.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp2
HG03492.hp1
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18940.hp1
NA18942.hp1
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA19005.hp2
NA19007.hp1
NA19043.hp1
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19074.hp2
NA19078.hp1
NA19079.hp1
NA19079.hp2
NA19084.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.1843-713dupT
c.1843-713dupT
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 INFO_REALIGN_3_PRIME chr3 57267028
chr3:57267119 A
A
 T
T
 1 a0007c0010t0004g0189
a0007c0010t0004g0189
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1843-623A>T
c.1843-623A>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 19/21 chr3 57267119
chr3:57267857 C
C
 T
T
 1 a0001c0001t0014g0029
a0001c0001t0014g0029
 2 HG01891.hp2
HG02630.hp2
HG01891.hp2
HG02630.hp2
 intron_variant MODIFIER c.1893+65C>T
c.1893+65C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 20/21 chr3 57267857
chr3:57267927 A
A
 G
G
 4 a0001c0001t0004g0031
a0001c0001t0004g0204
a0001c0001t0004g0208
others(1): Show 
a0001c0001t0004g0031
a0001c0001t0004g0204
a0001c0001t0004g0208
a0001c0001t0006g0205
 5 HG02647.hp2
HG03486.hp2
HG03540.hp1
others(2): Show 
HG02647.hp2
HG03486.hp2
HG03540.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.1893+135A>G
c.1893+135A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 20/21 chr3 57267927
chr3:57267966 C
C
 T
T
 1 a0001c0001t0001g0046
a0001c0001t0001g0046
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.1893+174C>T
c.1893+174C>T
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 20/21 chr3 57267966
chr3:57268092 C
C
 CA
CA
 28 a0001c0001t0002g0103
a0001c0001t0002g0160
a0001c0001t0004g0010
others(25): Show 
a0001c0001t0002g0103
a0001c0001t0002g0160
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0005g0009
a0001c0001t0005g0122
a0001c0001t0005g0167
a0001c0001t0005g0168
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0007g0020
a0001c0001t0007g0110
a0001c0001t0014g0029
a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0001t0019g0104
 36 HG01167.hp2
HG01169.hp2
HG01243.hp1
others(33): Show 
HG01167.hp2
HG01169.hp2
HG01243.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02258.hp1
HG02486.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02818.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
NA18522.hp1
NA19030.hp1
NA19240.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1894-294dupA
c.1894-294dupA
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 20/21 INFO_REALIGN_3_PRIME chr3 57268092
chr3:57268851 A
A
 G
G
 3 a0001c0001t0004g0030
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0030
a0001c0001t0004g0206
a0001c0001t0004g0207
 4 HG01167.hp2
HG01169.hp2
HG02895.hp2
others(1): Show 
HG01167.hp2
HG01169.hp2
HG02895.hp2
HG02897.hp2
 intron_variant MODIFIER c.1983+364A>G
c.1983+364A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 21/21 chr3 57268851
chr3:57268916 T
T
 C
C
 1 a0001c0001t0001g0051
a0001c0001t0001g0051
 1 NA19064.hp2
NA19064.hp2
 intron_variant MODIFIER c.1983+429T>C
c.1983+429T>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 21/21 chr3 57268916
chr3:57268926 A
A
 G
G
 1 a0001c0001t0002g0163
a0001c0001t0002g0163
 1 HG01109.hp2
HG01109.hp2
 intron_variant MODIFIER c.1983+439A>G
c.1983+439A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 21/21 chr3 57268926
chr3:57268940 C
C
 G
G
 29 a0001c0001t0003g0002
a0001c0001t0003g0022
a0001c0001t0003g0024
others(26): Show 
a0001c0001t0003g0002
a0001c0001t0003g0022
a0001c0001t0003g0024
a0001c0001t0003g0095
a0001c0001t0003g0096
a0001c0001t0003g0097
a0001c0001t0003g0099
a0001c0001t0003g0102
a0001c0001t0003g0107
a0001c0001t0003g0109
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0129
a0001c0001t0003g0162
a0001c0001t0003g0169
a0001c0001t0022g0024
a0002c0002t0003g0004
a0002c0002t0003g0005
a0002c0002t0003g0021
a0002c0002t0003g0056
a0002c0002t0003g0094
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0111
a0002c0002t0003g0125
a0002c0002t0003g0161
 42 HG00280.hp2
HG00738.hp2
HG01099.hp1
others(39): Show 
HG00280.hp2
HG00738.hp2
HG01099.hp1
HG01099.hp2
HG01192.hp2
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp1
HG01884.hp2
HG01993.hp1
HG02109.hp1
HG02148.hp1
HG02280.hp2
HG02451.hp2
HG02895.hp1
HG02896.hp1
HG02976.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03239.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA20300.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1983+453C>G
c.1983+453C>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 21/21 chr3 57268940
chr3:57268965 T
T
 A
A
 35 a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
others(32): Show 
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0005g0009
a0001c0001t0005g0122
a0001c0001t0005g0167
a0001c0001t0005g0168
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0014g0029
a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0001t0023g0195
a0001c0001t0024g0187
a0001c0001t0025g0192
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
a0007c0010t0004g0189
 43 HG01167.hp2
HG01169.hp2
HG01891.hp1
others(40): Show 
HG01167.hp2
HG01169.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02055.hp1
HG02109.hp2
HG02258.hp1
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
NA18522.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1983+478T>A
c.1983+478T>A
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 21/21 chr3 57268965
chr3:57269066 G
G
 C
C
 1 a0001c0001t0001g0039
a0001c0001t0001g0039
 1 NA19079.hp1
NA19079.hp1
 intron_variant MODIFIER c.1984-475G>C
c.1984-475G>C
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 21/21 chr3 57269066
chr3:57269178 A
A
 G
G
 1 a0002c0002t0003g0021
a0002c0002t0003g0021
 2 HG01515.hp1
HG01517.hp1
HG01515.hp1
HG01517.hp1
 intron_variant MODIFIER c.1984-363A>G
c.1984-363A>G
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 21/21 chr3 57269178
chr3:57269450 A
A
 AGAATT
AGAATT
 70 a0001c0001t0003g0002
a0001c0001t0003g0022
a0001c0001t0003g0024
others(67): Show 
a0001c0001t0003g0002
a0001c0001t0003g0022
a0001c0001t0003g0024
a0001c0001t0003g0095
a0001c0001t0003g0096
a0001c0001t0003g0097
a0001c0001t0003g0099
a0001c0001t0003g0102
a0001c0001t0003g0107
a0001c0001t0003g0109
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0129
a0001c0001t0003g0162
a0001c0001t0003g0169
a0001c0001t0004g0010
a0001c0001t0004g0030
a0001c0001t0004g0031
a0001c0001t0004g0198
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0004g0201
a0001c0001t0004g0202
a0001c0001t0004g0204
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0005g0009
a0001c0001t0005g0122
a0001c0001t0005g0167
a0001c0001t0005g0168
a0001c0001t0006g0203
a0001c0001t0006g0205
a0001c0001t0006g0209
a0001c0001t0006g0210
a0001c0001t0010g0028
a0001c0001t0010g0194
a0001c0001t0014g0029
a0001c0001t0015g0185
a0001c0001t0015g0188
a0001c0001t0020g0091
a0001c0001t0022g0024
a0001c0001t0023g0195
a0001c0001t0024g0187
a0001c0001t0025g0192
a0001c0004t0009g0156
a0001c0004t0009g0157
a0001c0004t0009g0183
a0001c0004t0013g0155
a0001c0004t0013g0158
a0002c0002t0003g0004
a0002c0002t0003g0005
a0002c0002t0003g0021
a0002c0002t0003g0056
a0002c0002t0003g0094
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0111
a0002c0002t0003g0125
a0002c0002t0003g0161
a0003c0003t0004g0159
a0003c0003t0004g0184
a0003c0003t0004g0186
a0003c0003t0004g0190
a0003c0003t0004g0191
a0003c0003t0004g0193
a0007c0010t0004g0189
 91 HG00280.hp2
HG00738.hp2
HG01099.hp1
others(88): Show 
HG00280.hp2
HG00738.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01993.hp1
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02148.hp1
HG02258.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03704.hp1
HG03831.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1984-88_1984-87ins
others(5): Show 
c.1984-88_1984-87insTTGAA
APPL1 ENSG00000157500.12 transcript ENST00000288266.8 protein_coding 21/21 INFO_REALIGN_3_PRIME chr3 57269450

  • 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.