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?   SPTLC3_chr20_13003972_13174103  SPTLC3_chr20_13003972_13174103 (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 55304
ensemblid ENSG00000172296.13
hgncid 16253
symbol SPTLC3
name serine palmitoyltransferase long chain base subunit 3
refseq_nuc NM_018327.4
refseq_prot NP_060797.2
ensembl_nuc ENST00000399002.7
ensembl_prot ENSP00000381968.2
mane_status MANE Select
chr chr20
start 13008972
end 13169103
strand +
ver v1.2
region chr20:13008972-13169103
region5000 chr20:13003972-13174103
regionname0 SPTLC3_chr20_13008972_13169103
regionname5000 SPTLC3_chr20_13003972_13174103

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 0/0 552 217 73 38 77 12 17 57 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0002 1/1 552 62 3 7 44 2 4 34 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0003 0/0 552 5 2 2 0 0 1 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0004 0/0 552 3 0 3 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0005 0/0 552 2 2 0 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0006 0/0 552 1 0 0 0 0 1 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0007 0/0 552 1 0 0 0 0 1 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0008 0/0 552 1 0 0 1 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 0/0 1659 138 45 22 55 8 8 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
c0002 0/1 1659 47 3 6 31 2 4 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
c0003 0/0 1659 34 12 6 11 1 4 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
c0004 0/0 1659 21 2 6 9 1 3 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
c0005 0/0 1659 19 12 3 0 2 2 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
c0006 0/0 1659 13 0 1 12 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
c0007 0/0 1659 5 2 2 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
c0008 0/0 1659 3 0 3 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
c0009 0/0 1659 3 1 0 2 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
c0010 0/0 1659 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
c0011 0/0 1659 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
c0012 0/0 1659 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
c0013 1/0 1659 1 0 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
c0014 0/0 1659 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
c0015 0/0 1659 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
c0016 0/0 1659 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
c0017 0/0 1659 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
c0018 0/0 1659 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 0/0 4533 44 11 5 26 1 1 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0002 0/0 4535 25 0 0 23 0 2 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0003 0/0 4535 23 3 4 14 0 2 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0004 0/0 4533 21 13 0 7 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0005 0/0 4535 20 3 3 14 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0006 0/0 4535 16 2 5 8 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0007 0/0 4535 15 7 3 4 1 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0008 0/0 4533 11 0 1 8 0 2 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0009 0/0 4529 9 1 5 0 2 1 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0010 0/0 4535 9 4 2 1 1 1 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0011 0/0 4520 7 6 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0012 0/0 4520 6 5 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0013 0/1 4529 5 0 3 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0014 0/0 4533 5 0 1 0 2 2 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0015 0/0 4531 5 4 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0016 0/0 4538 4 1 2 0 1 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0017 0/0 4537 3 0 1 1 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0018 0/0 4535 3 0 1 0 2 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0019 0/0 4532 3 1 1 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0020 1/0 4533 3 0 1 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0021 0/0 4533 2 1 0 0 1 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0022 0/0 4535 2 0 2 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0023 0/0 4531 2 2 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0024 0/0 4533 2 0 0 2 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0025 0/0 4529 2 0 0 0 1 1 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0026 0/0 4529 2 2 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0027 0/0 4537 2 2 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0028 0/0 4537 2 0 1 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0029 0/0 4533 2 0 0 0 0 2 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0030 0/0 4529 2 2 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0031 0/0 4535 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0032 0/0 4533 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0033 0/0 4486 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0034 0/0 4534 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0035 0/0 4538 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0036 0/0 4529 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0037 0/0 4537 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0038 0/0 4533 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0039 0/0 4490 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0040 0/0 4535 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0041 0/0 4537 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0042 0/0 4486 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0043 0/0 4535 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0044 0/0 4535 1 0 0 0 1 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0045 0/0 4484 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0046 0/0 4533 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0047 0/0 4529 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0048 0/0 4533 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0049 0/0 4531 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0050 0/0 4533 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0051 0/0 4528 1 0 0 0 1 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0052 0/0 4529 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0053 0/0 4533 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0054 0/0 4535 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0055 0/0 4537 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0056 0/0 4486 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0057 0/0 4488 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0058 0/0 4520 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0059 0/0 4520 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0060 0/0 4535 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0061 0/0 4535 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0062 0/0 4486 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0063 0/0 4533 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0064 0/0 4529 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
t0065 0/0 4528 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0002 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0003 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0004 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0005 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0006 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0007 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0008 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0009 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0010 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0011 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0012 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0013 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0014 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0015 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0016 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0017 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0018 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0019 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0020 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0021 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0022 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0023 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0024 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0025 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0026 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0027 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0028 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0029 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0030 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0031 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0032 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0033 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0034 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0035 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0036 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0037 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0038 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0039 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0040 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0041 0/1 1 0 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0042 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0043 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0044 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0045 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0046 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0047 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0048 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0049 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0050 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0051 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0052 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0053 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0054 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0055 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0056 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0057 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0058 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0059 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0060 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0061 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0062 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0063 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0064 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0065 0/0 1 0 0 0 1 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0066 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0067 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0068 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0069 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0070 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0071 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0072 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0073 0/0 1 0 0 0 1 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0074 0/0 1 0 0 0 1 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0075 0/0 1 0 0 0 1 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0076 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0077 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0078 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0079 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0080 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0081 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0082 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0083 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0084 0/0 1 0 0 0 1 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0085 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0086 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0087 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0088 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0089 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0090 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0091 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0092 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0093 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0094 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0095 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0096 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0097 0/0 1 0 0 0 1 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0098 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0099 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0100 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0101 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0102 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0103 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0104 0/0 1 0 0 0 1 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0105 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0106 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0107 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0108 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0109 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0110 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0111 0/0 1 0 0 0 1 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0112 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0113 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0114 0/0 1 0 0 0 1 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0115 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0116 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0117 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0118 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0119 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0120 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0121 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0122 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0123 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0124 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0125 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0126 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0127 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0128 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0129 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0130 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0131 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0132 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0133 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0134 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0135 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0136 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0137 0/0 1 0 0 0 1 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0138 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0139 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0140 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0141 0/0 1 0 0 0 1 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0142 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0143 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0144 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0145 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0146 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0147 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0148 0/0 1 0 0 0 1 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0149 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0150 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0151 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0152 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0153 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0154 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0155 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0156 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0157 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0158 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0159 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0160 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0161 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0162 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0163 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0164 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0165 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0166 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0167 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0168 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0169 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0170 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0171 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0172 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0173 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0174 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0175 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0176 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0177 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0178 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0179 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0180 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0181 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0182 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0183 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0184 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0185 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0186 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0187 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0188 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0189 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0190 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0191 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0192 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0193 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0194 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0195 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0196 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0197 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0198 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0199 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0200 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0201 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0202 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0203 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0204 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0205 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0206 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0207 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0208 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0209 1/0 1 0 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0210 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0211 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0212 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0213 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0214 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0215 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0216 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0217 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0218 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0219 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0220 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0221 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0222 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0223 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0224 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0225 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0226 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0227 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0228 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0229 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0230 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0231 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0232 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0233 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0234 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0235 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0236 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0237 0/0 1 0 0 0 1 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0238 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0239 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0240 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0241 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0242 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0243 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0244 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0245 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0246 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0247 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0248 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0249 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0250 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0251 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0252 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0253 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0254 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0255 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0256 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0257 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0258 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0259 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0260 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0261 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0262 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0263 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0264 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0265 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0266 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0267 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0268 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0269 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0270 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0271 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0272 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0273 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0274 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0275 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0276 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0277 0/0 1 0 0 0 1 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0278 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0279 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0280 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0281 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0282 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0283 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0284 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0285 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0286 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0287 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0288 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0289 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0290 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0291 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
g0292 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 0/0 1659 138 45 22 55 8 8 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0003 0/0 1659 34 12 6 11 1 4 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0004 0/0 1659 21 2 6 9 1 3 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0005 0/0 1659 19 12 3 0 2 2 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0009 0/0 1659 3 1 0 2 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0012 0/0 1659 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0014 0/0 1659 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0002c0002 0/1 1659 47 3 6 31 2 4 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0002c0006 0/0 1659 13 0 1 12 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0002c0013 1/0 1659 1 0 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0002c0018 0/0 1659 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0003c0007 0/0 1659 5 2 2 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0004c0008 0/0 1659 3 0 3 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0005c0010 0/0 1659 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0005c0011 0/0 1659 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0006c0016 0/0 1659 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0007c0017 0/0 1659 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0008c0015 0/0 1659 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 0/0 6191 35 9 4 21 1 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0001t0002 0/0 6193 9 0 0 9 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0001t0003 0/0 6193 15 2 2 9 0 2 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0001t0004 0/0 6191 16 10 0 5 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0001t0005 0/0 6193 2 1 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0001t0007 0/0 6193 11 7 0 3 1 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0001t0008 0/0 6191 4 0 1 3 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0001t0009 0/0 6187 2 0 0 0 2 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0001t0010 0/0 6193 2 2 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0001t0012 0/0 6178 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0001t0013 0/0 6187 3 0 3 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0001t0014 0/0 6191 4 0 1 0 1 2 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0001t0015 0/0 6189 5 4 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0001t0016 0/0 6196 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0001t0018 0/0 6193 2 0 1 0 1 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0001t0019 0/0 6190 3 1 1 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0001t0020 0/0 6191 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0001t0021 0/0 6191 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0001t0022 0/0 6193 2 0 2 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0001t0027 0/0 6195 2 2 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0001t0030 0/0 6187 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0001t0033 0/0 6144 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0001t0038 0/0 6191 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0001t0039 0/0 6148 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0001t0044 0/0 6193 1 0 0 0 1 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0001t0045 0/0 6142 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0001t0046 0/0 6191 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0001t0050 0/0 6191 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0001t0051 0/0 6186 1 0 0 0 1 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0001t0053 0/0 6191 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0001t0054 0/0 6193 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0001t0055 0/0 6195 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0001t0056 0/0 6144 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0001t0057 0/0 6146 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0001t0059 0/0 6178 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0001t0061 0/0 6193 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0001t0063 0/0 6191 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0003t0005 0/0 6193 7 0 0 7 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0003t0006 0/0 6193 2 0 1 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0003t0010 0/0 6193 6 1 2 1 1 1 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0003t0011 0/0 6178 6 5 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0003t0012 0/0 6178 5 4 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0003t0028 0/0 6195 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0003t0029 0/0 6191 2 0 0 0 0 2 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0003t0032 0/0 6191 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0003t0041 0/0 6195 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0003t0049 0/0 6189 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0003t0058 0/0 6178 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0003t0060 0/0 6193 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0004t0001 0/0 6191 3 0 0 3 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0004t0003 0/0 6193 3 1 0 2 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0004t0009 0/0 6187 5 0 4 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0004t0014 0/0 6191 1 0 0 0 1 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0004t0016 0/0 6196 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0004t0017 0/0 6195 3 0 1 1 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0004t0024 0/0 6191 2 0 0 2 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0004t0040 0/0 6193 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0004t0042 0/0 6144 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0004t0065 0/0 6186 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0005t0001 0/0 6191 2 1 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0005t0003 0/0 6193 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0005t0004 0/0 6191 3 3 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0005t0005 0/0 6193 2 2 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0005t0009 0/0 6187 2 1 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0005t0010 0/0 6193 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0005t0016 0/0 6196 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0005t0018 0/0 6193 1 0 0 0 1 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0005t0020 0/0 6191 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0005t0025 0/0 6187 2 0 0 0 1 1 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0005t0030 0/0 6187 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0005t0047 0/0 6187 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0005t0048 0/0 6191 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0009t0005 0/0 6193 2 0 0 2 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0009t0011 0/0 6178 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0012t0023 0/0 6189 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0001c0014t0005 0/0 6193 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0002c0002t0001 0/0 6191 4 1 1 2 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0002c0002t0002 0/0 6193 14 0 0 12 0 2 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0002c0002t0003 0/0 6193 4 0 1 3 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0002c0002t0004 0/0 6191 2 0 0 2 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0002c0002t0007 0/0 6193 4 0 3 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0002c0002t0008 0/0 6191 7 0 0 5 0 2 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0002c0002t0013 0/1 6187 1 0 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0002c0002t0016 0/0 6196 1 0 0 0 1 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0002c0002t0021 0/0 6191 1 0 0 0 1 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0002c0002t0026 0/0 6187 2 2 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0002c0002t0031 0/0 6193 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0002c0002t0034 0/0 6192 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0002c0002t0035 0/0 6196 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0002c0002t0036 0/0 6187 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0002c0002t0043 0/0 6193 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0002c0002t0052 0/0 6187 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0002c0002t0062 0/0 6144 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0002c0006t0005 0/0 6193 5 0 0 5 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0002c0006t0006 0/0 6193 8 0 1 7 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0002c0013t0020 1/0 6191 1 0 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0002c0018t0002 0/0 6193 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0003c0007t0006 0/0 6193 5 2 2 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0004c0008t0005 0/0 6193 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0004c0008t0006 0/0 6193 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0004c0008t0028 0/0 6195 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0005c0010t0037 0/0 6195 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0005c0011t0023 0/0 6189 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0006c0016t0064 0/0 6187 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0007c0017t0013 0/0 6187 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103
a0008c0015t0002 0/0 6193 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 copy fasta chr20 13003972 13174103

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0052 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0001g0093 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0001g0095 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0001g0096 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0001g0098 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0001g0099 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0001g0100 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0001g0103 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0001g0106 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0001g0108 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0001g0110 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0001g0115 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0001g0117 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0001g0118 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0001g0124 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0001g0127 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0001g0134 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0001g0141 0/0 1 0 0 0 1 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0001g0143 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0001g0144 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0001g0145 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0001g0149 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0001g0150 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0001g0156 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0001g0158 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0001g0159 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0001g0173 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0001g0181 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0001g0182 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0001g0187 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0001g0188 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0001g0203 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0001g0210 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0001g0211 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0001g0292 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0002g0003 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0002g0011 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0002g0015 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0002g0021 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0002g0031 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0002g0032 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0002g0055 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0002g0057 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0002g0067 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0003g0070 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0003g0072 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0003g0076 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0003g0112 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0003g0113 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0003g0123 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0003g0126 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0003g0131 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0003g0133 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0003g0135 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0003g0142 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0003g0157 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0003g0179 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0003g0180 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0003g0192 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0004g0219 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0004g0222 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0004g0225 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0004g0226 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0004g0229 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0004g0233 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0004g0234 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0004g0238 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0004g0242 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0004g0243 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0004g0247 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0004g0251 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0004g0266 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0004g0273 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0004g0288 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0004g0291 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0005g0092 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0005g0128 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0007g0216 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0007g0221 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0007g0228 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0007g0230 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0007g0237 0/0 1 0 0 0 1 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0007g0239 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0007g0240 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0007g0241 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0007g0252 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0007g0269 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0007g0270 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0008g0005 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0008g0013 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0008g0034 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0008g0035 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0009g0111 0/0 1 0 0 0 1 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0009g0148 0/0 1 0 0 0 1 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0010g0215 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0010g0220 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0012g0259 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0013g0058 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0013g0059 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0013g0060 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0014g0074 0/0 1 0 0 0 1 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0014g0116 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0014g0120 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0014g0146 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0015g0218 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0015g0224 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0015g0256 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0015g0264 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0015g0265 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0016g0136 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0018g0090 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0018g0104 0/0 1 0 0 0 1 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0019g0053 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0019g0119 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0019g0160 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0020g0138 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0021g0064 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0022g0129 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0022g0130 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0027g0263 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0027g0268 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0030g0261 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0033g0045 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0038g0189 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0039g0121 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0044g0073 0/0 1 0 0 0 1 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0045g0163 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0046g0071 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0050g0101 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0051g0075 0/0 1 0 0 0 1 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0053g0250 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0054g0286 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0055g0287 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0056g0253 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0057g0281 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0059g0290 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0061g0274 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0001t0063g0232 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0003t0005g0109 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0003t0005g0122 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0003t0005g0125 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0003t0005g0132 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0003t0005g0168 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0003t0005g0172 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0003t0005g0183 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0003t0006g0040 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0003t0006g0048 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0003t0010g0236 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0003t0010g0271 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0003t0010g0272 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0003t0010g0277 0/0 1 0 0 0 1 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0003t0010g0282 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0003t0010g0289 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0003t0011g0082 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0003t0011g0152 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0003t0011g0153 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0003t0011g0154 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0003t0011g0155 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0003t0011g0162 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0003t0012g0217 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0003t0012g0223 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0003t0012g0245 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0003t0012g0258 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0003t0012g0262 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0003t0028g0249 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0003t0029g0275 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0003t0029g0283 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0003t0032g0022 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0003t0041g0107 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0003t0049g0077 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0003t0058g0257 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0003t0060g0267 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0004t0001g0169 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0004t0001g0176 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0004t0001g0177 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0004t0003g0094 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0004t0003g0174 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0004t0003g0175 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0004t0009g0139 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0004t0009g0170 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0004t0009g0185 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0004t0009g0207 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0004t0009g0208 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0004t0014g0137 0/0 1 0 0 0 1 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0004t0016g0091 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0004t0017g0105 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0004t0017g0201 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0004t0017g0205 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0004t0024g0178 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0004t0024g0202 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0004t0040g0206 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0004t0042g0184 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0004t0065g0284 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0005t0001g0080 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0005t0001g0089 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0005t0003g0085 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0005t0004g0227 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0005t0004g0235 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0005t0004g0244 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0005t0005g0069 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0005t0005g0081 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0005t0009g0079 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0005t0009g0151 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0005t0010g0231 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0005t0016g0147 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0005t0018g0084 0/0 1 0 0 0 1 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0005t0020g0078 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0005t0025g0088 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0005t0025g0097 0/0 1 0 0 0 1 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0005t0030g0285 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0005t0047g0068 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0005t0048g0164 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0009t0005g0186 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0009t0005g0204 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0009t0011g0161 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0012t0023g0165 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0001c0014t0005g0083 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0001g0102 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0001g0190 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0001g0199 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0001g0212 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0002g0007 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0002g0008 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0002g0009 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0002g0014 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0002g0019 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0002g0025 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0002g0026 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0002g0027 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0002g0029 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0002g0030 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0002g0038 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0002g0046 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0002g0051 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0002g0062 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0003g0196 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0003g0197 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0003g0198 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0003g0200 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0004g0254 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0004g0255 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0007g0246 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0007g0260 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0007g0278 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0007g0279 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0008g0004 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0008g0006 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0008g0012 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0008g0017 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0008g0018 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0008g0044 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0008g0047 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0013g0041 0/1 1 0 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0016g0114 0/0 1 0 0 0 1 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0021g0065 0/0 1 0 0 0 1 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0026g0213 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0026g0214 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0031g0001 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0034g0024 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0035g0056 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0036g0061 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0043g0193 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0052g0087 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0002t0062g0280 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0006t0005g0086 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0006t0005g0171 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0006t0005g0191 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0006t0005g0194 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0006t0005g0195 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0006t0006g0016 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0006t0006g0023 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0006t0006g0028 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0006t0006g0036 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0006t0006g0037 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0006t0006g0039 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0006t0006g0042 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0006t0006g0043 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0013t0020g0209 1/0 1 0 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0002c0018t0002g0054 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0003c0007t0006g0002 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0003c0007t0006g0010 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0003c0007t0006g0020 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0003c0007t0006g0063 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0003c0007t0006g0066 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0004c0008t0005g0140 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0004c0008t0006g0033 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0004c0008t0028g0276 0/0 1 0 1 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0005c0010t0037g0167 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0005c0011t0023g0166 0/0 1 1 0 0 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0006c0016t0064g0248 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0007c0017t0013g0049 0/0 1 0 0 0 0 1 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
a0008c0015t0002g0050 0/0 1 0 0 1 0 0 SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00140 hp1 a0001 c0005 t0018 g0084 EUR GBR SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG00140 hp2 a0001 c0001 t0001 g0141 EUR GBR SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG00280 hp1 a0001 c0001 t0009 g0111 EUR FIN SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG00280 hp2 a0001 c0004 t0014 g0137 EUR FIN SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG00323 hp1 a0001 c0001 t0051 g0075 EUR FIN SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG00323 hp2 a0001 c0001 t0018 g0104 EUR FIN SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG00408 hp1 a0001 c0001 t0001 g0100 EAS CHS SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG00408 hp2 a0001 c0001 t0007 g0270 EAS CHS SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG00423 hp1 a0001 c0001 t0003 g0192 EAS CHS SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG00423 hp2 a0002 c0002 t0008 g0018 EAS CHS SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG00438 hp1 a0001 c0001 t0002 g0011 EAS CHS SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG00438 hp2 a0001 c0001 t0001 g0115 EAS CHS SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG00609 hp1 a0001 c0001 t0001 g0173 EAS CHS SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG00609 hp2 a0001 c0001 t0003 g0135 EAS CHS SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG00621 hp1 a0002 c0002 t0002 g0038 EAS CHS SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG00621 hp2 a0001 c0001 t0001 g0093 EAS CHS SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG00639 hp1 a0001 c0004 t0016 g0091 AMR PUR SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG00639 hp2 a0001 c0001 t0001 g0103 AMR PUR SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG00642 hp1 a0001 c0001 t0018 g0090 AMR PUR SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG00642 hp2 a0002 c0006 t0006 g0042 AMR PUR SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG00673 hp1 a0002 c0006 t0006 g0028 EAS CHS SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG00673 hp2 a0001 c0001 t0001 g0134 EAS CHS SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG00735 hp1 a0002 c0002 t0007 g0260 AMR PUR SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG00735 hp2 a0001 c0005 t0020 g0078 AMR PUR SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG00738 hp1 a0001 c0004 t0009 g0185 AMR PUR SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG00738 hp2 a0001 c0001 t0016 g0136 AMR PUR SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG00741 hp1 a0001 c0001 t0003 g0072 AMR PUR SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG00741 hp2 a0001 c0001 t0061 g0274 AMR PUR SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01069 hp1 a0001 c0003 t0010 g0271 AMR PUR SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01069 hp2 a0001 c0001 t0014 g0146 AMR PUR SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01071 hp1 a0001 c0003 t0010 g0272 AMR PUR SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01071 hp2 a0001 c0001 t0039 g0121 AMR PUR SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01106 hp1 a0001 c0004 t0009 g0170 AMR PUR SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01106 hp2 a0001 c0003 t0011 g0153 AMR PUR SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01109 hp1 a0001 c0004 t0009 g0139 AMR PUR SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01109 hp2 a0001 c0003 t0012 g0262 AMR PUR SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01167 hp1 a0001 c0004 t0017 g0105 AMR PUR SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01167 hp2 a0001 c0001 t0019 g0160 AMR PUR SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01168 hp1 a0001 c0001 t0022 g0129 AMR PUR SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01168 hp2 a0002 c0002 t0035 g0056 AMR PUR SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01192 hp1 a0001 c0001 t0022 g0130 AMR PUR SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01192 hp2 a0002 c0002 t0003 g0198 AMR PUR SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01243 hp1 a0001 c0001 t0015 g0256 AMR PUR SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01243 hp2 a0001 c0001 t0046 g0071 AMR PUR SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01255 hp1 a0001 c0001 t0005 g0128 AMR CLM SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01255 hp2 a0002 c0002 t0001 g0199 AMR CLM SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01258 hp1 a0001 c0001 t0013 g0058 AMR CLM SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01258 hp2 a0001 c0014 t0005 g0083 AMR CLM SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01261 hp1 a0001 c0001 t0001 g0108 AMR CLM SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01261 hp2 a0002 c0002 t0007 g0246 AMR CLM SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01346 hp1 a0001 c0001 t0001 g0124 AMR CLM SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01346 hp2 a0001 c0004 t0009 g0208 AMR CLM SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01358 hp1 a0001 c0001 t0053 g0250 AMR CLM SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01358 hp2 a0001 c0001 t0001 g0110 AMR CLM SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01433 hp1 a0001 c0001 t0013 g0059 AMR CLM SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01433 hp2 a0001 c0001 t0003 g0123 AMR CLM SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01496 hp1 a0001 c0001 t0013 g0060 AMR CLM SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01496 hp2 a0003 c0007 t0006 g0020 AMR CLM SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01515 hp1 a0002 c0002 t0016 g0114 EUR IBS SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01515 hp2 a0001 c0001 t0014 g0074 EUR IBS SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01516 hp1 a0001 c0003 t0010 g0277 EUR IBS SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01516 hp2 a0001 c0005 t0025 g0097 EUR IBS SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01884 hp1 a0005 c0010 t0037 g0167 AFR ACB SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01884 hp2 a0001 c0001 t0007 g0240 AFR ACB SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01891 hp1 a0001 c0005 t0001 g0080 AFR ACB SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01891 hp2 a0001 c0001 t0007 g0228 AFR ACB SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01952 hp1 a0004 c0008 t0006 g0033 AMR PEL SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01952 hp2 a0004 c0008 t0028 g0276 AMR PEL SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01975 hp1 a0001 c0001 t0008 g0034 AMR PEL SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01975 hp2 a0004 c0008 t0005 g0140 AMR PEL SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01978 hp1 a0001 c0003 t0006 g0040 AMR PEL SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01978 hp2 a0001 c0005 t0009 g0079 AMR PEL SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02015 hp1 a0002 c0002 t0001 g0102 EAS KHV SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02015 hp2 a0001 c0001 t0057 g0281 EAS KHV SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02055 hp1 a0001 c0001 t0007 g0241 AFR ACB SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02055 hp2 a0001 c0001 t0015 g0224 AFR ACB SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02056 hp1 a0001 c0003 t0005 g0168 EAS KHV SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02056 hp2 a0002 c0002 t0004 g0255 EAS KHV SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02071 hp1 a0001 c0004 t0042 g0184 EAS KHV SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02071 hp2 a0002 c0002 t0002 g0009 EAS KHV SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02074 hp1 a0002 c0002 t0002 g0026 EAS KHV SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02074 hp2 a0001 c0001 t0001 g0188 EAS KHV SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02080 hp1 a0001 c0001 t0001 g0098 EAS KHV SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02080 hp2 a0002 c0002 t0002 g0008 EAS KHV SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02132 hp1 a0001 c0001 t0001 g0187 EAS KHV SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02132 hp2 a0001 c0001 t0001 g0145 EAS KHV SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02135 hp1 a0001 c0001 t0007 g0252 EAS KHV SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02135 hp2 a0002 c0006 t0006 g0036 EAS KHV SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02145 hp1 a0001 c0001 t0010 g0220 AFR ACB SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02145 hp2 a0001 c0001 t0015 g0265 AFR ACB SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02155 hp1 a0002 c0002 t0052 g0087 EAS CDX SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02155 hp2 a0001 c0001 t0001 g0099 EAS CDX SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02257 hp1 a0001 c0001 t0004 g0226 AFR ACB SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02257 hp2 a0001 c0001 t0005 g0092 AFR ACB SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02258 hp1 a0001 c0001 t0021 g0064 AFR ACB SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02258 hp2 a0001 c0001 t0054 g0286 AFR ACB SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02280 hp1 a0001 c0003 t0058 g0257 AFR ACB SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02280 hp2 a0001 c0005 t0016 g0147 AFR ACB SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02293 hp1 a0002 c0002 t0007 g0278 AMR PEL SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02293 hp2 a0003 c0007 t0006 g0066 AMR PEL SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02451 hp1 a0005 c0011 t0023 g0166 AFR ACB SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02451 hp2 a0003 c0007 t0006 g0063 AFR ACB SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02602 hp1 a0001 c0001 t0014 g0120 SAS PJL SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02602 hp2 a0006 c0016 t0064 g0248 SAS PJL SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02615 hp1 a0001 c0003 t0060 g0267 AFR GWD SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02615 hp2 a0001 c0005 t0047 g0068 AFR GWD SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02622 hp1 a0001 c0005 t0010 g0231 AFR GWD SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02622 hp2 a0001 c0001 t0004 g0238 AFR GWD SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02630 hp1 a0001 c0001 t0004 g0222 AFR GWD SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02630 hp2 a0001 c0001 t0027 g0263 AFR GWD SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02647 hp1 a0001 c0005 t0005 g0081 AFR GWD SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02647 hp2 a0001 c0001 t0004 g0234 AFR GWD SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02723 hp1 a0001 c0001 t0007 g0230 AFR GWD SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02723 hp2 a0001 c0005 t0009 g0151 AFR GWD SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02738 hp1 a0001 c0001 t0004 g0266 SAS PJL SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02738 hp2 a0001 c0005 t0025 g0088 SAS PJL SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02809 hp1 a0001 c0001 t0001 g0158 AFR GWD SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02809 hp2 a0001 c0001 t0004 g0219 AFR GWD SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02895 hp1 a0002 c0002 t0026 g0213 AFR GWD SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02895 hp2 a0001 c0012 t0023 g0165 AFR GWD SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02896 hp1 a0001 c0005 t0004 g0227 AFR GWD SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02896 hp2 a0001 c0001 t0001 g0156 AFR GWD SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02897 hp1 a0001 c0005 t0004 g0235 AFR GWD SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02897 hp2 a0002 c0002 t0026 g0214 AFR GWD SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02922 hp1 a0001 c0001 t0004 g0291 AFR ESN SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02922 hp2 a0001 c0004 t0065 g0284 AFR ESN SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02965 hp1 a0001 c0001 t0001 g0149 AFR ESN SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02965 hp2 a0001 c0001 t0004 g0288 AFR ESN SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG03017 hp1 a0001 c0004 t0040 g0206 SAS PJL SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG03017 hp2 a0001 c0001 t0003 g0112 SAS PJL SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG03041 hp1 a0001 c0005 t0004 g0244 AFR GWD SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG03041 hp2 a0001 c0001 t0027 g0268 AFR GWD SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG03130 hp1 a0002 c0002 t0001 g0212 AFR ESN SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG03130 hp2 a0001 c0001 t0003 g0157 AFR ESN SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG03139 hp1 a0001 c0005 t0048 g0164 AFR ESN SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG03139 hp2 a0001 c0001 t0001 g0292 AFR ESN SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG03195 hp1 a0001 c0003 t0011 g0154 AFR ESN SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG03195 hp2 a0001 c0005 t0030 g0285 AFR ESN SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG03209 hp1 a0001 c0001 t0019 g0053 AFR MSL SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG03209 hp2 a0001 c0003 t0012 g0217 AFR MSL SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG03225 hp1 a0001 c0001 t0001 g0052 AFR MSL SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG03225 hp2 a0001 c0001 t0001 g0210 AFR MSL SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG03239 hp1 a0003 c0007 t0006 g0002 SAS PJL SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG03239 hp2 a0001 c0001 t0050 g0101 SAS PJL SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG03486 hp1 a0001 c0003 t0012 g0223 AFR MSL SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG03486 hp2 a0001 c0001 t0007 g0216 AFR MSL SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG03491 hp1 a0001 c0005 t0001 g0089 SAS PJL SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG03491 hp2 a0001 c0004 t0017 g0201 SAS PJL SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG03516 hp1 a0001 c0004 t0003 g0094 AFR ESN SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG03516 hp2 a0001 c0001 t0001 g0150 AFR ESN SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG03540 hp1 a0001 c0003 t0011 g0162 AFR GWD SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG03540 hp2 a0001 c0003 t0012 g0258 AFR GWD SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG03654 hp1 a0001 c0001 t0014 g0116 SAS PJL SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG03654 hp2 a0001 c0003 t0029 g0275 SAS PJL SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG03669 hp1 a0001 c0003 t0029 g0283 SAS PJL SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG03669 hp2 a0001 c0001 t0020 g0138 SAS PJL SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG03831 hp1 a0002 c0002 t0002 g0046 SAS BEB SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG03831 hp2 a0001 c0003 t0010 g0282 SAS BEB SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG04115 hp1 a0002 c0002 t0008 g0047 SAS STU SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG04115 hp2 a0001 c0001 t0055 g0287 SAS STU SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG04199 hp1 a0001 c0004 t0009 g0207 SAS STU SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG04199 hp2 a0001 c0003 t0032 g0022 SAS STU SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG04204 hp1 a0007 c0017 t0013 g0049 SAS STU SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG04204 hp2 a0002 c0002 t0002 g0051 SAS STU SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG04228 hp1 a0002 c0002 t0008 g0006 SAS STU SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG04228 hp2 a0001 c0001 t0003 g0070 SAS STU SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18522 hp1 a0001 c0009 t0011 g0161 AFR YRI SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18522 hp2 a0001 c0001 t0015 g0218 AFR YRI SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18747 hp1 a0001 c0003 t0005 g0132 EAS CHB SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18747 hp2 a0001 c0001 t0003 g0179 EAS CHB SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18943 hp1 a0001 c0003 t0005 g0125 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18943 hp2 a0001 c0001 t0003 g0180 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18944 hp1 a0001 c0001 t0002 g0003 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18944 hp2 a0001 c0001 t0004 g0243 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18945 hp1 a0002 c0002 t0007 g0279 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18945 hp2 a0001 c0001 t0001 g0117 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18946 hp1 a0001 c0001 t0002 g0057 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18946 hp2 a0001 c0001 t0001 g0144 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18948 hp1 a0001 c0009 t0005 g0204 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18948 hp2 a0002 c0002 t0031 g0001 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18949 hp1 a0008 c0015 t0002 g0050 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18949 hp2 a0002 c0006 t0005 g0191 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18951 hp1 a0002 c0002 t0002 g0019 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18951 hp2 a0002 c0002 t0008 g0044 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18954 hp1 a0001 c0001 t0004 g0273 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18954 hp2 a0002 c0002 t0043 g0193 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18956 hp1 a0001 c0001 t0056 g0253 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18956 hp2 a0002 c0006 t0006 g0037 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18957 hp1 a0001 c0004 t0003 g0175 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18957 hp2 a0002 c0002 t0002 g0062 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18959 hp1 a0001 c0003 t0010 g0289 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18959 hp2 a0001 c0001 t0001 g0118 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18960 hp1 a0002 c0002 t0003 g0197 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18960 hp2 a0001 c0003 t0005 g0122 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18961 hp1 a0002 c0002 t0002 g0030 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18961 hp2 a0001 c0003 t0049 g0077 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18964 hp1 a0002 c0006 t0005 g0195 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18964 hp2 a0001 c0001 t0001 g0096 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18965 hp1 a0002 c0002 t0003 g0196 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18965 hp2 a0002 c0006 t0005 g0194 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18967 hp1 a0002 c0006 t0005 g0086 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18967 hp2 a0001 c0001 t0003 g0142 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18968 hp1 a0001 c0001 t0001 g0095 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18968 hp2 a0002 c0006 t0006 g0039 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18970 hp1 a0001 c0001 t0008 g0035 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18970 hp2 a0001 c0001 t0007 g0269 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18971 hp1 a0002 c0006 t0006 g0016 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18971 hp2 a0001 c0001 t0003 g0113 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18973 hp1 a0001 c0001 t0001 g0127 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18973 hp2 a0001 c0001 t0004 g0251 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18977 hp1 a0002 c0002 t0002 g0014 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18977 hp2 a0001 c0001 t0008 g0013 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18981 hp1 a0002 c0002 t0003 g0200 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18981 hp2 a0002 c0006 t0006 g0043 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18982 hp1 a0001 c0004 t0001 g0177 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18982 hp2 a0001 c0001 t0003 g0131 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18985 hp1 a0002 c0006 t0005 g0171 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18985 hp2 a0001 c0004 t0001 g0169 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18986 hp1 a0002 c0002 t0008 g0017 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18986 hp2 a0001 c0004 t0024 g0178 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18988 hp1 a0002 c0002 t0036 g0061 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18988 hp2 a0002 c0006 t0006 g0023 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18990 hp1 a0001 c0001 t0002 g0021 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18990 hp2 a0002 c0002 t0062 g0280 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18998 hp1 a0001 c0004 t0024 g0202 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA18998 hp2 a0001 c0001 t0001 g0106 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA19000 hp1 a0001 c0001 t0001 g0203 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA19000 hp2 a0001 c0001 t0001 g0143 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA19001 hp1 a0001 c0001 t0004 g0242 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA19001 hp2 a0001 c0003 t0005 g0183 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA19004 hp1 a0001 c0001 t0008 g0005 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA19004 hp2 a0001 c0001 t0003 g0133 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA19010 hp1 a0002 c0002 t0001 g0190 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA19010 hp2 a0002 c0002 t0002 g0025 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA19011 hp1 a0001 c0001 t0019 g0119 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA19011 hp2 a0002 c0002 t0002 g0027 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA19012 hp1 a0001 c0004 t0017 g0205 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA19012 hp2 a0001 c0003 t0005 g0172 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA19030 hp1 a0001 c0001 t0059 g0290 AFR LWK SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA19030 hp2 a0001 c0003 t0011 g0152 AFR LWK SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA19043 hp1 a0001 c0001 t0012 g0259 AFR LWK SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA19043 hp2 a0001 c0001 t0063 g0232 AFR LWK SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA19057 hp1 a0002 c0002 t0002 g0007 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA19057 hp2 a0002 c0002 t0004 g0254 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA19060 hp1 a0002 c0002 t0008 g0004 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA19060 hp2 a0001 c0009 t0005 g0186 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA19062 hp1 a0002 c0002 t0034 g0024 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA19062 hp2 a0001 c0001 t0001 g0182 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA19063 hp1 a0001 c0001 t0002 g0055 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA19063 hp2 a0001 c0001 t0004 g0247 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA19066 hp1 a0001 c0001 t0003 g0076 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA19066 hp2 a0001 c0001 t0038 g0189 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA19068 hp1 a0001 c0003 t0028 g0249 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA19068 hp2 a0001 c0001 t0002 g0031 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA19070 hp1 a0001 c0001 t0002 g0032 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA19070 hp2 a0001 c0004 t0001 g0176 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA19074 hp1 a0001 c0004 t0003 g0174 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA19074 hp2 a0001 c0003 t0005 g0109 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA19077 hp1 a0001 c0003 t0006 g0048 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA19077 hp2 a0001 c0001 t0002 g0067 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA19086 hp1 a0002 c0018 t0002 g0054 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA19086 hp2 a0001 c0001 t0033 g0045 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA19089 hp1 a0002 c0002 t0002 g0029 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA19089 hp2 a0001 c0001 t0001 g0181 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA19091 hp1 a0002 c0002 t0008 g0012 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA19091 hp2 a0001 c0001 t0002 g0015 EAS JPT SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA19240 hp1 a0001 c0001 t0001 g0211 AFR YRI SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA19240 hp2 a0001 c0003 t0012 g0245 AFR YRI SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA20129 hp1 a0001 c0001 t0004 g0233 AFR ASW SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA20129 hp2 a0003 c0007 t0006 g0010 AFR ASW SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA20752 hp1 a0002 c0002 t0021 g0065 EUR TSI SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA20752 hp2 a0001 c0001 t0009 g0148 EUR TSI SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA20805 hp1 a0001 c0001 t0007 g0237 EUR TSI SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA20805 hp2 a0001 c0001 t0044 g0073 EUR TSI SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01123 hp1 a0001 c0003 t0041 g0107 AMR CLM SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG01123 hp2 a0001 c0005 t0003 g0085 AMR CLM SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02109 hp1 a0001 c0001 t0030 g0261 AFR ACB SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02109 hp2 a0001 c0001 t0007 g0239 AFR ACB SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02486 hp1 a0001 c0001 t0007 g0221 AFR ACB SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02486 hp2 a0001 c0003 t0011 g0082 AFR ACB SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02559 hp1 a0001 c0001 t0010 g0215 AFR ACB SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG02559 hp2 a0001 c0001 t0045 g0163 AFR ACB SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG03471 hp1 a0001 c0001 t0015 g0264 AFR MSL SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG03471 hp2 a0001 c0003 t0011 g0155 AFR MSL SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG06807 hp1 a0001 c0005 t0005 g0069 AFR USA SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
HG06807 hp2 a0001 c0001 t0001 g0159 AFR USA SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA20300 hp1 a0001 c0001 t0004 g0229 AFR USA SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA20300 hp2 a0001 c0001 t0003 g0126 AFR USA SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA21309 hp1 a0001 c0001 t0004 g0225 AFR LWK SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
NA21309 hp2 a0001 c0003 t0010 g0236 AFR LWK SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
homoSapiens_chm13v2 hp1 a0002 c0002 t0013 g0041 REF REF SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103
homoSapiens_grch38 hp1 a0002 c0013 t0020 g0209 REF REF SPTLC3_chr20_13003972_13174103 SPTLC3 chr20 13003972 13174103

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
chr20:13009376 G
G
 A
A
 1 a0005
a0005
 2 HG01884.hp1
HG02451.hp1
HG01884.hp1
HG02451.hp1
 missense_variant MODERATE c.109G>A
c.109G>A
 p.Glu37Lys
p.Glu37Lys
 SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/12 405/6191 109/1659 37/552 chr20 13009376
chr20:13072370 T
T
 G
G
 6 a0001
a0004
a0005
others(3): Show 
a0001
a0004
a0005
a0006
a0007
a0008
 225 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(222): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18990.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 missense_variant MODERATE c.418T>G
c.418T>G
 p.Leu140Val
p.Leu140Val
 SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 3/12 714/6191 418/1659 140/552 chr20 13072370
chr20:13117529 T
T
 C
C
 1 a0008
a0008
 1 NA18949.hp1
NA18949.hp1
 missense_variant MODERATE c.956T>C
c.956T>C
 p.Leu319Pro
p.Leu319Pro
 SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/12 1252/6191 956/1659 319/552 chr20 13117529
chr20:13117537 A
A
 T
T
 1 a0006
a0006
 1 HG02602.hp2
HG02602.hp2
 missense_variant MODERATE c.964A>T
c.964A>T
 p.Ile322Phe
p.Ile322Phe
 SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/12 1260/6191 964/1659 322/552 chr20 13117537
chr20:13160073 G
G
 A
A
 2 a0003
a0004
a0003
a0004
 8 HG01496.hp2
HG01952.hp1
HG01952.hp2
others(5): Show 
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG02293.hp2
HG02451.hp2
HG03239.hp1
NA20129.hp2
 missense_variant MODERATE c.1486G>A
c.1486G>A
 p.Ala496Thr
p.Ala496Thr
 SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/12 1782/6191 1486/1659 496/552 chr20 13160073
chr20:13160127 G
G
 C
C
 1 a0007
a0007
 1 HG04204.hp1
HG04204.hp1
 missense_variant MODERATE c.1540G>C
c.1540G>C
 p.Asp514His
p.Asp514His
 SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/12 1836/6191 1540/1659 514/552 chr20 13160127

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
chr20:13049116 A
A
 C
C
 16 a0001c0001
a0001c0003
a0001c0004
others(13): Show 
a0001c0001
a0001c0003
a0001c0004
a0001c0005
a0001c0009
a0001c0014
a0002c0002
a0002c0006
a0002c0018
a0003c0007
a0004c0008
a0005c0010
a0005c0011
a0006c0016
a0007c0017
a0008c0015
 290 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(287): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.289A>C
c.289A>C
 p.Arg97Arg
p.Arg97Arg
 SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/12 585/6191 289/1659 97/552 chr20 13049116
chr20:13072387 A
A
 G
G
 10 a0001c0001
a0001c0003
a0001c0004
others(7): Show 
a0001c0001
a0001c0003
a0001c0004
a0001c0009
a0001c0012
a0004c0008
a0005c0011
a0006c0016
a0007c0017
a0008c0015
 204 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(201): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18990.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 synonymous_variant LOW c.435A>G
c.435A>G
 p.Ser145Ser
p.Ser145Ser
 SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 3/12 731/6191 435/1659 145/552 chr20 13072387
chr20:13091168 C
C
 T
T
 3 a0001c0004
a0001c0009
a0007c0017
a0001c0004
a0001c0009
a0007c0017
 25 HG00280.hp2
HG00639.hp1
HG00738.hp1
others(22): Show 
HG00280.hp2
HG00639.hp1
HG00738.hp1
HG01106.hp1
HG01109.hp1
HG01167.hp1
HG01346.hp2
HG02071.hp1
HG02922.hp2
HG03017.hp1
HG03491.hp2
HG03516.hp1
HG04199.hp1
HG04204.hp1
NA18522.hp1
NA18948.hp1
NA18957.hp1
NA18982.hp1
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA19012.hp1
NA19060.hp2
NA19070.hp2
NA19074.hp1
 synonymous_variant LOW c.693C>T
c.693C>T
 p.Phe231Phe
p.Phe231Phe
 SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 5/12 989/6191 693/1659 231/552 chr20 13091168
chr20:13110155 T
T
 C
C
 1 a0002c0018
a0002c0018
 1 NA19086.hp1
NA19086.hp1
 synonymous_variant LOW c.870T>C
c.870T>C
 p.Tyr290Tyr
p.Tyr290Tyr
 SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/12 1166/6191 870/1659 290/552 chr20 13110155
chr20:13154121 T
T
 C
C
 6 a0001c0003
a0001c0009
a0001c0014
others(3): Show 
a0001c0003
a0001c0009
a0001c0014
a0002c0006
a0003c0007
a0004c0008
 59 HG00642.hp2
HG00673.hp1
HG01069.hp1
others(56): Show 
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01258.hp2
HG01496.hp2
HG01516.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02056.hp1
HG02135.hp2
HG02280.hp1
HG02293.hp2
HG02451.hp2
HG02486.hp2
HG02615.hp1
HG03195.hp1
HG03209.hp2
HG03239.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04199.hp2
NA18522.hp1
NA18747.hp1
NA18943.hp1
NA18948.hp1
NA18949.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18985.hp1
NA18988.hp2
NA19001.hp2
NA19012.hp2
NA19030.hp2
NA19060.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA19240.hp2
NA20129.hp2
NA21309.hp2
 synonymous_variant LOW c.1398T>C
c.1398T>C
 p.Tyr466Tyr
p.Tyr466Tyr
 SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/12 1694/6191 1398/1659 466/552 chr20 13154121

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
chr20:13009015 C
C
 T
T
 30 a0001c0001t0004
a0001c0001t0007
a0001c0001t0010
others(27): Show 
a0001c0001t0004
a0001c0001t0007
a0001c0001t0010
a0001c0001t0012
a0001c0001t0015
a0001c0001t0027
a0001c0001t0030
a0001c0001t0053
a0001c0001t0054
a0001c0001t0055
a0001c0001t0056
a0001c0001t0057
a0001c0001t0059
a0001c0001t0061
a0001c0001t0063
a0001c0003t0010
a0001c0003t0012
a0001c0003t0028
a0001c0003t0029
a0001c0003t0058
a0001c0003t0060
a0001c0004t0065
a0001c0005t0004
a0001c0005t0010
a0001c0005t0030
a0002c0002t0004
a0002c0002t0007
a0002c0002t0062
a0004c0008t0028
a0006c0016t0064
 77 HG00408.hp2
HG00735.hp1
HG00741.hp2
others(74): Show 
HG00408.hp2
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01109.hp2
HG01243.hp1
HG01261.hp2
HG01358.hp1
HG01516.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02486.hp1
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03195.hp2
HG03209.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
NA18522.hp2
NA18944.hp2
NA18945.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18970.hp2
NA18973.hp2
NA18990.hp2
NA19001.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp2
NA19068.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
 5_prime_UTR_premature_start_codon_gain_variant LOW c.-253C>T
c.-253C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/12 chr20 13009015
chr20:13009253 T
T
 C
C
 21 a0001c0001t0002
a0001c0001t0008
a0001c0001t0013
others(18): Show 
a0001c0001t0002
a0001c0001t0008
a0001c0001t0013
a0001c0001t0021
a0001c0001t0033
a0001c0003t0006
a0001c0003t0032
a0002c0002t0002
a0002c0002t0008
a0002c0002t0013
a0002c0002t0021
a0002c0002t0031
a0002c0002t0034
a0002c0002t0035
a0002c0002t0036
a0002c0006t0006
a0002c0018t0002
a0003c0007t0006
a0004c0008t0006
a0007c0017t0013
a0008c0015t0002
 65 HG00423.hp2
HG00438.hp1
HG00621.hp1
others(62): Show 
HG00423.hp2
HG00438.hp1
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG01168.hp2
HG01258.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02135.hp2
HG02258.hp1
HG02293.hp2
HG02451.hp2
HG03239.hp1
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA19004.hp1
NA19010.hp2
NA19011.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19068.hp2
NA19070.hp1
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 5_prime_UTR_variant MODIFIER c.-15T>C
c.-15T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/12 15 chr20 13009253
chr20:13164991 T
T
 C
C
 5 a0001c0001t0014
a0001c0001t0021
a0001c0001t0053
others(2): Show 
a0001c0001t0014
a0001c0001t0021
a0001c0001t0053
a0001c0004t0014
a0002c0002t0021
 8 HG00280.hp2
HG01069.hp2
HG01358.hp1
others(5): Show 
HG00280.hp2
HG01069.hp2
HG01358.hp1
HG01515.hp2
HG02258.hp1
HG02602.hp1
HG03654.hp1
NA20752.hp1
 3_prime_UTR_variant MODIFIER c.*124T>C
c.*124T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 124 chr20 13164991
chr20:13165018 T
T
 A
A
 2 a0001c0001t0027
a0005c0010t0037
a0001c0001t0027
a0005c0010t0037
 3 HG01884.hp1
HG02630.hp2
HG03041.hp2
HG01884.hp1
HG02630.hp2
HG03041.hp2
 3_prime_UTR_variant MODIFIER c.*151T>A
c.*151T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 151 chr20 13165018
chr20:13165063 T
T
 C
C
 1 a0001c0001t0038
a0001c0001t0038
 1 NA19066.hp2
NA19066.hp2
 3_prime_UTR_variant MODIFIER c.*196T>C
c.*196T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 196 chr20 13165063
chr20:13165099 T
T
 TAC
TAC
 38 a0001c0001t0002
a0001c0001t0003
a0001c0001t0007
others(35): Show 
a0001c0001t0002
a0001c0001t0003
a0001c0001t0007
a0001c0001t0012
a0001c0001t0015
a0001c0001t0016
a0001c0001t0018
a0001c0001t0033
a0001c0001t0044
a0001c0001t0056
a0001c0001t0057
a0001c0001t0059
a0001c0001t0061
a0001c0003t0011
a0001c0003t0012
a0001c0003t0029
a0001c0003t0032
a0001c0003t0058
a0001c0003t0060
a0001c0004t0003
a0001c0004t0016
a0001c0004t0042
a0001c0005t0003
a0001c0005t0016
a0001c0005t0018
a0001c0009t0011
a0001c0012t0023
a0002c0002t0002
a0002c0002t0003
a0002c0002t0007
a0002c0002t0016
a0002c0002t0034
a0002c0002t0035
a0002c0002t0043
a0002c0002t0062
a0002c0018t0002
a0005c0011t0023
a0008c0015t0002
 106 HG00140.hp1
HG00323.hp2
HG00408.hp2
others(103): Show 
HG00140.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01192.hp2
HG01243.hp1
HG01261.hp2
HG01433.hp2
HG01515.hp1
HG01884.hp2
HG01891.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02109.hp2
HG02135.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02723.hp1
HG02895.hp2
HG03017.hp2
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18954.hp2
NA18956.hp1
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18965.hp1
NA18967.hp2
NA18970.hp2
NA18971.hp2
NA18977.hp1
NA18981.hp1
NA18982.hp2
NA18990.hp1
NA18990.hp2
NA19004.hp2
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp2
NA20805.hp1
NA20805.hp2
 3_prime_UTR_variant MODIFIER c.*253_*254dupAC
c.*253_*254dupAC
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 255 INFO_REALIGN_3_PRIME chr20 13165099
chr20:13165099 T
T
 TACAC
TACAC
 26 a0001c0001t0005
a0001c0001t0010
a0001c0001t0022
others(23): Show 
a0001c0001t0005
a0001c0001t0010
a0001c0001t0022
a0001c0001t0027
a0001c0001t0039
a0001c0001t0054
a0001c0001t0055
a0001c0003t0005
a0001c0003t0006
a0001c0003t0010
a0001c0003t0028
a0001c0003t0041
a0001c0004t0017
a0001c0004t0040
a0001c0005t0005
a0001c0005t0010
a0001c0009t0005
a0001c0014t0005
a0002c0002t0031
a0002c0006t0005
a0002c0006t0006
a0003c0007t0006
a0004c0008t0005
a0004c0008t0006
a0004c0008t0028
a0005c0010t0037
 61 HG00642.hp2
HG00673.hp1
HG01069.hp1
others(58): Show 
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp2
HG01496.hp2
HG01516.hp1
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02056.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG03017.hp1
HG03041.hp2
HG03239.hp1
HG03491.hp2
HG03831.hp2
HG04115.hp2
HG06807.hp1
NA18747.hp1
NA18943.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18985.hp1
NA18988.hp2
NA19001.hp2
NA19012.hp1
NA19012.hp2
NA19060.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA20129.hp2
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*251_*254dupACAC
c.*251_*254dupACAC
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 255 INFO_REALIGN_3_PRIME chr20 13165099
chr20:13165200 T
T
 G
G
 2 a0001c0003t0029
a0001c0003t0032
a0001c0003t0029
a0001c0003t0032
 3 HG03654.hp2
HG03669.hp1
HG04199.hp2
HG03654.hp2
HG03669.hp1
HG04199.hp2
 3_prime_UTR_variant MODIFIER c.*333T>G
c.*333T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 333 chr20 13165200
chr20:13165479 G
G
 A
A
 1 a0001c0001t0022
a0001c0001t0022
 2 HG01168.hp1
HG01192.hp1
HG01168.hp1
HG01192.hp1
 3_prime_UTR_variant MODIFIER c.*612G>A
c.*612G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 612 chr20 13165479
chr20:13165667 C
C
 T
T
 15 a0001c0001t0009
a0001c0001t0013
a0001c0001t0030
others(12): Show 
a0001c0001t0009
a0001c0001t0013
a0001c0001t0030
a0001c0001t0051
a0001c0004t0009
a0001c0004t0065
a0001c0005t0009
a0001c0005t0025
a0001c0005t0030
a0002c0002t0013
a0002c0002t0026
a0002c0002t0036
a0002c0002t0052
a0006c0016t0064
a0007c0017t0013
 25 HG00280.hp1
HG00323.hp1
HG00738.hp1
others(22): Show 
HG00280.hp1
HG00323.hp1
HG00738.hp1
HG01106.hp1
HG01109.hp1
HG01258.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG01516.hp2
HG01978.hp2
HG02109.hp1
HG02155.hp1
HG02602.hp2
HG02723.hp2
HG02738.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp2
HG03195.hp2
HG04199.hp1
HG04204.hp1
NA18988.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*800C>T
c.*800C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 800 chr20 13165667
chr20:13165779 A
A
 T
T
 5 a0001c0001t0016
a0001c0004t0016
a0001c0005t0016
others(2): Show 
a0001c0001t0016
a0001c0004t0016
a0001c0005t0016
a0002c0002t0016
a0002c0002t0035
 5 HG00639.hp1
HG00738.hp2
HG01168.hp2
others(2): Show 
HG00639.hp1
HG00738.hp2
HG01168.hp2
HG01515.hp1
HG02280.hp2
 3_prime_UTR_variant MODIFIER c.*912A>T
c.*912A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 912 chr20 13165779
chr20:13166297 A
A
 G
G
 1 a0001c0001t0050
a0001c0001t0050
 1 HG03239.hp2
HG03239.hp2
 3_prime_UTR_variant MODIFIER c.*1430A>G
c.*1430A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 1430 chr20 13166297
chr20:13166441 A
A
 C
C
 18 a0001c0001t0005
a0001c0001t0010
a0001c0003t0005
others(15): Show 
a0001c0001t0005
a0001c0001t0010
a0001c0003t0005
a0001c0003t0006
a0001c0003t0010
a0001c0003t0028
a0001c0003t0041
a0001c0003t0049
a0001c0005t0005
a0001c0005t0010
a0001c0009t0005
a0001c0014t0005
a0002c0006t0005
a0002c0006t0006
a0003c0007t0006
a0004c0008t0005
a0004c0008t0006
a0004c0008t0028
 49 HG00642.hp2
HG00673.hp1
HG01069.hp1
others(46): Show 
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01123.hp1
HG01255.hp1
HG01258.hp2
HG01496.hp2
HG01516.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02056.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp2
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02622.hp1
HG02647.hp1
HG03239.hp1
HG03831.hp2
HG06807.hp1
NA18747.hp1
NA18943.hp1
NA18948.hp1
NA18949.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18985.hp1
NA18988.hp2
NA19001.hp2
NA19012.hp2
NA19060.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA20129.hp2
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*1574A>C
c.*1574A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 1574 chr20 13166441
chr20:13166507 T
T
 C
C
 1 a0001c0005t0025
a0001c0005t0025
 2 HG01516.hp2
HG02738.hp2
HG01516.hp2
HG02738.hp2
 3_prime_UTR_variant MODIFIER c.*1640T>C
c.*1640T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 1640 chr20 13166507
chr20:13166659 A
A
 G
G
 1 a0002c0002t0062
a0002c0002t0062
 1 NA18990.hp2
NA18990.hp2
 3_prime_UTR_variant MODIFIER c.*1792A>G
c.*1792A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 1792 chr20 13166659
chr20:13166757 T
T
 C
C
 7 a0001c0001t0033
a0001c0001t0039
a0001c0001t0045
others(4): Show 
a0001c0001t0033
a0001c0001t0039
a0001c0001t0045
a0001c0001t0056
a0001c0001t0057
a0001c0004t0042
a0002c0002t0062
 7 HG01071.hp2
HG02015.hp2
HG02071.hp1
others(4): Show 
HG01071.hp2
HG02015.hp2
HG02071.hp1
HG02559.hp2
NA18956.hp1
NA18990.hp2
NA19086.hp2
 3_prime_UTR_variant MODIFIER c.*1890T>C
c.*1890T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 1890 chr20 13166757
chr20:13166779 G
G
 C
C
 103 a0001c0001t0001
a0001c0001t0002
a0001c0001t0003
others(100): Show 
a0001c0001t0001
a0001c0001t0002
a0001c0001t0003
a0001c0001t0004
a0001c0001t0005
a0001c0001t0007
a0001c0001t0008
a0001c0001t0009
a0001c0001t0010
a0001c0001t0012
a0001c0001t0013
a0001c0001t0014
a0001c0001t0015
a0001c0001t0016
a0001c0001t0018
a0001c0001t0019
a0001c0001t0021
a0001c0001t0022
a0001c0001t0027
a0001c0001t0030
a0001c0001t0033
a0001c0001t0038
a0001c0001t0039
a0001c0001t0044
a0001c0001t0045
a0001c0001t0046
a0001c0001t0050
a0001c0001t0051
a0001c0001t0053
a0001c0001t0054
a0001c0001t0055
a0001c0001t0056
a0001c0001t0057
a0001c0001t0059
a0001c0001t0061
a0001c0001t0063
a0001c0003t0005
a0001c0003t0006
a0001c0003t0010
a0001c0003t0011
a0001c0003t0012
a0001c0003t0028
a0001c0003t0029
a0001c0003t0032
a0001c0003t0041
a0001c0003t0049
a0001c0003t0058
a0001c0003t0060
a0001c0004t0001
a0001c0004t0003
a0001c0004t0009
a0001c0004t0014
a0001c0004t0016
a0001c0004t0017
a0001c0004t0024
a0001c0004t0040
a0001c0004t0042
a0001c0004t0065
a0001c0005t0001
a0001c0005t0003
a0001c0005t0004
a0001c0005t0005
a0001c0005t0009
a0001c0005t0010
a0001c0005t0016
a0001c0005t0018
a0001c0005t0025
a0001c0005t0030
a0001c0005t0047
a0001c0005t0048
a0001c0009t0005
a0001c0009t0011
a0001c0012t0023
a0001c0014t0005
a0002c0002t0001
a0002c0002t0002
a0002c0002t0003
a0002c0002t0004
a0002c0002t0007
a0002c0002t0008
a0002c0002t0013
a0002c0002t0016
a0002c0002t0021
a0002c0002t0026
a0002c0002t0031
a0002c0002t0034
a0002c0002t0035
a0002c0002t0036
a0002c0002t0043
a0002c0002t0052
a0002c0002t0062
a0002c0006t0005
a0002c0006t0006
a0002c0018t0002
a0003c0007t0006
a0004c0008t0005
a0004c0008t0006
a0004c0008t0028
a0005c0010t0037
a0005c0011t0023
a0006c0016t0064
a0007c0017t0013
a0008c0015t0002
 289 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(286): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*1912G>C
c.*1912G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 1912 chr20 13166779
chr20:13166818 C
C
 A
A
 1 a0006c0016t0064
a0006c0016t0064
 1 HG02602.hp2
HG02602.hp2
 3_prime_UTR_variant MODIFIER c.*1951C>A
c.*1951C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 1951 chr20 13166818
chr20:13167028 C
C
 T
T
 1 a0001c0004t0024
a0001c0004t0024
 2 NA18986.hp2
NA18998.hp1
NA18986.hp2
NA18998.hp1
 3_prime_UTR_variant MODIFIER c.*2161C>T
c.*2161C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 2161 chr20 13167028
chr20:13167066 T
T
 G
G
 1 a0002c0002t0043
a0002c0002t0043
 1 NA18954.hp2
NA18954.hp2
 3_prime_UTR_variant MODIFIER c.*2199T>G
c.*2199T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 2199 chr20 13167066
chr20:13167155 T
T
 C
C
 1 a0001c0001t0046
a0001c0001t0046
 1 HG01243.hp2
HG01243.hp2
 3_prime_UTR_variant MODIFIER c.*2288T>C
c.*2288T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 2288 chr20 13167155
chr20:13167171 A
A
 C
C
 3 a0002c0002t0036
a0002c0002t0052
a0006c0016t0064
a0002c0002t0036
a0002c0002t0052
a0006c0016t0064
 3 HG02155.hp1
HG02602.hp2
NA18988.hp1
HG02155.hp1
HG02602.hp2
NA18988.hp1
 3_prime_UTR_variant MODIFIER c.*2304A>C
c.*2304A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 2304 chr20 13167171
chr20:13167205 T
T
 G
G
 2 a0001c0003t0029
a0001c0003t0032
a0001c0003t0029
a0001c0003t0032
 3 HG03654.hp2
HG03669.hp1
HG04199.hp2
HG03654.hp2
HG03669.hp1
HG04199.hp2
 3_prime_UTR_variant MODIFIER c.*2338T>G
c.*2338T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 2338 chr20 13167205
chr20:13167241 GTTCATGA
others(6): Show 
GTTCATGATTTTAA
 G
G
 6 a0001c0001t0012
a0001c0001t0059
a0001c0003t0011
others(3): Show 
a0001c0001t0012
a0001c0001t0059
a0001c0003t0011
a0001c0003t0012
a0001c0003t0058
a0001c0009t0011
 15 HG01106.hp2
HG01109.hp2
HG02280.hp1
others(12): Show 
HG01106.hp2
HG01109.hp2
HG02280.hp1
HG02486.hp2
HG03195.hp1
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03540.hp2
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
 3_prime_UTR_variant MODIFIER c.*2397_*2409delTTAA
others(9): Show 
c.*2397_*2409delTTAATTCATGATT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 2397 INFO_REALIGN_3_PRIME chr20 13167241
chr20:13167302 ATAATTAT
others(44): Show 
ATAATTATATCATCAACCATTACCCTCTACATCACCGCCCCGACCTTAGC
TC
 A
A
 7 a0001c0001t0033
a0001c0001t0039
a0001c0001t0045
others(4): Show 
a0001c0001t0033
a0001c0001t0039
a0001c0001t0045
a0001c0001t0056
a0001c0001t0057
a0001c0004t0042
a0002c0002t0062
 7 HG01071.hp2
HG02015.hp2
HG02071.hp1
others(4): Show 
HG01071.hp2
HG02015.hp2
HG02071.hp1
HG02559.hp2
NA18956.hp1
NA18990.hp2
NA19086.hp2
 3_prime_UTR_variant MODIFIER c.*2447_*2497delTCAA
others(47): Show 
c.*2447_*2497delTCAACCATTACCCTCTACATCACCGCCCCGACCT
TAGCTCTAATTATATCA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 2447 INFO_REALIGN_3_PRIME chr20 13167302
chr20:13167426 G
G
 T
T
 5 a0001c0001t0022
a0001c0001t0054
a0001c0001t0055
others(2): Show 
a0001c0001t0022
a0001c0001t0054
a0001c0001t0055
a0001c0004t0040
a0002c0002t0031
 6 HG01168.hp1
HG01192.hp1
HG02258.hp2
others(3): Show 
HG01168.hp1
HG01192.hp1
HG02258.hp2
HG03017.hp1
HG04115.hp2
NA18948.hp2
 3_prime_UTR_variant MODIFIER c.*2559G>T
c.*2559G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 2559 chr20 13167426
chr20:13167505 C
C
 G
G
 59 a0001c0001t0002
a0001c0001t0003
a0001c0001t0005
others(56): Show 
a0001c0001t0002
a0001c0001t0003
a0001c0001t0005
a0001c0001t0007
a0001c0001t0010
a0001c0001t0012
a0001c0001t0016
a0001c0001t0018
a0001c0001t0022
a0001c0001t0027
a0001c0001t0033
a0001c0001t0039
a0001c0001t0045
a0001c0001t0054
a0001c0001t0055
a0001c0001t0056
a0001c0001t0057
a0001c0001t0059
a0001c0003t0005
a0001c0003t0006
a0001c0003t0010
a0001c0003t0011
a0001c0003t0012
a0001c0003t0028
a0001c0003t0029
a0001c0003t0032
a0001c0003t0049
a0001c0003t0058
a0001c0004t0003
a0001c0004t0016
a0001c0004t0017
a0001c0004t0040
a0001c0004t0042
a0001c0005t0003
a0001c0005t0005
a0001c0005t0010
a0001c0005t0016
a0001c0005t0018
a0001c0009t0005
a0001c0009t0011
a0001c0014t0005
a0002c0002t0002
a0002c0002t0003
a0002c0002t0007
a0002c0002t0016
a0002c0002t0031
a0002c0002t0034
a0002c0002t0035
a0002c0002t0043
a0002c0002t0062
a0002c0006t0005
a0002c0006t0006
a0002c0018t0002
a0003c0007t0006
a0004c0008t0005
a0004c0008t0006
a0004c0008t0028
a0005c0010t0037
a0008c0015t0002
 158 HG00140.hp1
HG00323.hp2
HG00408.hp2
others(155): Show 
HG00140.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01258.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03239.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04199.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp1
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA19001.hp2
NA19004.hp2
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19060.hp2
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*2638C>G
c.*2638C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 2638 chr20 13167505
chr20:13167719 C
C
 T
T
 1 a0001c0001t0059
a0001c0001t0059
 1 NA19030.hp1
NA19030.hp1
 3_prime_UTR_variant MODIFIER c.*2852C>T
c.*2852C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 2852 chr20 13167719
chr20:13167956 T
T
 G
G
 1 a0001c0003t0058
a0001c0003t0058
 1 HG02280.hp1
HG02280.hp1
 3_prime_UTR_variant MODIFIER c.*3089T>G
c.*3089T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 3089 chr20 13167956
chr20:13168056 T
T
 G
G
 7 a0001c0001t0033
a0001c0001t0039
a0001c0001t0045
others(4): Show 
a0001c0001t0033
a0001c0001t0039
a0001c0001t0045
a0001c0001t0056
a0001c0001t0057
a0001c0004t0042
a0002c0002t0062
 7 HG01071.hp2
HG02015.hp2
HG02071.hp1
others(4): Show 
HG01071.hp2
HG02015.hp2
HG02071.hp1
HG02559.hp2
NA18956.hp1
NA18990.hp2
NA19086.hp2
 3_prime_UTR_variant MODIFIER c.*3189T>G
c.*3189T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 3189 chr20 13168056
chr20:13168079 T
T
 G
G
 6 a0001c0001t0012
a0001c0001t0059
a0001c0003t0011
others(3): Show 
a0001c0001t0012
a0001c0001t0059
a0001c0003t0011
a0001c0003t0012
a0001c0003t0058
a0001c0009t0011
 15 HG01106.hp2
HG01109.hp2
HG02280.hp1
others(12): Show 
HG01106.hp2
HG01109.hp2
HG02280.hp1
HG02486.hp2
HG03195.hp1
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03540.hp2
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
 3_prime_UTR_variant MODIFIER c.*3212T>G
c.*3212T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 3212 chr20 13168079
chr20:13168082 G
G
 A
A
 3 a0001c0001t0015
a0001c0012t0023
a0005c0011t0023
a0001c0001t0015
a0001c0012t0023
a0005c0011t0023
 7 HG01243.hp1
HG02055.hp2
HG02145.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02145.hp2
HG02451.hp1
HG02895.hp2
HG03471.hp1
NA18522.hp2
 3_prime_UTR_variant MODIFIER c.*3215G>A
c.*3215G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 3215 chr20 13168082
chr20:13168159 G
G
 C
C
 5 a0001c0001t0033
a0001c0001t0045
a0001c0001t0056
others(2): Show 
a0001c0001t0033
a0001c0001t0045
a0001c0001t0056
a0001c0004t0042
a0002c0002t0062
 5 HG02071.hp1
HG02559.hp2
NA18956.hp1
others(2): Show 
HG02071.hp1
HG02559.hp2
NA18956.hp1
NA18990.hp2
NA19086.hp2
 3_prime_UTR_variant MODIFIER c.*3292G>C
c.*3292G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 3292 chr20 13168159
chr20:13168180 CT
CT
 C
C
 9 a0001c0001t0016
a0001c0001t0019
a0001c0001t0051
others(6): Show 
a0001c0001t0016
a0001c0001t0019
a0001c0001t0051
a0001c0004t0016
a0001c0004t0065
a0001c0005t0016
a0002c0002t0016
a0002c0002t0034
a0002c0002t0035
 11 HG00323.hp1
HG00639.hp1
HG00738.hp2
others(8): Show 
HG00323.hp1
HG00639.hp1
HG00738.hp2
HG01167.hp2
HG01168.hp2
HG01515.hp1
HG02280.hp2
HG02922.hp2
HG03209.hp1
NA19011.hp1
NA19062.hp1
 3_prime_UTR_variant MODIFIER c.*3330delT
c.*3330delT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 3330 INFO_REALIGN_3_PRIME chr20 13168180
chr20:13168180 CTT
CTT
 C
C
 27 a0001c0001t0005
a0001c0001t0010
a0001c0001t0012
others(24): Show 
a0001c0001t0005
a0001c0001t0010
a0001c0001t0012
a0001c0001t0022
a0001c0001t0054
a0001c0001t0059
a0001c0003t0005
a0001c0003t0006
a0001c0003t0010
a0001c0003t0011
a0001c0003t0012
a0001c0003t0029
a0001c0003t0032
a0001c0003t0049
a0001c0003t0058
a0001c0004t0040
a0001c0005t0005
a0001c0005t0010
a0001c0009t0005
a0001c0009t0011
a0001c0014t0005
a0002c0002t0031
a0002c0006t0005
a0002c0006t0006
a0003c0007t0006
a0004c0008t0005
a0004c0008t0006
 69 HG00642.hp2
HG00673.hp1
HG01069.hp1
others(66): Show 
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01106.hp2
HG01109.hp2
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp2
HG01496.hp2
HG01516.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG02056.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02293.hp2
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02622.hp1
HG02647.hp1
HG03017.hp1
HG03195.hp1
HG03209.hp2
HG03239.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04199.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp1
NA18943.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18985.hp1
NA18988.hp2
NA19001.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19060.hp2
NA19074.hp2
NA19077.hp1
NA19240.hp2
NA20129.hp2
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*3329_*3330delTT
c.*3329_*3330delTT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 3329 INFO_REALIGN_3_PRIME chr20 13168180
chr20:13168184 T
T
 C
C
 15 a0001c0001t0002
a0001c0001t0003
a0001c0001t0007
others(12): Show 
a0001c0001t0002
a0001c0001t0003
a0001c0001t0007
a0001c0001t0018
a0001c0004t0003
a0001c0004t0017
a0001c0005t0003
a0001c0005t0018
a0002c0002t0002
a0002c0002t0003
a0002c0002t0007
a0002c0002t0043
a0002c0018t0002
a0005c0010t0037
a0008c0015t0002
 71 HG00140.hp1
HG00323.hp2
HG00408.hp2
others(68): Show 
HG00140.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01123.hp2
HG01167.hp1
HG01192.hp2
HG01261.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02109.hp2
HG02135.hp1
HG02293.hp1
HG02486.hp1
HG02723.hp1
HG03017.hp2
HG03130.hp2
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03831.hp1
HG04204.hp2
HG04228.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18965.hp1
NA18967.hp2
NA18970.hp2
NA18971.hp2
NA18977.hp1
NA18981.hp1
NA18982.hp2
NA18990.hp1
NA19004.hp2
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19057.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19077.hp2
NA19086.hp1
NA19089.hp1
NA19091.hp2
NA20300.hp2
NA20805.hp1
 3_prime_UTR_variant MODIFIER c.*3317T>C
c.*3317T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 3317 chr20 13168184
chr20:13168185 T
T
 C
C
 1 a0002c0002t0034
a0002c0002t0034
 1 NA19062.hp1
NA19062.hp1
 3_prime_UTR_variant MODIFIER c.*3318T>C
c.*3318T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 3318 chr20 13168185
chr20:13168189 T
T
 C
C
 2 a0001c0001t0018
a0001c0005t0018
a0001c0001t0018
a0001c0005t0018
 3 HG00140.hp1
HG00323.hp2
HG00642.hp1
HG00140.hp1
HG00323.hp2
HG00642.hp1
 3_prime_UTR_variant MODIFIER c.*3322T>C
c.*3322T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 3322 chr20 13168189
chr20:13168253 G
G
 A
A
 5 a0001c0001t0033
a0001c0001t0045
a0001c0001t0056
others(2): Show 
a0001c0001t0033
a0001c0001t0045
a0001c0001t0056
a0001c0004t0042
a0002c0002t0062
 5 HG02071.hp1
HG02559.hp2
NA18956.hp1
others(2): Show 
HG02071.hp1
HG02559.hp2
NA18956.hp1
NA18990.hp2
NA19086.hp2
 3_prime_UTR_variant MODIFIER c.*3386G>A
c.*3386G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 3386 chr20 13168253
chr20:13168462 C
C
 T
T
 2 a0001c0001t0039
a0001c0001t0057
a0001c0001t0039
a0001c0001t0057
 2 HG01071.hp2
HG02015.hp2
HG01071.hp2
HG02015.hp2
 3_prime_UTR_variant MODIFIER c.*3595C>T
c.*3595C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 3595 chr20 13168462
chr20:13168469 C
C
 T
T
 2 a0001c0001t0063
a0001c0005t0048
a0001c0001t0063
a0001c0005t0048
 2 HG03139.hp1
NA19043.hp2
HG03139.hp1
NA19043.hp2
 3_prime_UTR_variant MODIFIER c.*3602C>T
c.*3602C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 3602 chr20 13168469
chr20:13168537 C
C
 G
G
 2 a0001c0001t0063
a0001c0005t0048
a0001c0001t0063
a0001c0005t0048
 2 HG03139.hp1
NA19043.hp2
HG03139.hp1
NA19043.hp2
 3_prime_UTR_variant MODIFIER c.*3670C>G
c.*3670C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 3670 chr20 13168537
chr20:13168586 C
C
 A
A
 2 a0001c0003t0029
a0001c0003t0032
a0001c0003t0029
a0001c0003t0032
 3 HG03654.hp2
HG03669.hp1
HG04199.hp2
HG03654.hp2
HG03669.hp1
HG04199.hp2
 3_prime_UTR_variant MODIFIER c.*3719C>A
c.*3719C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 3719 chr20 13168586
chr20:13168603 C
C
 T
T
 1 a0001c0001t0061
a0001c0001t0061
 1 HG00741.hp2
HG00741.hp2
 3_prime_UTR_variant MODIFIER c.*3736C>T
c.*3736C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 3736 chr20 13168603
chr20:13168620 T
T
 G
G
 1 a0001c0003t0058
a0001c0003t0058
 1 HG02280.hp1
HG02280.hp1
 3_prime_UTR_variant MODIFIER c.*3753T>G
c.*3753T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 3753 chr20 13168620
chr20:13168910 G
G
 A
A
 1 a0002c0002t0026
a0002c0002t0026
 2 HG02895.hp1
HG02897.hp2
HG02895.hp1
HG02897.hp2
 3_prime_UTR_variant MODIFIER c.*4043G>A
c.*4043G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 4043 chr20 13168910
chr20:13168939 C
C
 T
T
 1 a0001c0001t0027
a0001c0001t0027
 2 HG02630.hp2
HG03041.hp2
HG02630.hp2
HG03041.hp2
 3_prime_UTR_variant MODIFIER c.*4072C>T
c.*4072C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 4072 chr20 13168939
chr20:13168951 A
A
 ATG
ATG
 5 a0001c0001t0033
a0001c0001t0045
a0001c0001t0056
others(2): Show 
a0001c0001t0033
a0001c0001t0045
a0001c0001t0056
a0001c0004t0042
a0002c0002t0062
 5 HG02071.hp1
HG02559.hp2
NA18956.hp1
others(2): Show 
HG02071.hp1
HG02559.hp2
NA18956.hp1
NA18990.hp2
NA19086.hp2
 3_prime_UTR_variant MODIFIER c.*4103_*4104dupTG
c.*4103_*4104dupTG
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 4105 INFO_REALIGN_3_PRIME chr20 13168951
chr20:13168951 A
A
 ATGTG
ATGTG
 7 a0001c0001t0016
a0001c0001t0039
a0001c0001t0057
others(4): Show 
a0001c0001t0016
a0001c0001t0039
a0001c0001t0057
a0001c0004t0016
a0001c0005t0016
a0002c0002t0016
a0002c0002t0035
 7 HG00639.hp1
HG00738.hp2
HG01071.hp2
others(4): Show 
HG00639.hp1
HG00738.hp2
HG01071.hp2
HG01168.hp2
HG01515.hp1
HG02015.hp2
HG02280.hp2
 3_prime_UTR_variant MODIFIER c.*4101_*4104dupTGTG
c.*4101_*4104dupTGTG
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 4105 INFO_REALIGN_3_PRIME chr20 13168951
chr20:13168958 T
T
 G
G
 1 a0001c0003t0058
a0001c0003t0058
 1 HG02280.hp1
HG02280.hp1
 3_prime_UTR_variant MODIFIER c.*4091T>G
c.*4091T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 4091 chr20 13168958
chr20:13168981 T
T
 G
G
 61 a0001c0001t0002
a0001c0001t0003
a0001c0001t0005
others(58): Show 
a0001c0001t0002
a0001c0001t0003
a0001c0001t0005
a0001c0001t0007
a0001c0001t0010
a0001c0001t0012
a0001c0001t0016
a0001c0001t0018
a0001c0001t0022
a0001c0001t0027
a0001c0001t0033
a0001c0001t0039
a0001c0001t0044
a0001c0001t0045
a0001c0001t0054
a0001c0001t0055
a0001c0001t0056
a0001c0001t0057
a0001c0001t0059
a0001c0001t0061
a0001c0003t0005
a0001c0003t0006
a0001c0003t0010
a0001c0003t0011
a0001c0003t0012
a0001c0003t0028
a0001c0003t0029
a0001c0003t0032
a0001c0003t0049
a0001c0003t0058
a0001c0004t0003
a0001c0004t0016
a0001c0004t0017
a0001c0004t0040
a0001c0004t0042
a0001c0005t0003
a0001c0005t0005
a0001c0005t0010
a0001c0005t0016
a0001c0005t0018
a0001c0009t0005
a0001c0009t0011
a0001c0014t0005
a0002c0002t0002
a0002c0002t0003
a0002c0002t0007
a0002c0002t0016
a0002c0002t0031
a0002c0002t0034
a0002c0002t0035
a0002c0002t0043
a0002c0002t0062
a0002c0006t0005
a0002c0006t0006
a0002c0018t0002
a0003c0007t0006
a0004c0008t0005
a0004c0008t0006
a0004c0008t0028
a0005c0010t0037
a0008c0015t0002
 160 HG00140.hp1
HG00323.hp2
HG00408.hp2
others(157): Show 
HG00140.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01258.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03239.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04199.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp1
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA19001.hp2
NA19004.hp2
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19060.hp2
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*4114T>G
c.*4114T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 4114 chr20 13168981
chr20:13169007 AATGT
AATGT
 A
A
 19 a0001c0001t0009
a0001c0001t0013
a0001c0001t0015
others(16): Show 
a0001c0001t0009
a0001c0001t0013
a0001c0001t0015
a0001c0001t0030
a0001c0001t0051
a0001c0004t0009
a0001c0004t0065
a0001c0005t0009
a0001c0005t0025
a0001c0005t0030
a0001c0005t0047
a0001c0012t0023
a0002c0002t0013
a0002c0002t0026
a0002c0002t0036
a0002c0002t0052
a0005c0011t0023
a0006c0016t0064
a0007c0017t0013
 33 HG00280.hp1
HG00323.hp1
HG00738.hp1
others(30): Show 
HG00280.hp1
HG00323.hp1
HG00738.hp1
HG01106.hp1
HG01109.hp1
HG01243.hp1
HG01258.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG01516.hp2
HG01978.hp2
HG02055.hp2
HG02109.hp1
HG02145.hp2
HG02155.hp1
HG02451.hp1
HG02602.hp2
HG02615.hp2
HG02723.hp2
HG02738.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp2
HG03195.hp2
HG03471.hp1
HG04199.hp1
HG04204.hp1
NA18522.hp2
NA18988.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*4145_*4148delATGT
c.*4145_*4148delATGT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 12/12 4145 INFO_REALIGN_3_PRIME chr20 13169007

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
chr20:13009396 T
T
 C
C
 148 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(145): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0011g0082
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0047g0068
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 148 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(145): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG01069.hp2
HG01071.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02132.hp2
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02486.hp2
HG02602.hp1
HG02615.hp2
HG02647.hp1
HG02738.hp2
HG03017.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03491.hp1
HG03516.hp1
HG03654.hp1
HG03669.hp2
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+12T>C
c.117+12T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13009396
chr20:13009409 T
T
 A
A
 67 a0001c0001t0001g0052
a0001c0001t0002g0003
a0001c0001t0002g0011
others(64): Show 
a0001c0001t0001g0052
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0019g0053
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0032g0022
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 67 HG00423.hp2
HG00438.hp1
HG00621.hp1
others(64): Show 
HG00423.hp2
HG00438.hp1
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG01168.hp2
HG01258.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02135.hp2
HG02258.hp1
HG02293.hp2
HG02451.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA19004.hp1
NA19010.hp2
NA19011.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19068.hp2
NA19070.hp1
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+25T>A
c.117+25T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13009409
chr20:13009411 T
T
 G
G
 13 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
others(10): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0003g0157
a0001c0001t0019g0160
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0005t0009g0151
a0001c0009t0011g0161
 13 HG01106.hp2
HG01167.hp2
HG02723.hp2
others(10): Show 
HG01106.hp2
HG01167.hp2
HG02723.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03195.hp1
HG03471.hp2
HG03516.hp2
HG06807.hp2
NA18522.hp1
NA19030.hp2
 intron_variant MODIFIER c.117+27T>G
c.117+27T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13009411
chr20:13009414 G
G
 C
C
 6 a0001c0001t0045g0163
a0001c0003t0011g0162
a0001c0005t0048g0164
others(3): Show 
a0001c0001t0045g0163
a0001c0003t0011g0162
a0001c0005t0048g0164
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 6 HG01884.hp1
HG02451.hp1
HG02559.hp2
others(3): Show 
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp1
HG03540.hp1
 intron_variant MODIFIER c.117+30G>C
c.117+30G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13009414
chr20:13009435 A
A
 G
G
 1 a0001c0001t0001g0292
a0001c0001t0001g0292
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.117+51A>G
c.117+51A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13009435
chr20:13009541 C
C
 G
G
 1 a0001c0001t0004g0291
a0001c0001t0004g0291
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.117+157C>G
c.117+157C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13009541
chr20:13009564 G
G
 A
A
 154 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(151): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0011g0082
a0001c0003t0011g0162
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0005c0010t0037g0167
a0005c0011t0023g0166
a0007c0017t0013g0049
a0008c0015t0002g0050
 154 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(151): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG01069.hp2
HG01071.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp1
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02132.hp2
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG03017.hp2
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03654.hp1
HG03669.hp2
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+180G>A
c.117+180G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13009564
chr20:13009617 C
C
 T
T
 78 a0001c0001t0001g0292
a0001c0001t0004g0219
a0001c0001t0004g0222
others(75): Show 
a0001c0001t0001g0292
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0065g0284
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0010g0231
a0001c0005t0030g0285
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0062g0280
a0004c0008t0028g0276
a0006c0016t0064g0248
 78 HG00408.hp2
HG00735.hp1
HG00741.hp2
others(75): Show 
HG00408.hp2
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01109.hp2
HG01243.hp1
HG01261.hp2
HG01358.hp1
HG01516.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02486.hp1
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
NA18522.hp2
NA18944.hp2
NA18945.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18970.hp2
NA18973.hp2
NA18990.hp2
NA19001.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp2
NA19068.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.117+233C>T
c.117+233C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13009617
chr20:13009716 T
T
 C
C
 77 a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
others(74): Show 
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0065g0284
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0010g0231
a0001c0005t0030g0285
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0062g0280
a0004c0008t0028g0276
a0006c0016t0064g0248
 77 HG00408.hp2
HG00735.hp1
HG00741.hp2
others(74): Show 
HG00408.hp2
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01109.hp2
HG01243.hp1
HG01261.hp2
HG01358.hp1
HG01516.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02486.hp1
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03195.hp2
HG03209.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
NA18522.hp2
NA18944.hp2
NA18945.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18970.hp2
NA18973.hp2
NA18990.hp2
NA19001.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp2
NA19068.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.117+332T>C
c.117+332T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13009716
chr20:13009834 A
A
 T
T
 77 a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
others(74): Show 
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0065g0284
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0010g0231
a0001c0005t0030g0285
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0062g0280
a0004c0008t0028g0276
a0006c0016t0064g0248
 77 HG00408.hp2
HG00735.hp1
HG00741.hp2
others(74): Show 
HG00408.hp2
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01109.hp2
HG01243.hp1
HG01261.hp2
HG01358.hp1
HG01516.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02486.hp1
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03195.hp2
HG03209.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
NA18522.hp2
NA18944.hp2
NA18945.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18970.hp2
NA18973.hp2
NA18990.hp2
NA19001.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp2
NA19068.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.117+450A>T
c.117+450A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13009834
chr20:13009851 T
T
 A
A
 1 a0002c0002t0031g0001
a0002c0002t0031g0001
 1 NA18948.hp2
NA18948.hp2
 intron_variant MODIFIER c.117+467T>A
c.117+467T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13009851
chr20:13009901 G
G
 A
A
 1 a0003c0007t0006g0002
a0003c0007t0006g0002
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.117+517G>A
c.117+517G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13009901
chr20:13010044 T
T
 C
C
 13 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
others(10): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0003g0157
a0001c0001t0019g0160
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0005t0009g0151
a0001c0009t0011g0161
 13 HG01106.hp2
HG01167.hp2
HG02723.hp2
others(10): Show 
HG01106.hp2
HG01167.hp2
HG02723.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03195.hp1
HG03471.hp2
HG03516.hp2
HG06807.hp2
NA18522.hp1
NA19030.hp2
 intron_variant MODIFIER c.117+660T>C
c.117+660T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13010044
chr20:13010053 TC
TC
 T
T
 90 a0001c0001t0001g0052
a0001c0001t0002g0003
a0001c0001t0002g0011
others(87): Show 
a0001c0001t0001g0052
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0291
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0019g0053
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0063g0232
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0032g0022
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0010g0231
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 90 HG00423.hp2
HG00438.hp1
HG00621.hp1
others(87): Show 
HG00423.hp2
HG00438.hp1
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG01168.hp2
HG01258.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01891.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02293.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02622.hp1
HG02630.hp1
HG02647.hp2
HG02723.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03486.hp1
HG03486.hp2
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18944.hp1
NA18946.hp1
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA19004.hp1
NA19010.hp2
NA19011.hp2
NA19043.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19068.hp2
NA19070.hp1
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+670delC
c.117+670delC
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13010053
chr20:13010054 C
C
 T
T
 155 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(152): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0292
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0016g0114
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0004c0008t0005g0140
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
 155 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(152): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18982.hp2
NA18990.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp2
NA19063.hp2
NA19066.hp1
NA19068.hp1
NA19074.hp2
NA19240.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.117+670C>T
c.117+670C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13010054
chr20:13010069 G
G
 A
A
 2 a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0004g0238
a0001c0001t0007g0237
 2 HG02622.hp2
NA20805.hp1
HG02622.hp2
NA20805.hp1
 intron_variant MODIFIER c.117+685G>A
c.117+685G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13010069
chr20:13010189 T
T
 C
C
 232 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(229): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 232 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(229): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp1
NA19004.hp1
NA19004.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+805T>C
c.117+805T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13010189
chr20:13010335 G
G
 A
A
 2 a0001c0005t0005g0069
a0001c0005t0047g0068
a0001c0005t0005g0069
a0001c0005t0047g0068
 2 HG02615.hp2
HG06807.hp1
HG02615.hp2
HG06807.hp1
 intron_variant MODIFIER c.117+951G>A
c.117+951G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13010335
chr20:13010350 C
C
 A
A
 1 a0001c0001t0001g0292
a0001c0001t0001g0292
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.117+966C>A
c.117+966C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13010350
chr20:13010429 G
G
 A
A
 6 a0001c0001t0045g0163
a0001c0003t0011g0162
a0001c0005t0048g0164
others(3): Show 
a0001c0001t0045g0163
a0001c0003t0011g0162
a0001c0005t0048g0164
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 6 HG01884.hp1
HG02451.hp1
HG02559.hp2
others(3): Show 
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp1
HG03540.hp1
 intron_variant MODIFIER c.117+1045G>A
c.117+1045G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13010429
chr20:13010438 A
A
 G
G
 2 a0001c0005t0005g0069
a0001c0005t0047g0068
a0001c0005t0005g0069
a0001c0005t0047g0068
 2 HG02615.hp2
HG06807.hp1
HG02615.hp2
HG06807.hp1
 intron_variant MODIFIER c.117+1054A>G
c.117+1054A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13010438
chr20:13010462 A
A
 G
G
 83 a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
others(80): Show 
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0045g0163
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0065g0284
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0010g0231
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0012t0023g0165
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0062g0280
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
 83 HG00408.hp2
HG00735.hp1
HG00741.hp2
others(80): Show 
HG00408.hp2
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01109.hp2
HG01243.hp1
HG01261.hp2
HG01358.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
NA18522.hp2
NA18944.hp2
NA18945.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18970.hp2
NA18973.hp2
NA18990.hp2
NA19001.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp2
NA19068.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.117+1078A>G
c.117+1078A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13010462
chr20:13010465 G
G
 A
A
 6 a0001c0001t0045g0163
a0001c0003t0011g0162
a0001c0005t0048g0164
others(3): Show 
a0001c0001t0045g0163
a0001c0003t0011g0162
a0001c0005t0048g0164
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 6 HG01884.hp1
HG02451.hp1
HG02559.hp2
others(3): Show 
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp1
HG03540.hp1
 intron_variant MODIFIER c.117+1081G>A
c.117+1081G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13010465
chr20:13010492 G
G
 A
A
 3 a0001c0001t0045g0163
a0001c0003t0011g0162
a0001c0005t0048g0164
a0001c0001t0045g0163
a0001c0003t0011g0162
a0001c0005t0048g0164
 3 HG02559.hp2
HG03139.hp1
HG03540.hp1
HG02559.hp2
HG03139.hp1
HG03540.hp1
 intron_variant MODIFIER c.117+1108G>A
c.117+1108G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13010492
chr20:13010812 C
C
 T
T
 1 a0001c0003t0010g0236
a0001c0003t0010g0236
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.117+1428C>T
c.117+1428C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13010812
chr20:13010888 T
T
 C
C
 96 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
others(93): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0003g0157
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0160
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0045g0163
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0065g0284
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0012t0023g0165
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0062g0280
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
 96 HG00408.hp2
HG00735.hp1
HG00741.hp2
others(93): Show 
HG00408.hp2
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01261.hp2
HG01358.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18944.hp2
NA18945.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18970.hp2
NA18973.hp2
NA18990.hp2
NA19001.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp2
NA19068.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.117+1504T>C
c.117+1504T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13010888
chr20:13010915 C
C
 T
T
 1 a0001c0001t0002g0067
a0001c0001t0002g0067
 1 NA19077.hp2
NA19077.hp2
 intron_variant MODIFIER c.117+1531C>T
c.117+1531C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13010915
chr20:13010956 G
G
 A
A
 1 a0001c0001t0002g0003
a0001c0001t0002g0003
 1 NA18944.hp1
NA18944.hp1
 intron_variant MODIFIER c.117+1572G>A
c.117+1572G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13010956
chr20:13010978 G
G
 A
A
 2 a0001c0005t0005g0069
a0001c0005t0047g0068
a0001c0005t0005g0069
a0001c0005t0047g0068
 2 HG02615.hp2
HG06807.hp1
HG02615.hp2
HG06807.hp1
 intron_variant MODIFIER c.117+1594G>A
c.117+1594G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13010978
chr20:13010991 C
C
 T
T
 91 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
others(88): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0292
a0001c0001t0003g0157
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0160
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0065g0284
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0030g0285
a0001c0009t0011g0161
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0062g0280
a0004c0008t0028g0276
a0006c0016t0064g0248
 91 HG00408.hp2
HG00735.hp1
HG00741.hp2
others(88): Show 
HG00408.hp2
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01261.hp2
HG01358.hp1
HG01516.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02486.hp1
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18944.hp2
NA18945.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18970.hp2
NA18973.hp2
NA18990.hp2
NA19001.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp2
NA19068.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.117+1607C>T
c.117+1607C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13010991
chr20:13011059 T
T
 A
A
 5 a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
others(2): Show 
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
 5 HG01884.hp2
HG02055.hp1
HG02109.hp2
others(2): Show 
HG01884.hp2
HG02055.hp1
HG02109.hp2
HG02622.hp2
NA20805.hp1
 intron_variant MODIFIER c.117+1675T>A
c.117+1675T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13011059
chr20:13011138 C
C
 T
T
 85 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(82): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0011g0082
a0001c0003t0011g0162
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0048g0164
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0016g0114
a0002c0002t0052g0087
a0002c0006t0005g0086
a0004c0008t0005g0140
a0005c0010t0037g0167
a0005c0011t0023g0166
 85 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(82): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG01069.hp2
HG01071.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp2
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp1
HG01891.hp1
HG01975.hp2
HG01978.hp2
HG02015.hp1
HG02080.hp1
HG02132.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02602.hp1
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG03017.hp2
HG03139.hp1
HG03239.hp2
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03654.hp1
HG03669.hp2
HG04228.hp2
NA18747.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18971.hp2
NA18973.hp1
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19004.hp2
NA19011.hp1
NA19066.hp1
NA19074.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.117+1754C>T
c.117+1754C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13011138
chr20:13011151 C
C
 T
T
 2 a0002c0002t0021g0065
a0003c0007t0006g0066
a0002c0002t0021g0065
a0003c0007t0006g0066
 2 HG02293.hp2
NA20752.hp1
HG02293.hp2
NA20752.hp1
 intron_variant MODIFIER c.117+1767C>T
c.117+1767C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13011151
chr20:13011153 C
C
 T
T
 1 a0001c0001t0009g0148
a0001c0001t0009g0148
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.117+1769C>T
c.117+1769C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13011153
chr20:13011158 G
G
 A
A
 1 a0001c0003t0005g0168
a0001c0003t0005g0168
 1 HG02056.hp1
HG02056.hp1
 intron_variant MODIFIER c.117+1774G>A
c.117+1774G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13011158
chr20:13011182 C
C
 T
T
 85 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(82): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0011g0082
a0001c0003t0011g0162
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0048g0164
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0016g0114
a0002c0002t0052g0087
a0002c0006t0005g0086
a0004c0008t0005g0140
a0005c0010t0037g0167
a0005c0011t0023g0166
 85 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(82): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG01069.hp2
HG01071.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp2
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp1
HG01891.hp1
HG01975.hp2
HG01978.hp2
HG02015.hp1
HG02080.hp1
HG02132.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02602.hp1
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG03017.hp2
HG03139.hp1
HG03239.hp2
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03654.hp1
HG03669.hp2
HG04228.hp2
NA18747.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18971.hp2
NA18973.hp1
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19004.hp2
NA19011.hp1
NA19066.hp1
NA19074.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.117+1798C>T
c.117+1798C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13011182
chr20:13011232 A
A
 C
C
 85 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(82): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0011g0082
a0001c0003t0011g0162
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0048g0164
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0016g0114
a0002c0002t0052g0087
a0002c0006t0005g0086
a0004c0008t0005g0140
a0005c0010t0037g0167
a0005c0011t0023g0166
 85 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(82): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG01069.hp2
HG01071.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp2
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp1
HG01891.hp1
HG01975.hp2
HG01978.hp2
HG02015.hp1
HG02080.hp1
HG02132.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02602.hp1
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG03017.hp2
HG03139.hp1
HG03239.hp2
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03654.hp1
HG03669.hp2
HG04228.hp2
NA18747.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18971.hp2
NA18973.hp1
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19004.hp2
NA19011.hp1
NA19066.hp1
NA19074.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.117+1848A>C
c.117+1848A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13011232
chr20:13011249 G
G
 T
T
 67 a0001c0001t0001g0052
a0001c0001t0002g0003
a0001c0001t0002g0011
others(64): Show 
a0001c0001t0001g0052
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0019g0053
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0032g0022
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 67 HG00423.hp2
HG00438.hp1
HG00621.hp1
others(64): Show 
HG00423.hp2
HG00438.hp1
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG01168.hp2
HG01258.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02135.hp2
HG02258.hp1
HG02293.hp2
HG02451.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA19004.hp1
NA19010.hp2
NA19011.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19068.hp2
NA19070.hp1
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+1865G>T
c.117+1865G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13011249
chr20:13011494 G
G
 A
A
 1 a0001c0001t0001g0292
a0001c0001t0001g0292
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.117+2110G>A
c.117+2110G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13011494
chr20:13011528 T
T
 A
A
 1 a0002c0002t0008g0004
a0002c0002t0008g0004
 1 NA19060.hp1
NA19060.hp1
 intron_variant MODIFIER c.117+2144T>A
c.117+2144T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13011528
chr20:13011556 T
T
 G
G
 2 a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0242
a0001c0001t0004g0243
 2 NA18944.hp2
NA19001.hp1
NA18944.hp2
NA19001.hp1
 intron_variant MODIFIER c.117+2172T>G
c.117+2172T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13011556
chr20:13011590 T
T
 C
C
 1 a0001c0001t0008g0005
a0001c0001t0008g0005
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.117+2206T>C
c.117+2206T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13011590
chr20:13011660 A
A
 T
T
 1 a0001c0001t0059g0290
a0001c0001t0059g0290
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.117+2276A>T
c.117+2276A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13011660
chr20:13011712 T
T
 TA
TA
 67 a0001c0001t0001g0052
a0001c0001t0002g0003
a0001c0001t0002g0011
others(64): Show 
a0001c0001t0001g0052
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0019g0053
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0032g0022
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 67 HG00423.hp2
HG00438.hp1
HG00621.hp1
others(64): Show 
HG00423.hp2
HG00438.hp1
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG01168.hp2
HG01258.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02135.hp2
HG02258.hp1
HG02293.hp2
HG02451.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA19004.hp1
NA19010.hp2
NA19011.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19068.hp2
NA19070.hp1
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+2329dupA
c.117+2329dupA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13011712
chr20:13011735 GT
GT
 G
G
 41 a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
others(38): Show 
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0038g0189
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0009t0005g0186
a0001c0009t0005g0204
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0043g0193
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
 41 HG00423.hp1
HG00609.hp1
HG00738.hp1
others(38): Show 
HG00423.hp1
HG00609.hp1
HG00738.hp1
HG01106.hp1
HG01192.hp2
HG01255.hp2
HG01346.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02132.hp1
HG03017.hp1
HG03491.hp2
HG04199.hp1
NA18747.hp2
NA18943.hp2
NA18948.hp1
NA18949.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18981.hp1
NA18982.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA19000.hp1
NA19001.hp2
NA19010.hp1
NA19012.hp1
NA19012.hp2
NA19060.hp2
NA19062.hp2
NA19066.hp2
NA19070.hp2
NA19074.hp1
NA19089.hp2
 intron_variant MODIFIER c.117+2363delT
c.117+2363delT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13011735
chr20:13012102 T
T
 C
C
 2 a0002c0002t0021g0065
a0003c0007t0006g0066
a0002c0002t0021g0065
a0003c0007t0006g0066
 2 HG02293.hp2
NA20752.hp1
HG02293.hp2
NA20752.hp1
 intron_variant MODIFIER c.117+2718T>C
c.117+2718T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13012102
chr20:13012199 C
C
 G
G
 5 a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
others(2): Show 
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
 5 HG01884.hp2
HG02055.hp1
HG02109.hp2
others(2): Show 
HG01884.hp2
HG02055.hp1
HG02109.hp2
HG02622.hp2
NA20805.hp1
 intron_variant MODIFIER c.117+2815C>G
c.117+2815C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13012199
chr20:13012210 C
C
 A
A
 13 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
others(10): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0003g0157
a0001c0001t0019g0160
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0005t0009g0151
a0001c0009t0011g0161
 13 HG01106.hp2
HG01167.hp2
HG02723.hp2
others(10): Show 
HG01106.hp2
HG01167.hp2
HG02723.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03195.hp1
HG03471.hp2
HG03516.hp2
HG06807.hp2
NA18522.hp1
NA19030.hp2
 intron_variant MODIFIER c.117+2826C>A
c.117+2826C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13012210
chr20:13012308 T
T
 C
C
 2 a0001c0003t0012g0245
a0001c0005t0004g0244
a0001c0003t0012g0245
a0001c0005t0004g0244
 2 HG03041.hp1
NA19240.hp2
HG03041.hp1
NA19240.hp2
 intron_variant MODIFIER c.117+2924T>C
c.117+2924T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13012308
chr20:13012309 T
T
 G
G
 67 a0001c0001t0001g0052
a0001c0001t0002g0003
a0001c0001t0002g0011
others(64): Show 
a0001c0001t0001g0052
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0019g0053
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0032g0022
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 67 HG00423.hp2
HG00438.hp1
HG00621.hp1
others(64): Show 
HG00423.hp2
HG00438.hp1
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG01168.hp2
HG01258.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02135.hp2
HG02258.hp1
HG02293.hp2
HG02451.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA19004.hp1
NA19010.hp2
NA19011.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19068.hp2
NA19070.hp1
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+2925T>G
c.117+2925T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13012309
chr20:13012321 C
C
 T
T
 2 a0005c0010t0037g0167
a0005c0011t0023g0166
a0005c0010t0037g0167
a0005c0011t0023g0166
 2 HG01884.hp1
HG02451.hp1
HG01884.hp1
HG02451.hp1
 intron_variant MODIFIER c.117+2937C>T
c.117+2937C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13012321
chr20:13012475 A
A
 G
G
 3 a0001c0001t0045g0163
a0001c0003t0011g0162
a0001c0005t0048g0164
a0001c0001t0045g0163
a0001c0003t0011g0162
a0001c0005t0048g0164
 3 HG02559.hp2
HG03139.hp1
HG03540.hp1
HG02559.hp2
HG03139.hp1
HG03540.hp1
 intron_variant MODIFIER c.117+3091A>G
c.117+3091A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13012475
chr20:13012576 A
A
 G
G
 3 a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0040g0206
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0040g0206
 3 HG01346.hp2
HG03017.hp1
HG04199.hp1
HG01346.hp2
HG03017.hp1
HG04199.hp1
 intron_variant MODIFIER c.117+3192A>G
c.117+3192A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13012576
chr20:13012669 T
T
 G
G
 1 a0001c0001t0007g0237
a0001c0001t0007g0237
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.117+3285T>G
c.117+3285T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13012669
chr20:13012690 G
G
 A
A
 67 a0001c0001t0001g0052
a0001c0001t0002g0003
a0001c0001t0002g0011
others(64): Show 
a0001c0001t0001g0052
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0019g0053
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0032g0022
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 67 HG00423.hp2
HG00438.hp1
HG00621.hp1
others(64): Show 
HG00423.hp2
HG00438.hp1
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG01168.hp2
HG01258.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02135.hp2
HG02258.hp1
HG02293.hp2
HG02451.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA19004.hp1
NA19010.hp2
NA19011.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19068.hp2
NA19070.hp1
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+3306G>A
c.117+3306G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13012690
chr20:13012697 T
T
 C
C
 67 a0001c0001t0001g0052
a0001c0001t0002g0003
a0001c0001t0002g0011
others(64): Show 
a0001c0001t0001g0052
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0019g0053
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0032g0022
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 67 HG00423.hp2
HG00438.hp1
HG00621.hp1
others(64): Show 
HG00423.hp2
HG00438.hp1
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG01168.hp2
HG01258.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02135.hp2
HG02258.hp1
HG02293.hp2
HG02451.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA19004.hp1
NA19010.hp2
NA19011.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19068.hp2
NA19070.hp1
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+3313T>C
c.117+3313T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13012697
chr20:13012730 C
C
 T
T
 2 a0001c0005t0005g0069
a0001c0005t0047g0068
a0001c0005t0005g0069
a0001c0005t0047g0068
 2 HG02615.hp2
HG06807.hp1
HG02615.hp2
HG06807.hp1
 intron_variant MODIFIER c.117+3346C>T
c.117+3346C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13012730
chr20:13012870 A
A
 G
G
 143 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(140): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0011g0082
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0047g0068
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 143 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(140): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02132.hp2
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02486.hp2
HG02602.hp1
HG02615.hp2
HG02647.hp1
HG02738.hp2
HG03017.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03491.hp1
HG03516.hp1
HG03654.hp1
HG03669.hp2
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+3486A>G
c.117+3486A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13012870
chr20:13013046 T
T
 A
A
 5 a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0014g0074
others(2): Show 
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0046g0071
 5 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(2): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG04228.hp2
NA20805.hp2
 intron_variant MODIFIER c.117+3662T>A
c.117+3662T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13013046
chr20:13013091 C
C
 T
T
 1 a0001c0005t0016g0147
a0001c0005t0016g0147
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.117+3707C>T
c.117+3707C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13013091
chr20:13013232 C
C
 T
T
 76 a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
others(73): Show 
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0065g0284
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0010g0231
a0001c0005t0030g0285
a0001c0009t0011g0161
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0062g0280
a0004c0008t0028g0276
a0006c0016t0064g0248
 76 HG00408.hp2
HG00735.hp1
HG00741.hp2
others(73): Show 
HG00408.hp2
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01109.hp2
HG01243.hp1
HG01261.hp2
HG01358.hp1
HG01516.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02486.hp1
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG03041.hp2
HG03195.hp2
HG03209.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18944.hp2
NA18945.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18970.hp2
NA18973.hp2
NA18990.hp2
NA19001.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp2
NA19068.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.117+3848C>T
c.117+3848C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13013232
chr20:13013245 A
A
 C
C
 67 a0001c0001t0001g0052
a0001c0001t0002g0003
a0001c0001t0002g0011
others(64): Show 
a0001c0001t0001g0052
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0019g0053
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0032g0022
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 67 HG00423.hp2
HG00438.hp1
HG00621.hp1
others(64): Show 
HG00423.hp2
HG00438.hp1
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG01168.hp2
HG01258.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02135.hp2
HG02258.hp1
HG02293.hp2
HG02451.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA19004.hp1
NA19010.hp2
NA19011.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19068.hp2
NA19070.hp1
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+3861A>C
c.117+3861A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13013245
chr20:13013354 T
T
 G
G
 144 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(141): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0011g0082
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0047g0068
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 144 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(141): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02132.hp2
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02486.hp2
HG02602.hp1
HG02615.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG03017.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03491.hp1
HG03516.hp1
HG03654.hp1
HG03669.hp2
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+3970T>G
c.117+3970T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13013354
chr20:13013361 C
C
 T
T
 1 a0001c0004t0017g0205
a0001c0004t0017g0205
 1 NA19012.hp1
NA19012.hp1
 intron_variant MODIFIER c.117+3977C>T
c.117+3977C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13013361
chr20:13013392 C
C
 G
G
 75 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0011g0082
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0016g0114
a0002c0002t0052g0087
a0002c0006t0005g0086
a0004c0008t0005g0140
 75 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(72): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp2
HG01433.hp2
HG01515.hp1
HG01516.hp2
HG01891.hp1
HG01975.hp2
HG01978.hp2
HG02015.hp1
HG02080.hp1
HG02132.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02486.hp2
HG02602.hp1
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG03017.hp2
HG03239.hp2
HG03491.hp1
HG03516.hp1
HG03654.hp1
HG03669.hp2
NA18747.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18971.hp2
NA18973.hp1
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19004.hp2
NA19011.hp1
NA19066.hp1
NA19074.hp2
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.117+4008C>G
c.117+4008C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13013392
chr20:13013396 G
G
 T
T
 144 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(141): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0011g0082
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0047g0068
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 144 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(141): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02132.hp2
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02486.hp2
HG02602.hp1
HG02615.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG03017.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03491.hp1
HG03516.hp1
HG03654.hp1
HG03669.hp2
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+4012G>T
c.117+4012G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13013396
chr20:13013658 T
T
 C
C
 5 a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0014g0074
others(2): Show 
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0046g0071
 5 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(2): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG04228.hp2
NA20805.hp2
 intron_variant MODIFIER c.117+4274T>C
c.117+4274T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13013658
chr20:13013783 C
C
 G
G
 22 a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
others(19): Show 
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0291
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0063g0232
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0010g0231
 22 HG01891.hp2
HG02055.hp2
HG02145.hp1
others(19): Show 
HG01891.hp2
HG02055.hp2
HG02145.hp1
HG02257.hp1
HG02486.hp1
HG02559.hp1
HG02622.hp1
HG02630.hp1
HG02647.hp2
HG02723.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG03209.hp2
HG03486.hp1
HG03486.hp2
NA18522.hp2
NA19043.hp2
NA20129.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.117+4399C>G
c.117+4399C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13013783
chr20:13013839 T
T
 C
C
 142 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(139): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0011g0082
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 142 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(139): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02132.hp2
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02486.hp2
HG02602.hp1
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG03017.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03491.hp1
HG03516.hp1
HG03654.hp1
HG03669.hp2
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+4455T>C
c.117+4455T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13013839
chr20:13013885 C
C
 T
T
 9 a0001c0001t0001g0159
a0001c0001t0003g0070
a0001c0001t0003g0072
others(6): Show 
a0001c0001t0001g0159
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0019g0160
a0001c0001t0044g0073
a0001c0001t0046g0071
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01167.hp2
HG01243.hp2
others(6): Show 
HG00741.hp1
HG01167.hp2
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG04228.hp2
HG06807.hp2
NA20805.hp2
 intron_variant MODIFIER c.117+4501C>T
c.117+4501C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13013885
chr20:13014039 G
G
 A
A
 1 a0001c0005t0047g0068
a0001c0005t0047g0068
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.117+4655G>A
c.117+4655G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13014039
chr20:13014088 CAAGACCT
others(7): Show 
CAAGACCTCTTTTAT
 C
C
 1 a0001c0003t0010g0236
a0001c0003t0010g0236
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.117+4705_117+4718d
others(16): Show 
c.117+4705_117+4718delAAGACCTCTTTTAT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13014088
chr20:13014092 A
A
 G
G
 1 a0001c0001t0021g0064
a0001c0001t0021g0064
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.117+4708A>G
c.117+4708A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13014092
chr20:13014195 A
A
 G
G
 1 a0003c0007t0006g0063
a0003c0007t0006g0063
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.117+4811A>G
c.117+4811A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13014195
chr20:13014200 A
A
 G
G
 2 a0002c0002t0002g0062
a0002c0002t0036g0061
a0002c0002t0002g0062
a0002c0002t0036g0061
 2 NA18957.hp2
NA18988.hp1
NA18957.hp2
NA18988.hp1
 intron_variant MODIFIER c.117+4816A>G
c.117+4816A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13014200
chr20:13014335 G
G
 T
T
 1 a0001c0001t0021g0064
a0001c0001t0021g0064
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.117+4951G>T
c.117+4951G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13014335
chr20:13014465 T
T
 C
C
 144 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(141): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0011g0082
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0047g0068
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 144 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(141): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02132.hp2
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02486.hp2
HG02602.hp1
HG02615.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG03017.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03491.hp1
HG03516.hp1
HG03654.hp1
HG03669.hp2
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+5081T>C
c.117+5081T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13014465
chr20:13014623 A
A
 G
G
 4 a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
others(1): Show 
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0003c0007t0006g0002
 4 HG01258.hp1
HG01433.hp1
HG01496.hp1
others(1): Show 
HG01258.hp1
HG01433.hp1
HG01496.hp1
HG03239.hp1
 intron_variant MODIFIER c.117+5239A>G
c.117+5239A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13014623
chr20:13014692 C
C
 T
T
 149 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(146): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0016g0114
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0004c0008t0005g0140
a0004c0008t0028g0276
a0006c0016t0064g0248
 149 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(146): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03041.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18982.hp2
NA18990.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp2
NA19066.hp1
NA19068.hp1
NA19074.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.117+5308C>T
c.117+5308C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13014692
chr20:13014789 T
T
 A
A
 10 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
others(7): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0005t0009g0151
 10 HG01106.hp2
HG02723.hp2
HG02809.hp1
others(7): Show 
HG01106.hp2
HG02723.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03195.hp1
HG03471.hp2
HG03516.hp2
NA19030.hp2
 intron_variant MODIFIER c.117+5405T>A
c.117+5405T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13014789
chr20:13014789 T
T
 TA
TA
 72 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(69): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0011g0082
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0004t0001g0169
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0016g0114
a0002c0002t0052g0087
a0002c0006t0005g0086
a0004c0008t0005g0140
 72 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(69): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG01071.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp2
HG01433.hp2
HG01515.hp1
HG01516.hp2
HG01891.hp1
HG01975.hp2
HG01978.hp2
HG02015.hp1
HG02080.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02486.hp2
HG02602.hp1
HG02647.hp1
HG02738.hp2
HG03017.hp2
HG03239.hp2
HG03491.hp1
HG03516.hp1
HG03654.hp1
HG03669.hp2
NA18747.hp1
NA18943.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18971.hp2
NA18973.hp1
NA18982.hp2
NA18985.hp2
NA18998.hp2
NA19000.hp2
NA19004.hp2
NA19011.hp1
NA19066.hp1
NA19074.hp2
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.117+5421dupA
c.117+5421dupA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13014789
chr20:13014789 TA
TA
 T
T
 11 a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0004g0288
others(8): Show 
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0004g0288
a0001c0003t0010g0289
a0001c0003t0012g0245
a0001c0005t0004g0235
a0001c0005t0005g0069
a0001c0005t0047g0068
a0001c0009t0005g0204
a0002c0002t0026g0214
a0002c0002t0035g0056
 11 HG01168.hp2
HG02615.hp2
HG02897.hp1
others(8): Show 
HG01168.hp2
HG02615.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp2
HG06807.hp1
NA18946.hp1
NA18948.hp1
NA18959.hp1
NA19063.hp1
NA19240.hp2
 intron_variant MODIFIER c.117+5421delA
c.117+5421delA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13014789
chr20:13014826 G
G
 A
A
 1 a0001c0001t0001g0292
a0001c0001t0001g0292
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.117+5442G>A
c.117+5442G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13014826
chr20:13014969 C
C
 T
T
 3 a0001c0001t0045g0163
a0001c0003t0011g0162
a0001c0005t0048g0164
a0001c0001t0045g0163
a0001c0003t0011g0162
a0001c0005t0048g0164
 3 HG02559.hp2
HG03139.hp1
HG03540.hp1
HG02559.hp2
HG03139.hp1
HG03540.hp1
 intron_variant MODIFIER c.117+5585C>T
c.117+5585C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13014969
chr20:13014970 G
G
 A
A
 1 a0001c0001t0004g0247
a0001c0001t0004g0247
 1 NA19063.hp2
NA19063.hp2
 intron_variant MODIFIER c.117+5586G>A
c.117+5586G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13014970
chr20:13014979 G
G
 C
C
 1 a0002c0002t0008g0006
a0002c0002t0008g0006
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.117+5595G>C
c.117+5595G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13014979
chr20:13015064 T
T
 C
C
 1 a0001c0003t0011g0162
a0001c0003t0011g0162
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.117+5680T>C
c.117+5680T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13015064
chr20:13015081 G
G
 A
A
 4 a0001c0001t0001g0159
a0001c0001t0019g0160
a0005c0010t0037g0167
others(1): Show 
a0001c0001t0001g0159
a0001c0001t0019g0160
a0005c0010t0037g0167
a0005c0011t0023g0166
 4 HG01167.hp2
HG01884.hp1
HG02451.hp1
others(1): Show 
HG01167.hp2
HG01884.hp1
HG02451.hp1
HG06807.hp2
 intron_variant MODIFIER c.117+5697G>A
c.117+5697G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13015081
chr20:13015088 A
A
 G
G
 1 a0005c0010t0037g0167
a0005c0010t0037g0167
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.117+5704A>G
c.117+5704A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13015088
chr20:13015347 G
G
 A
A
 1 a0001c0001t0001g0292
a0001c0001t0001g0292
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.117+5963G>A
c.117+5963G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13015347
chr20:13015348 G
G
 A
A
 12 a0001c0001t0001g0159
a0001c0001t0003g0070
a0001c0001t0003g0072
others(9): Show 
a0001c0001t0001g0159
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0019g0160
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0003t0011g0162
a0001c0005t0048g0164
a0005c0010t0037g0167
a0005c0011t0023g0166
 12 HG00741.hp1
HG01167.hp2
HG01243.hp2
others(9): Show 
HG00741.hp1
HG01167.hp2
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG03139.hp1
HG03540.hp1
HG04228.hp2
HG06807.hp2
NA20805.hp2
 intron_variant MODIFIER c.117+5964G>A
c.117+5964G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13015348
chr20:13015459 G
G
 T
T
 2 a0001c0001t0001g0143
a0001c0001t0003g0142
a0001c0001t0001g0143
a0001c0001t0003g0142
 2 NA18967.hp2
NA19000.hp2
NA18967.hp2
NA19000.hp2
 intron_variant MODIFIER c.117+6075G>T
c.117+6075G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13015459
chr20:13015715 C
C
 A
A
 5 a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0014g0074
others(2): Show 
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0046g0071
 5 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(2): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG04228.hp2
NA20805.hp2
 intron_variant MODIFIER c.117+6331C>A
c.117+6331C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13015715
chr20:13015980 C
C
 T
T
 1 a0002c0018t0002g0054
a0002c0018t0002g0054
 1 NA19086.hp1
NA19086.hp1
 intron_variant MODIFIER c.117+6596C>T
c.117+6596C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13015980
chr20:13016156 C
C
 T
T
 2 a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0233
a0001c0001t0004g0234
 2 HG02647.hp2
NA20129.hp1
HG02647.hp2
NA20129.hp1
 intron_variant MODIFIER c.117+6772C>T
c.117+6772C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13016156
chr20:13016331 A
A
 C
C
 1 a0001c0003t0010g0236
a0001c0003t0010g0236
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.117+6947A>C
c.117+6947A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13016331
chr20:13016349 G
G
 T
T
 1 a0001c0012t0023g0165
a0001c0012t0023g0165
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.117+6965G>T
c.117+6965G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13016349
chr20:13016629 C
C
 T
T
 2 a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0054g0286
a0001c0001t0055g0287
 2 HG02258.hp2
HG04115.hp2
HG02258.hp2
HG04115.hp2
 intron_variant MODIFIER c.117+7245C>T
c.117+7245C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13016629
chr20:13016724 G
G
 A
A
 65 a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
others(62): Show 
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0033g0045
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0032g0022
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0007g0246
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 65 HG00423.hp2
HG00438.hp1
HG00621.hp1
others(62): Show 
HG00423.hp2
HG00438.hp1
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG01168.hp2
HG01258.hp1
HG01261.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02135.hp2
HG02293.hp2
HG02451.hp2
HG03239.hp1
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA19004.hp1
NA19010.hp2
NA19011.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19068.hp2
NA19070.hp1
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+7340G>A
c.117+7340G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13016724
chr20:13016831 A
A
 G
G
 145 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(142): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0011g0082
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0047g0068
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0007g0246
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 145 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(142): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02132.hp2
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02486.hp2
HG02602.hp1
HG02615.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG03017.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03491.hp1
HG03516.hp1
HG03654.hp1
HG03669.hp2
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+7447A>G
c.117+7447A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13016831
chr20:13016857 G
G
 A
A
 3 a0001c0001t0045g0163
a0001c0003t0011g0162
a0001c0005t0048g0164
a0001c0001t0045g0163
a0001c0003t0011g0162
a0001c0005t0048g0164
 3 HG02559.hp2
HG03139.hp1
HG03540.hp1
HG02559.hp2
HG03139.hp1
HG03540.hp1
 intron_variant MODIFIER c.117+7473G>A
c.117+7473G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13016857
chr20:13017080 A
A
 G
G
 1 a0002c0002t0002g0051
a0002c0002t0002g0051
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.117+7696A>G
c.117+7696A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13017080
chr20:13017104 G
G
 A
A
 1 a0001c0004t0001g0169
a0001c0004t0001g0169
 1 NA18985.hp2
NA18985.hp2
 intron_variant MODIFIER c.117+7720G>A
c.117+7720G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13017104
chr20:13017611 G
G
 A
A
 70 a0001c0001t0001g0052
a0001c0001t0002g0003
a0001c0001t0002g0011
others(67): Show 
a0001c0001t0001g0052
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0019g0053
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0032g0022
a0001c0005t0005g0069
a0001c0005t0047g0068
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0007g0246
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 70 HG00423.hp2
HG00438.hp1
HG00621.hp1
others(67): Show 
HG00423.hp2
HG00438.hp1
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG01168.hp2
HG01258.hp1
HG01261.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02135.hp2
HG02258.hp1
HG02293.hp2
HG02451.hp2
HG02615.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA19004.hp1
NA19010.hp2
NA19011.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19068.hp2
NA19070.hp1
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+8227G>A
c.117+8227G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13017611
chr20:13017701 T
T
 G
G
 70 a0001c0001t0001g0052
a0001c0001t0002g0003
a0001c0001t0002g0011
others(67): Show 
a0001c0001t0001g0052
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0019g0053
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0032g0022
a0001c0005t0005g0069
a0001c0005t0047g0068
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0007g0246
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 70 HG00423.hp2
HG00438.hp1
HG00621.hp1
others(67): Show 
HG00423.hp2
HG00438.hp1
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG01168.hp2
HG01258.hp1
HG01261.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02135.hp2
HG02258.hp1
HG02293.hp2
HG02451.hp2
HG02615.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA19004.hp1
NA19010.hp2
NA19011.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19068.hp2
NA19070.hp1
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+8317T>G
c.117+8317T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13017701
chr20:13017839 A
A
 G
G
 1 a0001c0001t0001g0141
a0001c0001t0001g0141
 1 HG00140.hp2
HG00140.hp2
 intron_variant MODIFIER c.117+8455A>G
c.117+8455A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13017839
chr20:13017949 C
C
 A
A
 1 a0001c0001t0051g0075
a0001c0001t0051g0075
 1 HG00323.hp1
HG00323.hp1
 intron_variant MODIFIER c.117+8565C>A
c.117+8565C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13017949
chr20:13018237 G
G
 T
T
 2 a0001c0001t0002g0057
a0008c0015t0002g0050
a0001c0001t0002g0057
a0008c0015t0002g0050
 2 NA18946.hp1
NA18949.hp1
NA18946.hp1
NA18949.hp1
 intron_variant MODIFIER c.117+8853G>T
c.117+8853G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13018237
chr20:13018415 T
T
 C
C
 143 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(140): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0011g0082
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0007g0246
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 143 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(140): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02132.hp2
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02486.hp2
HG02602.hp1
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG03017.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03491.hp1
HG03516.hp1
HG03654.hp1
HG03669.hp2
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+9031T>C
c.117+9031T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13018415
chr20:13018509 T
T
 C
C
 5 a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0014g0074
others(2): Show 
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0046g0071
 5 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(2): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG04228.hp2
NA20805.hp2
 intron_variant MODIFIER c.117+9125T>C
c.117+9125T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13018509
chr20:13018875 C
C
 T
T
 1 a0004c0008t0005g0140
a0004c0008t0005g0140
 1 HG01975.hp2
HG01975.hp2
 intron_variant MODIFIER c.117+9491C>T
c.117+9491C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13018875
chr20:13018890 T
T
 C
C
 145 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(142): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0011g0082
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0047g0068
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0007g0246
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 145 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(142): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02132.hp2
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02486.hp2
HG02602.hp1
HG02615.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG03017.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03491.hp1
HG03516.hp1
HG03654.hp1
HG03669.hp2
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+9506T>C
c.117+9506T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13018890
chr20:13018915 C
C
 T
T
 145 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(142): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0011g0082
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0047g0068
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0007g0246
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 145 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(142): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02132.hp2
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02486.hp2
HG02602.hp1
HG02615.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG03017.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03491.hp1
HG03516.hp1
HG03654.hp1
HG03669.hp2
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+9531C>T
c.117+9531C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13018915
chr20:13019061 T
T
 C
C
 145 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(142): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0011g0082
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0047g0068
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0007g0246
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 145 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(142): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02132.hp2
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02486.hp2
HG02602.hp1
HG02615.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG03017.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03491.hp1
HG03516.hp1
HG03654.hp1
HG03669.hp2
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+9677T>C
c.117+9677T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13019061
chr20:13019078 G
G
 A
A
 68 a0001c0001t0001g0052
a0001c0001t0002g0003
a0001c0001t0002g0011
others(65): Show 
a0001c0001t0001g0052
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0019g0053
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0032g0022
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0007g0246
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 68 HG00423.hp2
HG00438.hp1
HG00621.hp1
others(65): Show 
HG00423.hp2
HG00438.hp1
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG01168.hp2
HG01258.hp1
HG01261.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02135.hp2
HG02258.hp1
HG02293.hp2
HG02451.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA19004.hp1
NA19010.hp2
NA19011.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19068.hp2
NA19070.hp1
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+9694G>A
c.117+9694G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13019078
chr20:13019084 C
C
 T
T
 1 a0001c0004t0009g0139
a0001c0004t0009g0139
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.117+9700C>T
c.117+9700C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13019084
chr20:13019187 A
A
 T
T
 145 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(142): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0011g0082
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0047g0068
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0007g0246
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 145 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(142): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02132.hp2
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02486.hp2
HG02602.hp1
HG02615.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG03017.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03491.hp1
HG03516.hp1
HG03654.hp1
HG03669.hp2
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+9803A>T
c.117+9803A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13019187
chr20:13019409 C
C
 G
G
 245 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(242): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 245 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(242): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp1
NA19004.hp1
NA19004.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+10025C>G
c.117+10025C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13019409
chr20:13019431 T
T
 A
A
 1 a0006c0016t0064g0248
a0006c0016t0064g0248
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.117+10047T>A
c.117+10047T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13019431
chr20:13019460 G
G
 A
A
 145 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(142): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0011g0082
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0047g0068
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0007g0246
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 145 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(142): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02132.hp2
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02486.hp2
HG02602.hp1
HG02615.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG03017.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03491.hp1
HG03516.hp1
HG03654.hp1
HG03669.hp2
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+10076G>A
c.117+10076G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13019460
chr20:13019610 C
C
 T
T
 145 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(142): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0011g0082
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0047g0068
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0007g0246
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 145 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(142): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02132.hp2
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02486.hp2
HG02602.hp1
HG02615.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG03017.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03491.hp1
HG03516.hp1
HG03654.hp1
HG03669.hp2
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+10226C>T
c.117+10226C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13019610
chr20:13019611 C
C
 A
A
 5 a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0014g0074
others(2): Show 
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0046g0071
 5 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(2): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG04228.hp2
NA20805.hp2
 intron_variant MODIFIER c.117+10227C>A
c.117+10227C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13019611
chr20:13019659 C
C
 A
A
 52 a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
others(49): Show 
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0012g0259
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0065g0284
a0001c0005t0030g0285
a0001c0009t0011g0161
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0062g0280
a0004c0008t0028g0276
a0006c0016t0064g0248
 52 HG00408.hp2
HG00735.hp1
HG00741.hp2
others(49): Show 
HG00408.hp2
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01109.hp2
HG01243.hp1
HG01358.hp1
HG01516.hp1
HG01884.hp2
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02056.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp2
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02738.hp1
HG02922.hp2
HG02965.hp2
HG03041.hp2
HG03195.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
NA18522.hp1
NA18944.hp2
NA18945.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18970.hp2
NA18973.hp2
NA18990.hp2
NA19001.hp1
NA19030.hp1
NA19043.hp1
NA19057.hp2
NA19063.hp2
NA19068.hp1
NA20805.hp1
 intron_variant MODIFIER c.117+10275C>A
c.117+10275C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13019659
chr20:13019687 A
A
 T
T
 233 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(230): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 233 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(230): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp1
NA19004.hp1
NA19004.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+10303A>T
c.117+10303A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13019687
chr20:13019701 T
T
 C
C
 145 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(142): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0011g0082
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0047g0068
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0007g0246
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 145 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(142): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02132.hp2
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02486.hp2
HG02602.hp1
HG02615.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG03017.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03491.hp1
HG03516.hp1
HG03654.hp1
HG03669.hp2
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+10317T>C
c.117+10317T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13019701
chr20:13019704 T
T
 G
G
 145 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(142): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0011g0082
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0047g0068
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0007g0246
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 145 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(142): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02132.hp2
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02486.hp2
HG02602.hp1
HG02615.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG03017.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03491.hp1
HG03516.hp1
HG03654.hp1
HG03669.hp2
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+10320T>G
c.117+10320T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13019704
chr20:13019729 A
A
 G
G
 145 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(142): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0011g0082
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0047g0068
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0007g0246
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 145 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(142): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02132.hp2
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02486.hp2
HG02602.hp1
HG02615.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG03017.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03491.hp1
HG03516.hp1
HG03654.hp1
HG03669.hp2
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+10345A>G
c.117+10345A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13019729
chr20:13019891 T
T
 C
C
 7 a0001c0001t0004g0251
a0001c0001t0007g0252
a0001c0001t0053g0250
others(4): Show 
a0001c0001t0004g0251
a0001c0001t0007g0252
a0001c0001t0053g0250
a0001c0001t0056g0253
a0001c0003t0028g0249
a0002c0002t0004g0254
a0002c0002t0004g0255
 7 HG01358.hp1
HG02056.hp2
HG02135.hp1
others(4): Show 
HG01358.hp1
HG02056.hp2
HG02135.hp1
NA18956.hp1
NA18973.hp2
NA19057.hp2
NA19068.hp1
 intron_variant MODIFIER c.117+10507T>C
c.117+10507T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13019891
chr20:13019899 T
T
 A
A
 7 a0001c0001t0004g0251
a0001c0001t0007g0252
a0001c0001t0053g0250
others(4): Show 
a0001c0001t0004g0251
a0001c0001t0007g0252
a0001c0001t0053g0250
a0001c0001t0056g0253
a0001c0003t0028g0249
a0002c0002t0004g0254
a0002c0002t0004g0255
 7 HG01358.hp1
HG02056.hp2
HG02135.hp1
others(4): Show 
HG01358.hp1
HG02056.hp2
HG02135.hp1
NA18956.hp1
NA18973.hp2
NA19057.hp2
NA19068.hp1
 intron_variant MODIFIER c.117+10515T>A
c.117+10515T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13019899
chr20:13020134 T
T
 C
C
 1 a0001c0004t0009g0170
a0001c0004t0009g0170
 1 HG01106.hp1
HG01106.hp1
 intron_variant MODIFIER c.117+10750T>C
c.117+10750T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13020134
chr20:13020173 G
G
 C
C
 5 a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0014g0074
others(2): Show 
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0046g0071
 5 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(2): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG04228.hp2
NA20805.hp2
 intron_variant MODIFIER c.117+10789G>C
c.117+10789G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13020173
chr20:13020179 G
G
 C
C
 145 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(142): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0011g0082
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0047g0068
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0007g0246
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 145 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(142): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02132.hp2
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02486.hp2
HG02602.hp1
HG02615.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG03017.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03491.hp1
HG03516.hp1
HG03654.hp1
HG03669.hp2
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+10795G>C
c.117+10795G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13020179
chr20:13020347 T
T
 TA
TA
 74 a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
others(71): Show 
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0065g0284
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0010g0231
a0001c0005t0030g0285
a0001c0009t0011g0161
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0062g0280
a0004c0008t0028g0276
a0006c0016t0064g0248
 74 HG00408.hp2
HG00735.hp1
HG00741.hp2
others(71): Show 
HG00408.hp2
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01109.hp2
HG01243.hp1
HG01358.hp1
HG01516.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02486.hp1
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG03041.hp2
HG03195.hp2
HG03209.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18944.hp2
NA18945.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18970.hp2
NA18973.hp2
NA18990.hp2
NA19001.hp1
NA19030.hp1
NA19043.hp1
NA19057.hp2
NA19063.hp2
NA19068.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.117+10975dupA
c.117+10975dupA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13020347
chr20:13020355 A
A
 AAAAAG
AAAAAG
 140 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(137): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0011g0082
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0047g0068
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0007g0246
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 140 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(137): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02486.hp2
HG02602.hp1
HG02615.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG03017.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03491.hp1
HG03516.hp1
HG03654.hp1
HG03669.hp2
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+10976_117+1098
others(9): Show 
c.117+10976_117+10980dupGAAAA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13020355
chr20:13020388 G
G
 A
A
 2 a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0054g0286
a0001c0001t0055g0287
 2 HG02258.hp2
HG04115.hp2
HG02258.hp2
HG04115.hp2
 intron_variant MODIFIER c.117+11004G>A
c.117+11004G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13020388
chr20:13020433 T
T
 A
A
 2 a0001c0005t0005g0069
a0001c0005t0047g0068
a0001c0005t0005g0069
a0001c0005t0047g0068
 2 HG02615.hp2
HG06807.hp1
HG02615.hp2
HG06807.hp1
 intron_variant MODIFIER c.117+11049T>A
c.117+11049T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13020433
chr20:13020469 C
C
 A
A
 145 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(142): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0011g0082
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0047g0068
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0007g0246
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 145 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(142): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02132.hp2
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02486.hp2
HG02602.hp1
HG02615.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG03017.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03491.hp1
HG03516.hp1
HG03654.hp1
HG03669.hp2
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+11085C>A
c.117+11085C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13020469
chr20:13020568 A
A
 G
G
 145 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(142): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0011g0082
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0047g0068
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0007g0246
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 145 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(142): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02132.hp2
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02486.hp2
HG02602.hp1
HG02615.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG03017.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03491.hp1
HG03516.hp1
HG03654.hp1
HG03669.hp2
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+11184A>G
c.117+11184A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13020568
chr20:13020605 T
T
 A
A
 145 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(142): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0011g0082
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0047g0068
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0007g0246
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 145 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(142): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02132.hp2
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02486.hp2
HG02602.hp1
HG02615.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG03017.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03491.hp1
HG03516.hp1
HG03654.hp1
HG03669.hp2
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+11221T>A
c.117+11221T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13020605
chr20:13020644 G
G
 A
A
 75 a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
others(72): Show 
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0065g0284
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0010g0231
a0001c0005t0030g0285
a0001c0009t0011g0161
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0062g0280
a0004c0008t0028g0276
a0006c0016t0064g0248
 75 HG00408.hp2
HG00735.hp1
HG00741.hp2
others(72): Show 
HG00408.hp2
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01109.hp2
HG01243.hp1
HG01358.hp1
HG01516.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02486.hp1
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG03041.hp2
HG03195.hp2
HG03209.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18944.hp2
NA18945.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18970.hp2
NA18973.hp2
NA18990.hp2
NA19001.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp2
NA19068.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.117+11260G>A
c.117+11260G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13020644
chr20:13020662 G
G
 A
A
 1 a0001c0001t0001g0159
a0001c0001t0001g0159
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.117+11278G>A
c.117+11278G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13020662
chr20:13020716 C
C
 A
A
 145 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(142): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0011g0082
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0047g0068
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0007g0246
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 145 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(142): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02132.hp2
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02486.hp2
HG02602.hp1
HG02615.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG03017.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03491.hp1
HG03516.hp1
HG03654.hp1
HG03669.hp2
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+11332C>A
c.117+11332C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13020716
chr20:13020731 T
T
 C
C
 1 a0002c0002t0002g0009
a0002c0002t0002g0009
 1 HG02071.hp2
HG02071.hp2
 intron_variant MODIFIER c.117+11347T>C
c.117+11347T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13020731
chr20:13020771 G
G
 T
T
 3 a0002c0002t0001g0212
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0001g0212
a0002c0002t0026g0213
a0002c0002t0026g0214
 3 HG02895.hp1
HG02897.hp2
HG03130.hp1
HG02895.hp1
HG02897.hp2
HG03130.hp1
 intron_variant MODIFIER c.117+11387G>T
c.117+11387G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13020771
chr20:13020883 T
T
 C
C
 68 a0001c0001t0001g0052
a0001c0001t0002g0003
a0001c0001t0002g0011
others(65): Show 
a0001c0001t0001g0052
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0019g0053
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0032g0022
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0007g0246
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 68 HG00423.hp2
HG00438.hp1
HG00621.hp1
others(65): Show 
HG00423.hp2
HG00438.hp1
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG01168.hp2
HG01258.hp1
HG01261.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02135.hp2
HG02258.hp1
HG02293.hp2
HG02451.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA19004.hp1
NA19010.hp2
NA19011.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19068.hp2
NA19070.hp1
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+11499T>C
c.117+11499T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13020883
chr20:13020910 C
C
 T
T
 2 a0005c0010t0037g0167
a0005c0011t0023g0166
a0005c0010t0037g0167
a0005c0011t0023g0166
 2 HG01884.hp1
HG02451.hp1
HG01884.hp1
HG02451.hp1
 intron_variant MODIFIER c.117+11526C>T
c.117+11526C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13020910
chr20:13020919 G
G
 C
C
 231 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(228): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 231 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(228): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp1
NA19004.hp1
NA19004.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+11535G>C
c.117+11535G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13020919
chr20:13020936 A
A
 G
G
 1 a0002c0002t0002g0008
a0002c0002t0002g0008
 1 HG02080.hp2
HG02080.hp2
 intron_variant MODIFIER c.117+11552A>G
c.117+11552A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13020936
chr20:13020940 A
A
 G
G
 146 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(143): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0011g0082
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0047g0068
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0007g0246
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0005c0011t0023g0166
a0007c0017t0013g0049
a0008c0015t0002g0050
 146 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(143): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02132.hp2
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02602.hp1
HG02615.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG03017.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03491.hp1
HG03516.hp1
HG03654.hp1
HG03669.hp2
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+11556A>G
c.117+11556A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13020940
chr20:13020968 C
C
 T
T
 3 a0001c0001t0045g0163
a0001c0003t0011g0162
a0001c0005t0048g0164
a0001c0001t0045g0163
a0001c0003t0011g0162
a0001c0005t0048g0164
 3 HG02559.hp2
HG03139.hp1
HG03540.hp1
HG02559.hp2
HG03139.hp1
HG03540.hp1
 intron_variant MODIFIER c.117+11584C>T
c.117+11584C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13020968
chr20:13021067 A
A
 G
G
 146 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(143): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0011g0082
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0047g0068
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0007g0246
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0005c0011t0023g0166
a0007c0017t0013g0049
a0008c0015t0002g0050
 146 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(143): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02132.hp2
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02602.hp1
HG02615.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG03017.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03491.hp1
HG03516.hp1
HG03654.hp1
HG03669.hp2
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+11683A>G
c.117+11683A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13021067
chr20:13021464 C
C
 T
T
 1 a0007c0017t0013g0049
a0007c0017t0013g0049
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.117+12080C>T
c.117+12080C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13021464
chr20:13021473 A
A
 G
G
 2 a0001c0004t0065g0284
a0001c0005t0030g0285
a0001c0004t0065g0284
a0001c0005t0030g0285
 2 HG02922.hp2
HG03195.hp2
HG02922.hp2
HG03195.hp2
 intron_variant MODIFIER c.117+12089A>G
c.117+12089A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13021473
chr20:13021543 G
G
 GC
GC
 284 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(281): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 284 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(281): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+12166dupC
c.117+12166dupC
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13021543
chr20:13021562 G
G
 A
A
 84 a0001c0001t0001g0052
a0001c0001t0002g0003
a0001c0001t0002g0011
others(81): Show 
a0001c0001t0001g0052
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0019g0053
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0011g0082
a0001c0003t0032g0022
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0047g0068
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0007g0246
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 84 HG00140.hp1
HG00423.hp2
HG00438.hp1
others(81): Show 
HG00140.hp1
HG00423.hp2
HG00438.hp1
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp2
HG01123.hp2
HG01168.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02135.hp2
HG02155.hp1
HG02258.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02486.hp2
HG02615.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03491.hp1
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA19004.hp1
NA19010.hp2
NA19011.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19068.hp2
NA19070.hp1
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+12178G>A
c.117+12178G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13021562
chr20:13021571 C
C
 T
T
 84 a0001c0001t0001g0052
a0001c0001t0002g0003
a0001c0001t0002g0011
others(81): Show 
a0001c0001t0001g0052
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0019g0053
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0011g0082
a0001c0003t0032g0022
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0047g0068
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0007g0246
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 84 HG00140.hp1
HG00423.hp2
HG00438.hp1
others(81): Show 
HG00140.hp1
HG00423.hp2
HG00438.hp1
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp2
HG01123.hp2
HG01168.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02135.hp2
HG02155.hp1
HG02258.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02486.hp2
HG02615.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03491.hp1
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA19004.hp1
NA19010.hp2
NA19011.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19068.hp2
NA19070.hp1
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+12187C>T
c.117+12187C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13021571
chr20:13021602 T
T
 C
C
 10 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
others(7): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0005t0009g0151
 10 HG01106.hp2
HG02723.hp2
HG02809.hp1
others(7): Show 
HG01106.hp2
HG02723.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03195.hp1
HG03471.hp2
HG03516.hp2
NA19030.hp2
 intron_variant MODIFIER c.117+12218T>C
c.117+12218T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13021602
chr20:13021617 G
G
 A
A
 4 a0001c0001t0012g0259
a0001c0001t0015g0256
a0001c0003t0012g0258
others(1): Show 
a0001c0001t0012g0259
a0001c0001t0015g0256
a0001c0003t0012g0258
a0001c0003t0058g0257
 4 HG01243.hp1
HG02280.hp1
HG03540.hp2
others(1): Show 
HG01243.hp1
HG02280.hp1
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.117+12233G>A
c.117+12233G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13021617
chr20:13022035 G
G
 A
A
 83 a0001c0001t0001g0052
a0001c0001t0002g0003
a0001c0001t0002g0011
others(80): Show 
a0001c0001t0001g0052
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0019g0053
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0003t0006g0040
a0001c0003t0011g0082
a0001c0003t0032g0022
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0047g0068
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0007g0246
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 83 HG00140.hp1
HG00423.hp2
HG00438.hp1
others(80): Show 
HG00140.hp1
HG00423.hp2
HG00438.hp1
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp2
HG01123.hp2
HG01168.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02135.hp2
HG02155.hp1
HG02258.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02486.hp2
HG02615.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03491.hp1
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA19004.hp1
NA19010.hp2
NA19011.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19068.hp2
NA19070.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+12651G>A
c.117+12651G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13022035
chr20:13022235 G
G
 A
A
 1 a0001c0001t0010g0215
a0001c0001t0010g0215
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.117+12851G>A
c.117+12851G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13022235
chr20:13022423 C
C
 T
T
 85 a0001c0001t0001g0052
a0001c0001t0002g0003
a0001c0001t0002g0011
others(82): Show 
a0001c0001t0001g0052
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0019g0053
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0003t0006g0040
a0001c0003t0011g0082
a0001c0003t0032g0022
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0007g0246
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0006g0033
a0005c0011t0023g0166
a0007c0017t0013g0049
a0008c0015t0002g0050
 85 HG00140.hp1
HG00423.hp2
HG00438.hp1
others(82): Show 
HG00140.hp1
HG00423.hp2
HG00438.hp1
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp2
HG01123.hp2
HG01168.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02135.hp2
HG02155.hp1
HG02258.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02615.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03491.hp1
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA19004.hp1
NA19010.hp2
NA19011.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19068.hp2
NA19070.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+13039C>T
c.117+13039C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13022423
chr20:13022466 G
G
 A
A
 2 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0149
a0001c0001t0001g0150
 2 HG02965.hp1
HG03516.hp2
HG02965.hp1
HG03516.hp2
 intron_variant MODIFIER c.117+13082G>A
c.117+13082G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13022466
chr20:13022607 A
A
 G
G
 71 a0001c0001t0001g0052
a0001c0001t0002g0003
a0001c0001t0002g0011
others(68): Show 
a0001c0001t0001g0052
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0019g0053
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0003t0006g0040
a0001c0003t0032g0022
a0001c0005t0005g0069
a0001c0005t0047g0068
a0001c0012t0023g0165
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0007g0246
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0006g0033
a0005c0011t0023g0166
a0007c0017t0013g0049
a0008c0015t0002g0050
 71 HG00423.hp2
HG00438.hp1
HG00621.hp1
others(68): Show 
HG00423.hp2
HG00438.hp1
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG01168.hp2
HG01258.hp1
HG01261.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02135.hp2
HG02258.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02615.hp2
HG02895.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA19004.hp1
NA19010.hp2
NA19011.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19068.hp2
NA19070.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+13223A>G
c.117+13223A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13022607
chr20:13022990 T
T
 C
C
 75 a0001c0001t0001g0052
a0001c0001t0002g0003
a0001c0001t0002g0011
others(72): Show 
a0001c0001t0001g0052
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0019g0053
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0045g0163
a0001c0003t0005g0172
a0001c0003t0006g0040
a0001c0003t0011g0162
a0001c0003t0032g0022
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 75 HG00423.hp2
HG00438.hp1
HG00621.hp1
others(72): Show 
HG00423.hp2
HG00438.hp1
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG01168.hp2
HG01258.hp1
HG01261.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02135.hp2
HG02258.hp1
HG02293.hp2
HG02451.hp2
HG02559.hp2
HG02895.hp1
HG02897.hp2
HG03130.hp1
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03540.hp1
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18944.hp1
NA18946.hp1
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA19004.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19068.hp2
NA19070.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+13606T>C
c.117+13606T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13022990
chr20:13023032 G
G
 A
A
 1 a0002c0002t0001g0212
a0002c0002t0001g0212
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.117+13648G>A
c.117+13648G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13023032
chr20:13023244 T
T
 C
C
 1 a0001c0001t0018g0090
a0001c0001t0018g0090
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.117+13860T>C
c.117+13860T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13023244
chr20:13023265 G
G
 GCA
GCA
 7 a0001c0001t0004g0288
a0001c0001t0015g0264
a0001c0001t0015g0265
others(4): Show 
a0001c0001t0004g0288
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0027g0263
a0001c0001t0030g0261
a0001c0003t0012g0262
a0001c0004t0016g0091
 7 HG00639.hp1
HG01109.hp2
HG02109.hp1
others(4): Show 
HG00639.hp1
HG01109.hp2
HG02109.hp1
HG02145.hp2
HG02630.hp2
HG02965.hp2
HG03471.hp1
 intron_variant MODIFIER c.117+13902_117+1390
others(6): Show 
c.117+13902_117+13903dupCA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13023265
chr20:13023265 GCA
GCA
 G
G
 27 a0001c0001t0001g0159
a0001c0001t0001g0203
a0001c0001t0001g0292
others(24): Show 
a0001c0001t0001g0159
a0001c0001t0001g0203
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0019g0160
a0001c0001t0044g0073
a0001c0001t0046g0071
a0001c0003t0011g0082
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0052g0087
a0002c0006t0005g0086
a0005c0010t0037g0167
a0005c0011t0023g0166
 27 HG00140.hp1
HG00735.hp2
HG00741.hp1
others(24): Show 
HG00140.hp1
HG00735.hp2
HG00741.hp1
HG01123.hp2
HG01167.hp2
HG01243.hp2
HG01258.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01978.hp2
HG02155.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03491.hp1
HG06807.hp1
HG06807.hp2
NA18967.hp1
NA19000.hp1
NA20805.hp2
 intron_variant MODIFIER c.117+13902_117+1390
others(6): Show 
c.117+13902_117+13903delCA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13023265
chr20:13023265 GCACA
GCACA
 G
G
 71 a0001c0001t0001g0052
a0001c0001t0002g0003
a0001c0001t0002g0015
others(68): Show 
a0001c0001t0001g0052
a0001c0001t0002g0003
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0013g0060
a0001c0001t0019g0053
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0045g0163
a0001c0003t0005g0172
a0001c0003t0006g0040
a0001c0003t0011g0162
a0001c0003t0032g0022
a0001c0005t0047g0068
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0007g0246
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 71 HG00423.hp2
HG00621.hp1
HG00642.hp2
others(68): Show 
HG00423.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG01168.hp2
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02135.hp2
HG02258.hp1
HG02293.hp2
HG02451.hp2
HG02559.hp2
HG02615.hp2
HG02895.hp1
HG02897.hp2
HG03130.hp1
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03540.hp1
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18944.hp1
NA18946.hp1
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA19004.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19068.hp2
NA19070.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+13900_117+1390
others(8): Show 
c.117+13900_117+13903delCACA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13023265
chr20:13023386 C
C
 G
G
 2 a0001c0005t0001g0089
a0001c0005t0025g0088
a0001c0005t0001g0089
a0001c0005t0025g0088
 2 HG02738.hp2
HG03491.hp1
HG02738.hp2
HG03491.hp1
 intron_variant MODIFIER c.117+14002C>G
c.117+14002C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13023386
chr20:13023401 C
C
 A
A
 1 a0002c0002t0008g0012
a0002c0002t0008g0012
 1 NA19091.hp1
NA19091.hp1
 intron_variant MODIFIER c.117+14017C>A
c.117+14017C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13023401
chr20:13023434 G
G
 C
C
 1 a0001c0012t0023g0165
a0001c0012t0023g0165
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.117+14050G>C
c.117+14050G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13023434
chr20:13023501 C
C
 T
T
 6 a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
others(3): Show 
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0009t0011g0161
 6 HG01884.hp2
HG02055.hp1
HG02109.hp2
others(3): Show 
HG01884.hp2
HG02055.hp1
HG02109.hp2
HG02622.hp2
NA18522.hp1
NA20805.hp1
 intron_variant MODIFIER c.117+14117C>T
c.117+14117C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13023501
chr20:13023725 A
A
 G
G
 258 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(255): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0229
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0162
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 258 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(255): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02738.hp1
HG02738.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+14341A>G
c.117+14341A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13023725
chr20:13023745 T
T
 C
C
 1 a0001c0001t0004g0266
a0001c0001t0004g0266
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.117+14361T>C
c.117+14361T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13023745
chr20:13023785 A
A
 G
G
 4 a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
others(1): Show 
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0046g0071
 4 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(1): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
NA20805.hp2
 intron_variant MODIFIER c.117+14401A>G
c.117+14401A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13023785
chr20:13023956 A
A
 T
T
 99 a0001c0001t0001g0052
a0001c0001t0002g0003
a0001c0001t0002g0015
others(96): Show 
a0001c0001t0001g0052
a0001c0001t0002g0003
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0008g0005
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0019g0053
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0003t0005g0172
a0001c0003t0006g0040
a0001c0003t0011g0082
a0001c0003t0011g0162
a0001c0003t0032g0022
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 99 HG00140.hp1
HG00423.hp2
HG00621.hp1
others(96): Show 
HG00140.hp1
HG00423.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG01123.hp2
HG01168.hp2
HG01243.hp2
HG01258.hp2
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02109.hp2
HG02135.hp2
HG02155.hp1
HG02258.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03491.hp1
HG03540.hp1
HG03669.hp2
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18977.hp1
NA18981.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA19004.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19068.hp2
NA19070.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+14572A>T
c.117+14572A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13023956
chr20:13024000 G
G
 T
T
 1 a0001c0004t0065g0284
a0001c0004t0065g0284
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.117+14616G>T
c.117+14616G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13024000
chr20:13024094 C
C
 G
G
 1 a0002c0002t0002g0051
a0002c0002t0002g0051
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.117+14710C>G
c.117+14710C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13024094
chr20:13024135 C
C
 G
G
 4 a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
others(1): Show 
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0046g0071
 4 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(1): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
NA20805.hp2
 intron_variant MODIFIER c.117+14751C>G
c.117+14751C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13024135
chr20:13024141 C
C
 T
T
 5 a0001c0001t0004g0251
a0001c0001t0007g0252
a0001c0001t0056g0253
others(2): Show 
a0001c0001t0004g0251
a0001c0001t0007g0252
a0001c0001t0056g0253
a0002c0002t0004g0254
a0002c0002t0004g0255
 5 HG02056.hp2
HG02135.hp1
NA18956.hp1
others(2): Show 
HG02056.hp2
HG02135.hp1
NA18956.hp1
NA18973.hp2
NA19057.hp2
 intron_variant MODIFIER c.117+14757C>T
c.117+14757C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13024141
chr20:13024379 TAC
TAC
 T
T
 46 a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
others(43): Show 
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0038g0189
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0009t0005g0186
a0001c0009t0005g0204
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
 46 HG00280.hp2
HG00423.hp1
HG00438.hp1
others(43): Show 
HG00280.hp2
HG00423.hp1
HG00438.hp1
HG00738.hp1
HG01106.hp1
HG01192.hp2
HG01255.hp2
HG01258.hp1
HG01346.hp2
HG01433.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02132.hp1
HG02155.hp1
HG03017.hp1
HG03225.hp2
HG03491.hp2
HG04199.hp1
NA18747.hp2
NA18943.hp2
NA18948.hp1
NA18949.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18981.hp1
NA18982.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA19001.hp2
NA19010.hp1
NA19012.hp1
NA19060.hp2
NA19062.hp2
NA19066.hp2
NA19070.hp2
NA19074.hp1
NA19089.hp2
NA19240.hp1
 intron_variant MODIFIER c.117+14996_117+1499
others(6): Show 
c.117+14996_117+14997delAC
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13024379
chr20:13024409 A
A
 G
G
 1 a0001c0012t0023g0165
a0001c0012t0023g0165
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.117+15025A>G
c.117+15025A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13024409
chr20:13024421 A
A
 T
T
 97 a0001c0001t0001g0052
a0001c0001t0002g0003
a0001c0001t0002g0015
others(94): Show 
a0001c0001t0001g0052
a0001c0001t0002g0003
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0008g0005
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0019g0053
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0003t0005g0172
a0001c0003t0006g0040
a0001c0003t0011g0082
a0001c0003t0011g0162
a0001c0003t0032g0022
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 97 HG00140.hp1
HG00423.hp2
HG00621.hp1
others(94): Show 
HG00140.hp1
HG00423.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG01123.hp2
HG01168.hp2
HG01243.hp2
HG01258.hp2
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03491.hp1
HG03540.hp1
HG03669.hp2
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18977.hp1
NA18981.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA19004.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19068.hp2
NA19070.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+15037A>T
c.117+15037A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13024421
chr20:13024442 C
C
 T
T
 1 a0005c0010t0037g0167
a0005c0010t0037g0167
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.117+15058C>T
c.117+15058C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13024442
chr20:13024542 T
T
 A
A
 2 a0001c0001t0045g0163
a0001c0003t0011g0162
a0001c0001t0045g0163
a0001c0003t0011g0162
 2 HG02559.hp2
HG03540.hp1
HG02559.hp2
HG03540.hp1
 intron_variant MODIFIER c.117+15158T>A
c.117+15158T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13024542
chr20:13025346 C
C
 A
A
 1 a0001c0001t0054g0286
a0001c0001t0054g0286
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.117+15962C>A
c.117+15962C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13025346
chr20:13025492 G
G
 A
A
 5 a0001c0001t0001g0292
a0001c0001t0045g0163
a0001c0003t0011g0162
others(2): Show 
a0001c0001t0001g0292
a0001c0001t0045g0163
a0001c0003t0011g0162
a0005c0010t0037g0167
a0005c0011t0023g0166
 5 HG01884.hp1
HG02451.hp1
HG02559.hp2
others(2): Show 
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG03139.hp2
HG03540.hp1
 intron_variant MODIFIER c.117+16108G>A
c.117+16108G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13025492
chr20:13025559 C
C
 T
T
 3 a0001c0005t0003g0085
a0001c0005t0018g0084
a0001c0014t0005g0083
a0001c0005t0003g0085
a0001c0005t0018g0084
a0001c0014t0005g0083
 3 HG00140.hp1
HG01123.hp2
HG01258.hp2
HG00140.hp1
HG01123.hp2
HG01258.hp2
 intron_variant MODIFIER c.117+16175C>T
c.117+16175C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13025559
chr20:13025659 C
C
 T
T
 1 a0001c0001t0016g0136
a0001c0001t0016g0136
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.117+16275C>T
c.117+16275C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13025659
chr20:13025740 C
C
 T
T
 270 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(267): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0229
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 270 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(267): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+16356C>T
c.117+16356C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13025740
chr20:13025765 A
A
 G
G
 3 a0001c0001t0001g0292
a0005c0010t0037g0167
a0005c0011t0023g0166
a0001c0001t0001g0292
a0005c0010t0037g0167
a0005c0011t0023g0166
 3 HG01884.hp1
HG02451.hp1
HG03139.hp2
HG01884.hp1
HG02451.hp1
HG03139.hp2
 intron_variant MODIFIER c.117+16381A>G
c.117+16381A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13025765
chr20:13025939 G
G
 A
A
 1 a0001c0001t0007g0239
a0001c0001t0007g0239
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.117+16555G>A
c.117+16555G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13025939
chr20:13025941 T
T
 C
C
 5 a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0174
others(2): Show 
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0024g0178
 5 NA18957.hp1
NA18982.hp1
NA18986.hp2
others(2): Show 
NA18957.hp1
NA18982.hp1
NA18986.hp2
NA19070.hp2
NA19074.hp1
 intron_variant MODIFIER c.117+16557T>C
c.117+16557T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13025941
chr20:13026261 G
G
 A
A
 5 a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
others(2): Show 
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0046g0071
a0001c0012t0023g0165
 5 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(2): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG02895.hp2
NA20805.hp2
 intron_variant MODIFIER c.117+16877G>A
c.117+16877G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13026261
chr20:13026432 G
G
 A
A
 1 a0001c0001t0005g0092
a0001c0001t0005g0092
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.117+17048G>A
c.117+17048G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13026432
chr20:13026439 T
T
 A
A
 2 a0001c0001t0001g0159
a0001c0001t0019g0160
a0001c0001t0001g0159
a0001c0001t0019g0160
 2 HG01167.hp2
HG06807.hp2
HG01167.hp2
HG06807.hp2
 intron_variant MODIFIER c.117+17055T>A
c.117+17055T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13026439
chr20:13026543 G
G
 A
A
 1 a0001c0003t0010g0289
a0001c0003t0010g0289
 1 NA18959.hp1
NA18959.hp1
 intron_variant MODIFIER c.117+17159G>A
c.117+17159G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13026543
chr20:13026600 G
G
 A
A
 15 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
others(12): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0003g0157
a0001c0001t0045g0163
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0009g0151
a0005c0010t0037g0167
a0005c0011t0023g0166
 15 HG01106.hp2
HG01884.hp1
HG02451.hp1
others(12): Show 
HG01106.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02723.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03471.hp2
HG03516.hp2
HG03540.hp1
NA19030.hp2
 intron_variant MODIFIER c.117+17216G>A
c.117+17216G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13026600
chr20:13026610 G
G
 A
A
 15 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
others(12): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0003g0157
a0001c0001t0007g0216
a0001c0001t0045g0163
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0009g0151
a0005c0010t0037g0167
 15 HG01106.hp2
HG01884.hp1
HG02559.hp2
others(12): Show 
HG01106.hp2
HG01884.hp1
HG02559.hp2
HG02723.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
NA19030.hp2
 intron_variant MODIFIER c.117+17226G>A
c.117+17226G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13026610
chr20:13026644 T
T
 C
C
 1 a0001c0001t0002g0067
a0001c0001t0002g0067
 1 NA19077.hp2
NA19077.hp2
 intron_variant MODIFIER c.117+17260T>C
c.117+17260T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13026644
chr20:13026810 G
G
 T
T
 1 a0001c0001t0001g0159
a0001c0001t0001g0159
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.117+17426G>T
c.117+17426G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13026810
chr20:13026829 T
T
 A
A
 15 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
others(12): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0003g0157
a0001c0001t0045g0163
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0009g0151
a0005c0010t0037g0167
a0005c0011t0023g0166
 15 HG01106.hp2
HG01884.hp1
HG02451.hp1
others(12): Show 
HG01106.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02723.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03471.hp2
HG03516.hp2
HG03540.hp1
NA19030.hp2
 intron_variant MODIFIER c.117+17445T>A
c.117+17445T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13026829
chr20:13026862 C
C
 T
T
 20 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
others(17): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0003g0157
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0009g0151
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 20 HG00741.hp1
HG01106.hp2
HG01243.hp2
others(17): Show 
HG00741.hp1
HG01106.hp2
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03471.hp2
HG03516.hp2
HG03540.hp1
NA19030.hp2
NA20805.hp2
 intron_variant MODIFIER c.117+17478C>T
c.117+17478C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13026862
chr20:13026895 C
C
 T
T
 4 a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
others(1): Show 
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0046g0071
 4 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(1): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
NA20805.hp2
 intron_variant MODIFIER c.117+17511C>T
c.117+17511C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13026895
chr20:13026912 C
C
 G
G
 46 a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
others(43): Show 
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0038g0189
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0009t0005g0186
a0001c0009t0005g0204
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
 46 HG00280.hp2
HG00423.hp1
HG00438.hp1
others(43): Show 
HG00280.hp2
HG00423.hp1
HG00438.hp1
HG00738.hp1
HG01106.hp1
HG01192.hp2
HG01255.hp2
HG01258.hp1
HG01346.hp2
HG01433.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02132.hp1
HG02155.hp1
HG03017.hp1
HG03225.hp2
HG03491.hp2
HG04199.hp1
NA18747.hp2
NA18943.hp2
NA18948.hp1
NA18949.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18981.hp1
NA18982.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA19001.hp2
NA19010.hp1
NA19012.hp1
NA19060.hp2
NA19062.hp2
NA19066.hp2
NA19070.hp2
NA19074.hp1
NA19089.hp2
NA19240.hp1
 intron_variant MODIFIER c.117+17528C>G
c.117+17528C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13026912
chr20:13027012 T
T
 G
G
 6 a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
others(3): Show 
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0011t0023g0166
 6 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(3): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG02451.hp1
HG02895.hp2
NA20805.hp2
 intron_variant MODIFIER c.117+17628T>G
c.117+17628T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13027012
chr20:13027029 G
G
 C
C
 20 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
others(17): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0003g0157
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0009g0151
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 20 HG00741.hp1
HG01106.hp2
HG01243.hp2
others(17): Show 
HG00741.hp1
HG01106.hp2
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03471.hp2
HG03516.hp2
HG03540.hp1
NA19030.hp2
NA20805.hp2
 intron_variant MODIFIER c.117+17645G>C
c.117+17645G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13027029
chr20:13027080 C
C
 T
T
 2 a0001c0001t0001g0052
a0001c0001t0019g0053
a0001c0001t0001g0052
a0001c0001t0019g0053
 2 HG03209.hp1
HG03225.hp1
HG03209.hp1
HG03225.hp1
 intron_variant MODIFIER c.117+17696C>T
c.117+17696C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13027080
chr20:13027099 C
C
 T
T
 5 a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
others(2): Show 
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0046g0071
a0001c0012t0023g0165
 5 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(2): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG02895.hp2
NA20805.hp2
 intron_variant MODIFIER c.117+17715C>T
c.117+17715C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13027099
chr20:13027115 A
A
 C
C
 20 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
others(17): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0003g0157
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0009g0151
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 20 HG00741.hp1
HG01106.hp2
HG01243.hp2
others(17): Show 
HG00741.hp1
HG01106.hp2
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03471.hp2
HG03516.hp2
HG03540.hp1
NA19030.hp2
NA20805.hp2
 intron_variant MODIFIER c.117+17731A>C
c.117+17731A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13027115
chr20:13027165 G
G
 A
A
 5 a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
others(2): Show 
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0046g0071
a0001c0012t0023g0165
 5 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(2): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG02895.hp2
NA20805.hp2
 intron_variant MODIFIER c.117+17781G>A
c.117+17781G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13027165
chr20:13027300 C
C
 T
T
 11 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
others(8): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0009g0151
 11 HG01106.hp2
HG02723.hp2
HG02809.hp1
others(8): Show 
HG01106.hp2
HG02723.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03195.hp1
HG03471.hp2
HG03516.hp2
HG03540.hp1
NA19030.hp2
 intron_variant MODIFIER c.117+17916C>T
c.117+17916C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13027300
chr20:13027457 T
T
 A
A
 1 a0001c0004t0065g0284
a0001c0004t0065g0284
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.117+18073T>A
c.117+18073T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13027457
chr20:13027470 CCAGACA
CCAGACA
 C
C
 9 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.117+18094_117+1809
others(10): Show 
c.117+18094_117+18099delAGACAC
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13027470
chr20:13027483 C
C
 A
A
 2 a0001c0003t0012g0245
a0001c0005t0004g0244
a0001c0003t0012g0245
a0001c0005t0004g0244
 2 HG03041.hp1
NA19240.hp2
HG03041.hp1
NA19240.hp2
 intron_variant MODIFIER c.117+18099C>A
c.117+18099C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13027483
chr20:13027486 C
C
 T
T
 2 a0001c0003t0010g0282
a0001c0003t0029g0283
a0001c0003t0010g0282
a0001c0003t0029g0283
 2 HG03669.hp1
HG03831.hp2
HG03669.hp1
HG03831.hp2
 intron_variant MODIFIER c.117+18102C>T
c.117+18102C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13027486
chr20:13027578 C
C
 T
T
 1 a0001c0001t0045g0163
a0001c0001t0045g0163
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.117+18194C>T
c.117+18194C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13027578
chr20:13027598 A
A
 G
G
 1 a0001c0005t0030g0285
a0001c0005t0030g0285
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.117+18214A>G
c.117+18214A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13027598
chr20:13027629 C
C
 T
T
 9 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.117+18245C>T
c.117+18245C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13027629
chr20:13027637 GCA
GCA
 G
G
 12 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
others(9): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0009g0151
a0001c0005t0047g0068
 12 HG01106.hp2
HG02615.hp2
HG02723.hp2
others(9): Show 
HG01106.hp2
HG02615.hp2
HG02723.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03195.hp1
HG03471.hp2
HG03516.hp2
HG03540.hp1
NA19030.hp2
 intron_variant MODIFIER c.117+18255_117+1825
others(6): Show 
c.117+18255_117+18256delAC
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13027637
chr20:13027637 GCACGCA
GCACGCA
 G
G
 3 a0001c0001t0045g0163
a0005c0010t0037g0167
a0005c0011t0023g0166
a0001c0001t0045g0163
a0005c0010t0037g0167
a0005c0011t0023g0166
 3 HG01884.hp1
HG02451.hp1
HG02559.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
 intron_variant MODIFIER c.117+18257_117+1826
others(10): Show 
c.117+18257_117+18262delGCACAC
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13027637
chr20:13027637 GCACGCAC
others(3): Show 
GCACGCACACA
 G
G
 5 a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
others(2): Show 
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0046g0071
a0001c0012t0023g0165
 5 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(2): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG02895.hp2
NA20805.hp2
 intron_variant MODIFIER c.117+18257_117+1826
others(14): Show 
c.117+18257_117+18266delGCACACACAC
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13027637
chr20:13027639 A
A
 G
G
 22 a0001c0001t0001g0052
a0001c0001t0004g0238
a0001c0001t0007g0237
others(19): Show 
a0001c0001t0001g0052
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0019g0053
a0001c0003t0011g0082
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
 22 HG00140.hp1
HG00735.hp2
HG01123.hp2
others(19): Show 
HG00140.hp1
HG00735.hp2
HG01123.hp2
HG01258.hp2
HG01884.hp2
HG01891.hp1
HG01978.hp2
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02486.hp2
HG02622.hp2
HG02647.hp1
HG02738.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03491.hp1
HG06807.hp1
NA18522.hp1
NA20805.hp1
 intron_variant MODIFIER c.117+18255A>G
c.117+18255A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13027639
chr20:13027641 G
G
 GCA
GCA
 6 a0001c0001t0001g0093
a0001c0001t0015g0256
a0001c0001t0030g0261
others(3): Show 
a0001c0001t0001g0093
a0001c0001t0015g0256
a0001c0001t0030g0261
a0001c0003t0012g0217
a0001c0003t0012g0262
a0002c0002t0002g0014
 6 HG00621.hp2
HG01109.hp2
HG01243.hp1
others(3): Show 
HG00621.hp2
HG01109.hp2
HG01243.hp1
HG02109.hp1
HG03209.hp2
NA18977.hp1
 intron_variant MODIFIER c.117+18295_117+1829
others(6): Show 
c.117+18295_117+18296dupAC
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13027641
chr20:13027641 GCA
GCA
 G
G
 22 a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
others(19): Show 
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0145
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0242
a0001c0001t0004g0251
a0001c0001t0004g0291
a0001c0001t0007g0228
a0001c0001t0007g0252
a0001c0001t0008g0013
a0001c0001t0027g0268
a0001c0001t0050g0101
a0001c0001t0063g0232
a0001c0003t0028g0249
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0005t0025g0097
a0002c0002t0001g0102
 22 HG00408.hp1
HG01109.hp1
HG01516.hp2
others(19): Show 
HG00408.hp1
HG01109.hp1
HG01516.hp2
HG01891.hp2
HG02015.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp1
HG02155.hp2
HG02647.hp2
HG02922.hp1
HG03041.hp2
HG03239.hp2
HG03516.hp1
NA18964.hp2
NA18968.hp1
NA18973.hp2
NA18977.hp2
NA19001.hp1
NA19043.hp2
NA19068.hp1
NA20129.hp1
 intron_variant MODIFIER c.117+18295_117+1829
others(6): Show 
c.117+18295_117+18296delAC
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13027641
chr20:13027641 GCACA
GCACA
 G
G
 84 a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
others(81): Show 
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0173
a0001c0001t0001g0203
a0001c0001t0002g0015
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0039g0121
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0004t0017g0105
a0001c0005t0004g0244
a0001c0005t0010g0231
a0002c0002t0002g0019
a0002c0002t0004g0254
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0016g0114
a0002c0002t0062g0280
a0002c0006t0006g0016
a0002c0018t0002g0054
a0003c0007t0006g0010
a0003c0007t0006g0020
a0004c0008t0005g0140
a0004c0008t0028g0276
 84 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(81): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00609.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01952.hp2
HG01975.hp2
HG02015.hp2
HG02257.hp2
HG02258.hp2
HG02293.hp1
HG02602.hp1
HG02622.hp1
HG02723.hp1
HG02738.hp1
HG03017.hp2
HG03041.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
NA18943.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18951.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18967.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18986.hp1
NA18990.hp2
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19011.hp1
NA19057.hp2
NA19060.hp1
NA19063.hp2
NA19066.hp1
NA19074.hp2
NA19086.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.117+18293_117+1829
others(8): Show 
c.117+18293_117+18296delACAC
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13027641
chr20:13027641 GCACACA
GCACACA
 G
G
 67 a0001c0001t0001g0134
a0001c0001t0002g0003
a0001c0001t0002g0021
others(64): Show 
a0001c0001t0001g0134
a0001c0001t0002g0003
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0179
a0001c0001t0008g0005
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0012g0259
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0059g0290
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0032g0022
a0001c0003t0058g0257
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0008g0006
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0006g0033
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 67 HG00621.hp1
HG00642.hp2
HG00673.hp1
others(64): Show 
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG01168.hp2
HG01261.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02135.hp2
HG02258.hp1
HG02280.hp1
HG02293.hp2
HG02451.hp2
HG02602.hp2
HG02895.hp1
HG02897.hp2
HG03130.hp1
HG03239.hp1
HG03540.hp2
HG03669.hp2
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18944.hp1
NA18946.hp1
NA18948.hp2
NA18949.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18968.hp2
NA18970.hp1
NA18981.hp2
NA18982.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA19004.hp1
NA19004.hp2
NA19010.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19068.hp2
NA19070.hp1
NA19077.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp1
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+18291_117+1829
others(10): Show 
c.117+18291_117+18296delACACAC
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13027641
chr20:13027641 GCACACAC
others(1): Show 
GCACACACA
 G
G
 45 a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
others(42): Show 
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0210
a0001c0001t0002g0011
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0038g0189
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0003t0010g0236
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0009t0005g0186
a0001c0009t0005g0204
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
 45 HG00280.hp2
HG00423.hp1
HG00438.hp1
others(42): Show 
HG00280.hp2
HG00423.hp1
HG00438.hp1
HG00738.hp1
HG01106.hp1
HG01192.hp2
HG01255.hp2
HG01258.hp1
HG01346.hp2
HG01433.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02132.hp1
HG02155.hp1
HG03017.hp1
HG03225.hp2
HG03491.hp2
HG04199.hp1
NA18943.hp2
NA18948.hp1
NA18949.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18981.hp1
NA18982.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA19001.hp2
NA19010.hp1
NA19012.hp1
NA19060.hp2
NA19062.hp2
NA19066.hp2
NA19070.hp2
NA19074.hp1
NA19089.hp2
NA21309.hp2
 intron_variant MODIFIER c.117+18289_117+1829
others(12): Show 
c.117+18289_117+18296delACACACAC
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13027641
chr20:13027641 GCACACAC
others(3): Show 
GCACACACACA
 G
G
 16 a0001c0001t0001g0159
a0001c0001t0001g0211
a0001c0001t0004g0238
others(13): Show 
a0001c0001t0001g0159
a0001c0001t0001g0211
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0019g0160
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0009g0079
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0009t0011g0161
a0001c0014t0005g0083
 16 HG00140.hp1
HG00735.hp2
HG01123.hp2
others(13): Show 
HG00140.hp1
HG00735.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01884.hp2
HG01978.hp2
HG02055.hp1
HG02109.hp2
HG02622.hp2
HG02738.hp2
HG03491.hp1
HG06807.hp2
NA18522.hp1
NA19240.hp1
NA20805.hp1
 intron_variant MODIFIER c.117+18287_117+1829
others(14): Show 
c.117+18287_117+18296delACACACACAC
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13027641
chr20:13027641 GCACACAC
others(5): Show 
GCACACACACACA
 G
G
 8 a0001c0001t0003g0135
a0001c0003t0011g0082
a0001c0005t0001g0080
others(5): Show 
a0001c0001t0003g0135
a0001c0003t0011g0082
a0001c0005t0001g0080
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0016g0147
a0001c0005t0030g0285
a0001c0005t0048g0164
 8 HG00609.hp2
HG01891.hp1
HG02280.hp2
others(5): Show 
HG00609.hp2
HG01891.hp1
HG02280.hp2
HG02486.hp2
HG02647.hp1
HG03139.hp1
HG03195.hp2
HG06807.hp1
 intron_variant MODIFIER c.117+18285_117+1829
others(16): Show 
c.117+18285_117+18296delACACACACACAC
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13027641
chr20:13027643 A
A
 G
G
 1 a0001c0005t0047g0068
a0001c0005t0047g0068
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.117+18259A>G
c.117+18259A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13027643
chr20:13027667 ACACACAC
others(7): Show 
ACACACACACACACG
 A
A
 1 a0001c0004t0065g0284
a0001c0004t0065g0284
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.117+18286_117+1829
others(18): Show 
c.117+18286_117+18299delCACACACACACGCA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13027667
chr20:13027669 A
A
 G
G
 9 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.117+18285A>G
c.117+18285A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13027669
chr20:13027673 A
A
 G
G
 9 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.117+18289A>G
c.117+18289A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13027673
chr20:13027677 A
A
 G
G
 9 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.117+18293A>G
c.117+18293A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13027677
chr20:13027690 T
T
 C
C
 9 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.117+18306T>C
c.117+18306T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13027690
chr20:13027763 G
G
 A
A
 3 a0001c0005t0001g0080
a0001c0005t0005g0081
a0001c0005t0030g0285
a0001c0005t0001g0080
a0001c0005t0005g0081
a0001c0005t0030g0285
 3 HG01891.hp1
HG02647.hp1
HG03195.hp2
HG01891.hp1
HG02647.hp1
HG03195.hp2
 intron_variant MODIFIER c.117+18379G>A
c.117+18379G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13027763
chr20:13027848 G
G
 C
C
 9 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.117+18464G>C
c.117+18464G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13027848
chr20:13027850 T
T
 C
C
 9 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.117+18466T>C
c.117+18466T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13027850
chr20:13027907 CTA
CTA
 C
C
 3 a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
 3 HG02809.hp1
HG02896.hp2
HG03130.hp2
HG02809.hp1
HG02896.hp2
HG03130.hp2
 intron_variant MODIFIER c.117+18525_117+1852
others(6): Show 
c.117+18525_117+18526delAT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13027907
chr20:13028089 G
G
 A
A
 9 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.117+18705G>A
c.117+18705G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13028089
chr20:13028138 C
C
 A
A
 3 a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0003t0010g0289
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0003t0010g0289
 3 HG00408.hp2
NA18959.hp1
NA18970.hp2
HG00408.hp2
NA18959.hp1
NA18970.hp2
 intron_variant MODIFIER c.117+18754C>A
c.117+18754C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13028138
chr20:13028144 T
T
 C
C
 9 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.117+18760T>C
c.117+18760T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13028144
chr20:13028169 C
C
 T
T
 26 a0001c0001t0001g0173
a0001c0001t0001g0203
a0001c0001t0004g0242
others(23): Show 
a0001c0001t0001g0173
a0001c0001t0001g0203
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0029g0275
a0001c0003t0029g0283
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0062g0280
a0004c0008t0028g0276
a0006c0016t0064g0248
 26 HG00408.hp2
HG00609.hp1
HG00741.hp2
others(23): Show 
HG00408.hp2
HG00609.hp1
HG00741.hp2
HG01516.hp1
HG01952.hp2
HG02015.hp2
HG02056.hp2
HG02135.hp1
HG02293.hp1
HG02602.hp2
HG02738.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp2
NA18944.hp2
NA18945.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18970.hp2
NA18973.hp2
NA18990.hp2
NA19000.hp1
NA19001.hp1
NA19057.hp2
NA19063.hp2
 intron_variant MODIFIER c.117+18785C>T
c.117+18785C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13028169
chr20:13028183 A
A
 G
G
 9 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.117+18799A>G
c.117+18799A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13028183
chr20:13028268 C
C
 A
A
 1 a0001c0001t0002g0011
a0001c0001t0002g0011
 1 HG00438.hp1
HG00438.hp1
 intron_variant MODIFIER c.117+18884C>A
c.117+18884C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13028268
chr20:13028330 A
A
 T
T
 11 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
others(8): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0009g0151
 11 HG01106.hp2
HG02723.hp2
HG02809.hp1
others(8): Show 
HG01106.hp2
HG02723.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03195.hp1
HG03471.hp2
HG03516.hp2
HG03540.hp1
NA19030.hp2
 intron_variant MODIFIER c.117+18946A>T
c.117+18946A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13028330
chr20:13028465 C
C
 G
G
 9 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.117+19081C>G
c.117+19081C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13028465
chr20:13028485 A
A
 G
G
 5 a0002c0002t0002g0046
a0002c0002t0007g0246
a0002c0002t0008g0047
others(2): Show 
a0002c0002t0002g0046
a0002c0002t0007g0246
a0002c0002t0008g0047
a0002c0002t0021g0065
a0003c0007t0006g0066
 5 HG01261.hp2
HG02293.hp2
HG03831.hp1
others(2): Show 
HG01261.hp2
HG02293.hp2
HG03831.hp1
HG04115.hp1
NA20752.hp1
 intron_variant MODIFIER c.117+19101A>G
c.117+19101A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13028485
chr20:13028564 A
A
 G
G
 1 a0001c0001t0003g0070
a0001c0001t0003g0070
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.117+19180A>G
c.117+19180A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13028564
chr20:13028623 C
C
 A
A
 9 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.117+19239C>A
c.117+19239C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13028623
chr20:13028624 A
A
 G
G
 20 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
others(17): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0003g0157
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0009g0151
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 20 HG00741.hp1
HG01106.hp2
HG01243.hp2
others(17): Show 
HG00741.hp1
HG01106.hp2
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03471.hp2
HG03516.hp2
HG03540.hp1
NA19030.hp2
NA20805.hp2
 intron_variant MODIFIER c.117+19240A>G
c.117+19240A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13028624
chr20:13028651 A
A
 G
G
 1 a0001c0003t0010g0236
a0001c0003t0010g0236
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.117+19267A>G
c.117+19267A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13028651
chr20:13028689 CAAGAT
CAAGAT
 C
C
 11 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
others(8): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0009g0151
 11 HG01106.hp2
HG02723.hp2
HG02809.hp1
others(8): Show 
HG01106.hp2
HG02723.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03195.hp1
HG03471.hp2
HG03516.hp2
HG03540.hp1
NA19030.hp2
 intron_variant MODIFIER c.117+19310_117+1931
others(9): Show 
c.117+19310_117+19314delTAAGA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13028689
chr20:13028716 G
G
 A
A
 9 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.117+19332G>A
c.117+19332G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13028716
chr20:13028800 C
C
 T
T
 1 a0001c0001t0021g0064
a0001c0001t0021g0064
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.117+19416C>T
c.117+19416C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13028800
chr20:13028857 G
G
 A
A
 6 a0001c0001t0001g0181
a0001c0001t0002g0011
a0001c0001t0003g0180
others(3): Show 
a0001c0001t0001g0181
a0001c0001t0002g0011
a0001c0001t0003g0180
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0017g0205
 6 HG00438.hp1
NA18943.hp2
NA18957.hp1
others(3): Show 
HG00438.hp1
NA18943.hp2
NA18957.hp1
NA19012.hp1
NA19074.hp1
NA19089.hp2
 intron_variant MODIFIER c.117+19473G>A
c.117+19473G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13028857
chr20:13028993 G
G
 C
C
 20 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
others(17): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0003g0157
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0009g0151
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 20 HG00741.hp1
HG01106.hp2
HG01243.hp2
others(17): Show 
HG00741.hp1
HG01106.hp2
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03471.hp2
HG03516.hp2
HG03540.hp1
NA19030.hp2
NA20805.hp2
 intron_variant MODIFIER c.117+19609G>C
c.117+19609G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13028993
chr20:13029008 C
C
 G
G
 1 a0001c0001t0045g0163
a0001c0001t0045g0163
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.117+19624C>G
c.117+19624C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13029008
chr20:13029013 A
A
 T
T
 9 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.117+19629A>T
c.117+19629A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13029013
chr20:13029039 G
G
 A
A
 9 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.117+19655G>A
c.117+19655G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13029039
chr20:13029040 A
A
 G
G
 20 a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
others(17): Show 
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0003t0011g0082
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
 20 HG00140.hp1
HG00735.hp2
HG01123.hp2
others(17): Show 
HG00140.hp1
HG00735.hp2
HG01123.hp2
HG01258.hp2
HG01884.hp2
HG01891.hp1
HG01978.hp2
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02486.hp2
HG02622.hp2
HG02647.hp1
HG02738.hp2
HG03139.hp1
HG03195.hp2
HG03491.hp1
HG06807.hp1
NA18522.hp1
NA20805.hp1
 intron_variant MODIFIER c.117+19656A>G
c.117+19656A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13029040
chr20:13029145 T
T
 G
G
 9 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.117+19761T>G
c.117+19761T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13029145
chr20:13029278 C
C
 T
T
 67 a0001c0001t0002g0003
a0001c0001t0002g0015
a0001c0001t0002g0021
others(64): Show 
a0001c0001t0002g0003
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0008g0005
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0013g0060
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0003t0005g0172
a0001c0003t0006g0040
a0001c0003t0032g0022
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 67 HG00423.hp2
HG00621.hp1
HG00642.hp2
others(64): Show 
HG00423.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG01168.hp2
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02135.hp2
HG02258.hp1
HG02293.hp2
HG02451.hp2
HG02895.hp1
HG02897.hp2
HG03130.hp1
HG03239.hp1
HG03669.hp2
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18944.hp1
NA18946.hp1
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18977.hp1
NA18981.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA19004.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19068.hp2
NA19070.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.118-19667C>T
c.118-19667C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13029278
chr20:13029279 G
G
 A
A
 1 a0001c0001t0045g0163
a0001c0001t0045g0163
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.118-19666G>A
c.118-19666G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13029279
chr20:13029293 G
G
 T
T
 2 a0001c0001t0001g0292
a0005c0010t0037g0167
a0001c0001t0001g0292
a0005c0010t0037g0167
 2 HG01884.hp1
HG03139.hp2
HG01884.hp1
HG03139.hp2
 intron_variant MODIFIER c.118-19652G>T
c.118-19652G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13029293
chr20:13029324 C
C
 T
T
 9 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.118-19621C>T
c.118-19621C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13029324
chr20:13029435 A
A
 G
G
 1 a0001c0001t0045g0163
a0001c0001t0045g0163
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.118-19510A>G
c.118-19510A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13029435
chr20:13029460 A
A
 G
G
 1 a0001c0005t0005g0069
a0001c0005t0005g0069
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.118-19485A>G
c.118-19485A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13029460
chr20:13029464 C
C
 G
G
 9 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.118-19481C>G
c.118-19481C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13029464
chr20:13029521 T
T
 TTGA
TTGA
 29 a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
others(26): Show 
a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0014g0074
a0001c0001t0019g0053
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0009g0151
a0001c0005t0047g0068
a0001c0009t0011g0161
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 29 HG00741.hp1
HG01106.hp2
HG01243.hp2
others(26): Show 
HG00741.hp1
HG01106.hp2
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG02055.hp1
HG02109.hp2
HG02451.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03516.hp2
HG03540.hp1
NA18522.hp1
NA19030.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.118-19423_118-1942
others(7): Show 
c.118-19423_118-19421dupTGA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13029521
chr20:13029719 C
C
 T
T
 9 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.118-19226C>T
c.118-19226C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13029719
chr20:13029811 G
G
 A
A
 5 a0001c0001t0001g0134
a0001c0001t0003g0131
a0001c0001t0003g0133
others(2): Show 
a0001c0001t0001g0134
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0003t0005g0132
a0001c0003t0006g0048
 5 HG00673.hp2
NA18747.hp1
NA18982.hp2
others(2): Show 
HG00673.hp2
NA18747.hp1
NA18982.hp2
NA19004.hp2
NA19077.hp1
 intron_variant MODIFIER c.118-19134G>A
c.118-19134G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13029811
chr20:13029874 T
T
 C
C
 26 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
others(23): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0009g0151
a0001c0009t0011g0161
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 26 HG00741.hp1
HG01106.hp2
HG01243.hp2
others(23): Show 
HG00741.hp1
HG01106.hp2
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG02055.hp1
HG02109.hp2
HG02451.hp1
HG02559.hp2
HG02622.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03471.hp2
HG03516.hp2
HG03540.hp1
NA18522.hp1
NA19030.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.118-19071T>C
c.118-19071T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13029874
chr20:13029875 G
G
 A
A
 9 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.118-19070G>A
c.118-19070G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13029875
chr20:13029895 C
C
 A
A
 1 a0001c0004t0065g0284
a0001c0004t0065g0284
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.118-19050C>A
c.118-19050C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13029895
chr20:13029917 C
C
 T
T
 9 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.118-19028C>T
c.118-19028C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13029917
chr20:13029994 T
T
 C
C
 1 a0001c0001t0001g0103
a0001c0001t0001g0103
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.118-18951T>C
c.118-18951T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13029994
chr20:13030046 T
T
 C
C
 1 a0001c0001t0045g0163
a0001c0001t0045g0163
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.118-18899T>C
c.118-18899T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13030046
chr20:13030303 T
T
 C
C
 9 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.118-18642T>C
c.118-18642T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13030303
chr20:13030507 C
C
 T
T
 1 a0001c0001t0033g0045
a0001c0001t0033g0045
 1 NA19086.hp2
NA19086.hp2
 intron_variant MODIFIER c.118-18438C>T
c.118-18438C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13030507
chr20:13030613 C
C
 T
T
 9 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.118-18332C>T
c.118-18332C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13030613
chr20:13030668 T
T
 C
C
 5 a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
others(2): Show 
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0046g0071
a0001c0012t0023g0165
 5 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(2): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG02895.hp2
NA20805.hp2
 intron_variant MODIFIER c.118-18277T>C
c.118-18277T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13030668
chr20:13030686 G
G
 T
T
 1 a0001c0001t0014g0074
a0001c0001t0014g0074
 1 HG01515.hp2
HG01515.hp2
 intron_variant MODIFIER c.118-18259G>T
c.118-18259G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13030686
chr20:13030750 G
G
 A
A
 1 a0002c0002t0002g0051
a0002c0002t0002g0051
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.118-18195G>A
c.118-18195G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13030750
chr20:13030761 T
T
 C
C
 3 a0001c0001t0001g0159
a0001c0001t0019g0160
a0001c0003t0010g0236
a0001c0001t0001g0159
a0001c0001t0019g0160
a0001c0003t0010g0236
 3 HG01167.hp2
HG06807.hp2
NA21309.hp2
HG01167.hp2
HG06807.hp2
NA21309.hp2
 intron_variant MODIFIER c.118-18184T>C
c.118-18184T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13030761
chr20:13030787 G
G
 T
T
 9 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.118-18158G>T
c.118-18158G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13030787
chr20:13030798 T
T
 A
A
 1 a0001c0001t0045g0163
a0001c0001t0045g0163
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.118-18147T>A
c.118-18147T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13030798
chr20:13030827 A
A
 C
C
 26 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
others(23): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0009g0151
a0001c0009t0011g0161
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 26 HG00741.hp1
HG01106.hp2
HG01243.hp2
others(23): Show 
HG00741.hp1
HG01106.hp2
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG02055.hp1
HG02109.hp2
HG02451.hp1
HG02559.hp2
HG02622.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03471.hp2
HG03516.hp2
HG03540.hp1
NA18522.hp1
NA19030.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.118-18118A>C
c.118-18118A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13030827
chr20:13030909 A
A
 C
C
 1 a0001c0001t0045g0163
a0001c0001t0045g0163
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.118-18036A>C
c.118-18036A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13030909
chr20:13030921 T
T
 A
A
 1 a0001c0004t0065g0284
a0001c0004t0065g0284
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.118-18024T>A
c.118-18024T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13030921
chr20:13030972 C
C
 T
T
 5 a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
others(2): Show 
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0046g0071
a0001c0012t0023g0165
 5 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(2): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG02895.hp2
NA20805.hp2
 intron_variant MODIFIER c.118-17973C>T
c.118-17973C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13030972
chr20:13031047 C
C
 A
A
 9 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.118-17898C>A
c.118-17898C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13031047
chr20:13031096 A
A
 G
G
 1 a0001c0001t0020g0138
a0001c0001t0020g0138
 1 HG03669.hp2
HG03669.hp2
 intron_variant MODIFIER c.118-17849A>G
c.118-17849A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13031096
chr20:13031138 C
C
 T
T
 1 a0001c0001t0059g0290
a0001c0001t0059g0290
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.118-17807C>T
c.118-17807C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13031138
chr20:13031151 C
C
 T
T
 1 a0001c0001t0057g0281
a0001c0001t0057g0281
 1 HG02015.hp2
HG02015.hp2
 intron_variant MODIFIER c.118-17794C>T
c.118-17794C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13031151
chr20:13031230 G
G
 A
A
 1 a0001c0001t0045g0163
a0001c0001t0045g0163
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.118-17715G>A
c.118-17715G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13031230
chr20:13031242 C
C
 T
T
 14 a0001c0003t0011g0082
a0001c0005t0001g0080
a0001c0005t0001g0089
others(11): Show 
a0001c0003t0011g0082
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0014t0005g0083
 14 HG00140.hp1
HG00735.hp2
HG01123.hp2
others(11): Show 
HG00140.hp1
HG00735.hp2
HG01123.hp2
HG01258.hp2
HG01891.hp1
HG01978.hp2
HG02280.hp2
HG02486.hp2
HG02647.hp1
HG02738.hp2
HG03139.hp1
HG03195.hp2
HG03491.hp1
HG06807.hp1
 intron_variant MODIFIER c.118-17703C>T
c.118-17703C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13031242
chr20:13031271 T
T
 C
C
 8 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(5): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 8 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(5): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.118-17674T>C
c.118-17674T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13031271
chr20:13031521 T
T
 A
A
 2 a0001c0001t0001g0292
a0005c0010t0037g0167
a0001c0001t0001g0292
a0005c0010t0037g0167
 2 HG01884.hp1
HG03139.hp2
HG01884.hp1
HG03139.hp2
 intron_variant MODIFIER c.118-17424T>A
c.118-17424T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13031521
chr20:13031642 C
C
 A
A
 1 a0001c0001t0045g0163
a0001c0001t0045g0163
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.118-17303C>A
c.118-17303C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13031642
chr20:13031687 C
C
 T
T
 2 a0001c0001t0001g0292
a0005c0010t0037g0167
a0001c0001t0001g0292
a0005c0010t0037g0167
 2 HG01884.hp1
HG03139.hp2
HG01884.hp1
HG03139.hp2
 intron_variant MODIFIER c.118-17258C>T
c.118-17258C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13031687
chr20:13031725 C
C
 A
A
 2 a0001c0001t0003g0076
a0001c0003t0049g0077
a0001c0001t0003g0076
a0001c0003t0049g0077
 2 NA18961.hp2
NA19066.hp1
NA18961.hp2
NA19066.hp1
 intron_variant MODIFIER c.118-17220C>A
c.118-17220C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13031725
chr20:13031758 CT
CT
 C
C
 4 a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
others(1): Show 
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0046g0071
 4 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(1): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
NA20805.hp2
 intron_variant MODIFIER c.118-17186delT
c.118-17186delT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13031758
chr20:13031764 T
T
 A
A
 9 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.118-17181T>A
c.118-17181T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13031764
chr20:13032089 T
T
 A
A
 114 a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
others(111): Show 
a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0008g0005
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0003t0005g0172
a0001c0003t0006g0040
a0001c0003t0010g0236
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0032g0022
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0006g0033
a0005c0010t0037g0167
a0005c0011t0023g0166
a0007c0017t0013g0049
a0008c0015t0002g0050
 114 HG00140.hp1
HG00423.hp2
HG00621.hp1
others(111): Show 
HG00140.hp1
HG00423.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01168.hp2
HG01243.hp2
HG01258.hp2
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp2
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18977.hp1
NA18981.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA19004.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19068.hp2
NA19070.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.118-16856T>A
c.118-16856T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13032089
chr20:13032131 A
A
 T
T
 9 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.118-16814A>T
c.118-16814A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13032131
chr20:13032174 C
C
 T
T
 9 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.118-16771C>T
c.118-16771C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13032174
chr20:13032235 A
A
 T
T
 1 a0001c0001t0019g0160
a0001c0001t0019g0160
 1 HG01167.hp2
HG01167.hp2
 intron_variant MODIFIER c.118-16710A>T
c.118-16710A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13032235
chr20:13032302 A
A
 G
G
 10 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0008g0005
others(7): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0008g0005
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 10 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(7): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp2
NA19004.hp1
NA20805.hp2
 intron_variant MODIFIER c.118-16643A>G
c.118-16643A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13032302
chr20:13032370 C
C
 T
T
 9 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.118-16575C>T
c.118-16575C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13032370
chr20:13032384 G
G
 C
C
 2 a0005c0010t0037g0167
a0005c0011t0023g0166
a0005c0010t0037g0167
a0005c0011t0023g0166
 2 HG01884.hp1
HG02451.hp1
HG01884.hp1
HG02451.hp1
 intron_variant MODIFIER c.118-16561G>C
c.118-16561G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13032384
chr20:13032452 A
A
 G
G
 1 a0001c0001t0015g0265
a0001c0001t0015g0265
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.118-16493A>G
c.118-16493A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13032452
chr20:13032489 A
A
 G
G
 3 a0001c0001t0001g0159
a0001c0001t0019g0160
a0001c0003t0010g0236
a0001c0001t0001g0159
a0001c0001t0019g0160
a0001c0003t0010g0236
 3 HG01167.hp2
HG06807.hp2
NA21309.hp2
HG01167.hp2
HG06807.hp2
NA21309.hp2
 intron_variant MODIFIER c.118-16456A>G
c.118-16456A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13032489
chr20:13032680 A
A
 C
C
 273 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(270): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0229
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 273 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(270): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.118-16265A>C
c.118-16265A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13032680
chr20:13032691 T
T
 C
C
 17 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
others(14): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0009g0151
a0001c0009t0011g0161
 17 HG01106.hp2
HG01884.hp2
HG02055.hp1
others(14): Show 
HG01106.hp2
HG01884.hp2
HG02055.hp1
HG02109.hp2
HG02622.hp2
HG02723.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03195.hp1
HG03471.hp2
HG03516.hp2
HG03540.hp1
NA18522.hp1
NA19030.hp2
NA20805.hp1
 intron_variant MODIFIER c.118-16254T>C
c.118-16254T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13032691
chr20:13032696 A
A
 G
G
 17 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
others(14): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0009g0151
a0001c0009t0011g0161
 17 HG01106.hp2
HG01884.hp2
HG02055.hp1
others(14): Show 
HG01106.hp2
HG01884.hp2
HG02055.hp1
HG02109.hp2
HG02622.hp2
HG02723.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03195.hp1
HG03471.hp2
HG03516.hp2
HG03540.hp1
NA18522.hp1
NA19030.hp2
NA20805.hp1
 intron_variant MODIFIER c.118-16249A>G
c.118-16249A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13032696
chr20:13032843 A
A
 G
G
 1 a0001c0004t0016g0091
a0001c0004t0016g0091
 1 HG00639.hp1
HG00639.hp1
 intron_variant MODIFIER c.118-16102A>G
c.118-16102A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13032843
chr20:13033017 A
A
 G
G
 9 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.118-15928A>G
c.118-15928A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13033017
chr20:13033094 T
T
 C
C
 1 a0001c0001t0051g0075
a0001c0001t0051g0075
 1 HG00323.hp1
HG00323.hp1
 intron_variant MODIFIER c.118-15851T>C
c.118-15851T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13033094
chr20:13033167 C
C
 A
A
 14 a0001c0003t0011g0082
a0001c0005t0001g0080
a0001c0005t0001g0089
others(11): Show 
a0001c0003t0011g0082
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0014t0005g0083
 14 HG00140.hp1
HG00735.hp2
HG01123.hp2
others(11): Show 
HG00140.hp1
HG00735.hp2
HG01123.hp2
HG01258.hp2
HG01891.hp1
HG01978.hp2
HG02280.hp2
HG02486.hp2
HG02647.hp1
HG02738.hp2
HG03139.hp1
HG03195.hp2
HG03491.hp1
HG06807.hp1
 intron_variant MODIFIER c.118-15778C>A
c.118-15778C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13033167
chr20:13033167 C
C
 T
T
 9 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.118-15778C>T
c.118-15778C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13033167
chr20:13033219 G
G
 T
T
 9 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.118-15726G>T
c.118-15726G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13033219
chr20:13033229 G
G
 A
A
 9 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.118-15716G>A
c.118-15716G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13033229
chr20:13033461 T
T
 C
C
 1 a0005c0011t0023g0166
a0005c0011t0023g0166
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.118-15484T>C
c.118-15484T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13033461
chr20:13033476 G
G
 C
C
 1 a0001c0001t0019g0160
a0001c0001t0019g0160
 1 HG01167.hp2
HG01167.hp2
 intron_variant MODIFIER c.118-15469G>C
c.118-15469G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13033476
chr20:13033494 T
T
 G
G
 9 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.118-15451T>G
c.118-15451T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13033494
chr20:13033523 C
C
 T
T
 1 a0001c0001t0045g0163
a0001c0001t0045g0163
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.118-15422C>T
c.118-15422C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13033523
chr20:13033530 C
C
 T
T
 1 a0001c0001t0020g0138
a0001c0001t0020g0138
 1 HG03669.hp2
HG03669.hp2
 intron_variant MODIFIER c.118-15415C>T
c.118-15415C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13033530
chr20:13033531 G
G
 A
A
 9 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.118-15414G>A
c.118-15414G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13033531
chr20:13033549 T
T
 A
A
 9 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.118-15396T>A
c.118-15396T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13033549
chr20:13033740 G
G
 A
A
 1 a0001c0005t0009g0151
a0001c0005t0009g0151
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.118-15205G>A
c.118-15205G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13033740
chr20:13033753 T
T
 G
G
 9 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.118-15192T>G
c.118-15192T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13033753
chr20:13033798 T
T
 C
C
 1 a0001c0004t0065g0284
a0001c0004t0065g0284
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.118-15147T>C
c.118-15147T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13033798
chr20:13033829 A
A
 C
C
 1 a0001c0005t0016g0147
a0001c0005t0016g0147
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.118-15116A>C
c.118-15116A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13033829
chr20:13033849 C
C
 G
G
 20 a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
others(17): Show 
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0003t0011g0082
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
 20 HG00140.hp1
HG00735.hp2
HG01123.hp2
others(17): Show 
HG00140.hp1
HG00735.hp2
HG01123.hp2
HG01258.hp2
HG01884.hp2
HG01891.hp1
HG01978.hp2
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02486.hp2
HG02622.hp2
HG02647.hp1
HG02738.hp2
HG03139.hp1
HG03195.hp2
HG03491.hp1
HG06807.hp1
NA18522.hp1
NA20805.hp1
 intron_variant MODIFIER c.118-15096C>G
c.118-15096C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13033849
chr20:13033853 T
T
 A
A
 20 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
others(17): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0003g0157
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0009g0151
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 20 HG00741.hp1
HG01106.hp2
HG01243.hp2
others(17): Show 
HG00741.hp1
HG01106.hp2
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03471.hp2
HG03516.hp2
HG03540.hp1
NA19030.hp2
NA20805.hp2
 intron_variant MODIFIER c.118-15092T>A
c.118-15092T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13033853
chr20:13033905 G
G
 A
A
 2 a0001c0001t0001g0292
a0005c0010t0037g0167
a0001c0001t0001g0292
a0005c0010t0037g0167
 2 HG01884.hp1
HG03139.hp2
HG01884.hp1
HG03139.hp2
 intron_variant MODIFIER c.118-15040G>A
c.118-15040G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13033905
chr20:13033947 G
G
 A
A
 11 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
others(8): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0009g0151
 11 HG01106.hp2
HG02723.hp2
HG02809.hp1
others(8): Show 
HG01106.hp2
HG02723.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03195.hp1
HG03471.hp2
HG03516.hp2
HG03540.hp1
NA19030.hp2
 intron_variant MODIFIER c.118-14998G>A
c.118-14998G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13033947
chr20:13033966 A
A
 C
C
 9 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.118-14979A>C
c.118-14979A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13033966
chr20:13033980 C
C
 T
T
 9 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.118-14965C>T
c.118-14965C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13033980
chr20:13033992 A
A
 G
G
 9 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.118-14953A>G
c.118-14953A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13033992
chr20:13034032 A
A
 T
T
 9 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.118-14913A>T
c.118-14913A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13034032
chr20:13034038 G
G
 A
A
 273 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(270): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0229
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 273 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(270): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.118-14907G>A
c.118-14907G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13034038
chr20:13034055 T
T
 A
A
 9 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.118-14890T>A
c.118-14890T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13034055
chr20:13034088 T
T
 C
C
 1 a0001c0001t0027g0268
a0001c0001t0027g0268
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.118-14857T>C
c.118-14857T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13034088
chr20:13034196 GA
GA
 G
G
 115 a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
others(112): Show 
a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0008g0005
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0003t0005g0172
a0001c0003t0006g0040
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0032g0022
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0006g0033
a0005c0010t0037g0167
a0005c0011t0023g0166
a0007c0017t0013g0049
a0008c0015t0002g0050
 115 HG00140.hp1
HG00423.hp2
HG00621.hp1
others(112): Show 
HG00140.hp1
HG00423.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01168.hp2
HG01243.hp2
HG01258.hp2
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp2
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18977.hp1
NA18981.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18998.hp1
NA19004.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19068.hp2
NA19070.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.118-14739delA
c.118-14739delA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13034196
chr20:13034331 T
T
 C
C
 9 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.118-14614T>C
c.118-14614T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13034331
chr20:13034379 G
G
 A
A
 1 a0001c0001t0018g0104
a0001c0001t0018g0104
 1 HG00323.hp2
HG00323.hp2
 intron_variant MODIFIER c.118-14566G>A
c.118-14566G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13034379
chr20:13034399 A
A
 G
G
 11 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
others(8): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0009g0151
 11 HG01106.hp2
HG02723.hp2
HG02809.hp1
others(8): Show 
HG01106.hp2
HG02723.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03195.hp1
HG03471.hp2
HG03516.hp2
HG03540.hp1
NA19030.hp2
 intron_variant MODIFIER c.118-14546A>G
c.118-14546A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13034399
chr20:13034443 C
C
 T
T
 1 a0001c0005t0047g0068
a0001c0005t0047g0068
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.118-14502C>T
c.118-14502C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13034443
chr20:13034643 C
C
 T
T
 34 a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
others(31): Show 
a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0019g0053
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
 34 HG00140.hp1
HG00735.hp2
HG01106.hp2
others(31): Show 
HG00140.hp1
HG00735.hp2
HG01106.hp2
HG01123.hp2
HG01258.hp2
HG01884.hp2
HG01891.hp1
HG01978.hp2
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02486.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG06807.hp1
NA18522.hp1
NA19030.hp2
NA20805.hp1
 intron_variant MODIFIER c.118-14302C>T
c.118-14302C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13034643
chr20:13034666 G
G
 A
A
 34 a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
others(31): Show 
a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0019g0053
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
 34 HG00140.hp1
HG00735.hp2
HG01106.hp2
others(31): Show 
HG00140.hp1
HG00735.hp2
HG01106.hp2
HG01123.hp2
HG01258.hp2
HG01884.hp2
HG01891.hp1
HG01978.hp2
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02486.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG06807.hp1
NA18522.hp1
NA19030.hp2
NA20805.hp1
 intron_variant MODIFIER c.118-14279G>A
c.118-14279G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13034666
chr20:13034750 C
C
 T
T
 34 a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
others(31): Show 
a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0019g0053
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
 34 HG00140.hp1
HG00735.hp2
HG01106.hp2
others(31): Show 
HG00140.hp1
HG00735.hp2
HG01106.hp2
HG01123.hp2
HG01258.hp2
HG01884.hp2
HG01891.hp1
HG01978.hp2
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02486.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG06807.hp1
NA18522.hp1
NA19030.hp2
NA20805.hp1
 intron_variant MODIFIER c.118-14195C>T
c.118-14195C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13034750
chr20:13034790 C
C
 CA
CA
 8 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(5): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 8 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(5): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.118-14145dupA
c.118-14145dupA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13034790
chr20:13034818 G
G
 T
T
 1 a0001c0001t0003g0135
a0001c0001t0003g0135
 1 HG00609.hp2
HG00609.hp2
 intron_variant MODIFIER c.118-14127G>T
c.118-14127G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13034818
chr20:13035036 T
T
 A
A
 34 a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
others(31): Show 
a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0019g0053
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
 34 HG00140.hp1
HG00735.hp2
HG01106.hp2
others(31): Show 
HG00140.hp1
HG00735.hp2
HG01106.hp2
HG01123.hp2
HG01258.hp2
HG01884.hp2
HG01891.hp1
HG01978.hp2
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02486.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG06807.hp1
NA18522.hp1
NA19030.hp2
NA20805.hp1
 intron_variant MODIFIER c.118-13909T>A
c.118-13909T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13035036
chr20:13035110 C
C
 T
T
 41 a0001c0001t0001g0203
a0001c0001t0004g0229
a0001c0001t0004g0242
others(38): Show 
a0001c0001t0001g0203
a0001c0001t0004g0229
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0007g0230
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0012g0259
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0016g0091
a0001c0005t0010g0231
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0062g0280
a0004c0008t0028g0276
a0006c0016t0064g0248
 41 HG00408.hp2
HG00639.hp1
HG00741.hp2
others(38): Show 
HG00408.hp2
HG00639.hp1
HG00741.hp2
HG01109.hp2
HG01516.hp1
HG01952.hp2
HG02015.hp2
HG02056.hp2
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02738.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp2
NA18944.hp2
NA18945.hp1
NA18956.hp1
NA18959.hp1
NA18970.hp2
NA18973.hp2
NA18990.hp2
NA19000.hp1
NA19001.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp2
NA20300.hp1
 intron_variant MODIFIER c.118-13835C>T
c.118-13835C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13035110
chr20:13035237 T
T
 C
C
 1 a0001c0001t0051g0075
a0001c0001t0051g0075
 1 HG00323.hp1
HG00323.hp1
 intron_variant MODIFIER c.118-13708T>C
c.118-13708T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13035237
chr20:13035275 A
A
 T
T
 42 a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
others(39): Show 
a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0014g0074
a0001c0001t0019g0053
a0001c0001t0044g0073
a0001c0001t0046g0071
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0005c0010t0037g0167
a0005c0011t0023g0166
 42 HG00140.hp1
HG00735.hp2
HG00741.hp1
others(39): Show 
HG00140.hp1
HG00735.hp2
HG00741.hp1
HG01106.hp2
HG01123.hp2
HG01243.hp2
HG01258.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp2
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG06807.hp1
NA18522.hp1
NA19030.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.118-13670A>T
c.118-13670A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13035275
chr20:13035319 A
A
 G
G
 1 a0001c0001t0004g0247
a0001c0001t0004g0247
 1 NA19063.hp2
NA19063.hp2
 intron_variant MODIFIER c.118-13626A>G
c.118-13626A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13035319
chr20:13035319 A
A
 T
T
 1 a0001c0003t0010g0236
a0001c0003t0010g0236
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.118-13626A>T
c.118-13626A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13035319
chr20:13035327 T
T
 G
G
 26 a0001c0001t0001g0173
a0001c0001t0001g0203
a0001c0001t0004g0242
others(23): Show 
a0001c0001t0001g0173
a0001c0001t0001g0203
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0029g0275
a0001c0003t0029g0283
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0062g0280
a0004c0008t0028g0276
a0006c0016t0064g0248
 26 HG00408.hp2
HG00609.hp1
HG00741.hp2
others(23): Show 
HG00408.hp2
HG00609.hp1
HG00741.hp2
HG01516.hp1
HG01952.hp2
HG02015.hp2
HG02056.hp2
HG02135.hp1
HG02293.hp1
HG02602.hp2
HG02738.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp2
NA18944.hp2
NA18945.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18970.hp2
NA18973.hp2
NA18990.hp2
NA19000.hp1
NA19001.hp1
NA19057.hp2
NA19063.hp2
 intron_variant MODIFIER c.118-13618T>G
c.118-13618T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13035327
chr20:13035350 C
C
 A
A
 6 a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0003t0010g0271
others(3): Show 
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0012g0245
a0001c0005t0004g0244
 6 HG01069.hp1
HG01071.hp1
HG02258.hp2
others(3): Show 
HG01069.hp1
HG01071.hp1
HG02258.hp2
HG03041.hp1
HG04115.hp2
NA19240.hp2
 intron_variant MODIFIER c.118-13595C>A
c.118-13595C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13035350
chr20:13035350 C
C
 T
T
 1 a0005c0011t0023g0166
a0005c0011t0023g0166
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.118-13595C>T
c.118-13595C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13035350
chr20:13035351 G
G
 A
A
 1 a0001c0001t0001g0182
a0001c0001t0001g0182
 1 NA19062.hp2
NA19062.hp2
 intron_variant MODIFIER c.118-13594G>A
c.118-13594G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13035351
chr20:13035362 C
C
 T
T
 8 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(5): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 8 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(5): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.118-13583C>T
c.118-13583C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13035362
chr20:13035492 T
T
 A
A
 5 a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
others(2): Show 
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0046g0071
a0001c0012t0023g0165
 5 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(2): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG02895.hp2
NA20805.hp2
 intron_variant MODIFIER c.118-13453T>A
c.118-13453T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13035492
chr20:13035522 G
G
 A
A
 1 a0001c0005t0048g0164
a0001c0005t0048g0164
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.118-13423G>A
c.118-13423G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13035522
chr20:13035672 A
A
 G
G
 8 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(5): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 8 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(5): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.118-13273A>G
c.118-13273A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13035672
chr20:13035719 C
C
 T
T
 2 a0001c0001t0001g0052
a0001c0001t0019g0053
a0001c0001t0001g0052
a0001c0001t0019g0053
 2 HG03209.hp1
HG03225.hp1
HG03209.hp1
HG03225.hp1
 intron_variant MODIFIER c.118-13226C>T
c.118-13226C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13035719
chr20:13035805 T
T
 A
A
 31 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
others(28): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
 31 HG00140.hp1
HG00735.hp2
HG01106.hp2
others(28): Show 
HG00140.hp1
HG00735.hp2
HG01106.hp2
HG01123.hp2
HG01258.hp2
HG01884.hp2
HG01891.hp1
HG01978.hp2
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02486.hp2
HG02622.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03471.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG06807.hp1
NA18522.hp1
NA19030.hp2
NA20805.hp1
 intron_variant MODIFIER c.118-13140T>A
c.118-13140T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13035805
chr20:13035874 T
T
 C
C
 1 a0001c0004t0065g0284
a0001c0004t0065g0284
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.118-13071T>C
c.118-13071T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13035874
chr20:13035915 A
A
 T
T
 4 a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
others(1): Show 
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0046g0071
 4 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(1): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
NA20805.hp2
 intron_variant MODIFIER c.118-13030A>T
c.118-13030A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13035915
chr20:13036038 T
T
 C
C
 34 a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
others(31): Show 
a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0019g0053
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
 34 HG00140.hp1
HG00735.hp2
HG01106.hp2
others(31): Show 
HG00140.hp1
HG00735.hp2
HG01106.hp2
HG01123.hp2
HG01258.hp2
HG01884.hp2
HG01891.hp1
HG01978.hp2
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02486.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG06807.hp1
NA18522.hp1
NA19030.hp2
NA20805.hp1
 intron_variant MODIFIER c.118-12907T>C
c.118-12907T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13036038
chr20:13036137 A
A
 C
C
 34 a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
others(31): Show 
a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0019g0053
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
 34 HG00140.hp1
HG00735.hp2
HG01106.hp2
others(31): Show 
HG00140.hp1
HG00735.hp2
HG01106.hp2
HG01123.hp2
HG01258.hp2
HG01884.hp2
HG01891.hp1
HG01978.hp2
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02486.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG06807.hp1
NA18522.hp1
NA19030.hp2
NA20805.hp1
 intron_variant MODIFIER c.118-12808A>C
c.118-12808A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13036137
chr20:13036138 C
C
 T
T
 6 a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
others(3): Show 
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0011t0023g0166
 6 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(3): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG02451.hp1
HG02895.hp2
NA20805.hp2
 intron_variant MODIFIER c.118-12807C>T
c.118-12807C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13036138
chr20:13036153 T
T
 A
A
 34 a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
others(31): Show 
a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0019g0053
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
 34 HG00140.hp1
HG00735.hp2
HG01106.hp2
others(31): Show 
HG00140.hp1
HG00735.hp2
HG01106.hp2
HG01123.hp2
HG01258.hp2
HG01884.hp2
HG01891.hp1
HG01978.hp2
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02486.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG06807.hp1
NA18522.hp1
NA19030.hp2
NA20805.hp1
 intron_variant MODIFIER c.118-12792T>A
c.118-12792T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13036153
chr20:13036469 T
T
 G
G
 34 a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
others(31): Show 
a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0019g0053
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
 34 HG00140.hp1
HG00735.hp2
HG01106.hp2
others(31): Show 
HG00140.hp1
HG00735.hp2
HG01106.hp2
HG01123.hp2
HG01258.hp2
HG01884.hp2
HG01891.hp1
HG01978.hp2
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02486.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG06807.hp1
NA18522.hp1
NA19030.hp2
NA20805.hp1
 intron_variant MODIFIER c.118-12476T>G
c.118-12476T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13036469
chr20:13036527 T
T
 C
C
 34 a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
others(31): Show 
a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0019g0053
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
 34 HG00140.hp1
HG00735.hp2
HG01106.hp2
others(31): Show 
HG00140.hp1
HG00735.hp2
HG01106.hp2
HG01123.hp2
HG01258.hp2
HG01884.hp2
HG01891.hp1
HG01978.hp2
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02486.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG06807.hp1
NA18522.hp1
NA19030.hp2
NA20805.hp1
 intron_variant MODIFIER c.118-12418T>C
c.118-12418T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13036527
chr20:13036544 G
G
 A
A
 34 a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
others(31): Show 
a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0019g0053
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
 34 HG00140.hp1
HG00735.hp2
HG01106.hp2
others(31): Show 
HG00140.hp1
HG00735.hp2
HG01106.hp2
HG01123.hp2
HG01258.hp2
HG01884.hp2
HG01891.hp1
HG01978.hp2
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02486.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG06807.hp1
NA18522.hp1
NA19030.hp2
NA20805.hp1
 intron_variant MODIFIER c.118-12401G>A
c.118-12401G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13036544
chr20:13036852 G
G
 A
A
 1 a0001c0001t0001g0203
a0001c0001t0001g0203
 1 NA19000.hp1
NA19000.hp1
 intron_variant MODIFIER c.118-12093G>A
c.118-12093G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13036852
chr20:13036916 G
G
 A
A
 34 a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
others(31): Show 
a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0019g0053
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
 34 HG00140.hp1
HG00735.hp2
HG01106.hp2
others(31): Show 
HG00140.hp1
HG00735.hp2
HG01106.hp2
HG01123.hp2
HG01258.hp2
HG01884.hp2
HG01891.hp1
HG01978.hp2
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02486.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG06807.hp1
NA18522.hp1
NA19030.hp2
NA20805.hp1
 intron_variant MODIFIER c.118-12029G>A
c.118-12029G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13036916
chr20:13037002 C
C
 T
T
 1 a0001c0001t0007g0241
a0001c0001t0007g0241
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.118-11943C>T
c.118-11943C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13037002
chr20:13037147 A
A
 AT
AT
 5 a0002c0002t0002g0046
a0002c0002t0007g0246
a0002c0002t0008g0047
others(2): Show 
a0002c0002t0002g0046
a0002c0002t0007g0246
a0002c0002t0008g0047
a0002c0002t0021g0065
a0003c0007t0006g0066
 5 HG01261.hp2
HG02293.hp2
HG03831.hp1
others(2): Show 
HG01261.hp2
HG02293.hp2
HG03831.hp1
HG04115.hp1
NA20752.hp1
 intron_variant MODIFIER c.118-11792dupT
c.118-11792dupT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13037147
chr20:13037201 A
A
 G
G
 1 a0002c0018t0002g0054
a0002c0018t0002g0054
 1 NA19086.hp1
NA19086.hp1
 intron_variant MODIFIER c.118-11744A>G
c.118-11744A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13037201
chr20:13037202 T
T
 C
C
 1 a0004c0008t0005g0140
a0004c0008t0005g0140
 1 HG01975.hp2
HG01975.hp2
 intron_variant MODIFIER c.118-11743T>C
c.118-11743T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13037202
chr20:13037284 A
A
 G
G
 2 a0001c0001t0001g0159
a0001c0001t0019g0160
a0001c0001t0001g0159
a0001c0001t0019g0160
 2 HG01167.hp2
HG06807.hp2
HG01167.hp2
HG06807.hp2
 intron_variant MODIFIER c.118-11661A>G
c.118-11661A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13037284
chr20:13037408 G
G
 A
A
 34 a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
others(31): Show 
a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0019g0053
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
 34 HG00140.hp1
HG00735.hp2
HG01106.hp2
others(31): Show 
HG00140.hp1
HG00735.hp2
HG01106.hp2
HG01123.hp2
HG01258.hp2
HG01884.hp2
HG01891.hp1
HG01978.hp2
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02486.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG06807.hp1
NA18522.hp1
NA19030.hp2
NA20805.hp1
 intron_variant MODIFIER c.118-11537G>A
c.118-11537G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13037408
chr20:13037411 T
T
 A
A
 3 a0001c0001t0001g0052
a0001c0001t0019g0053
a0001c0005t0047g0068
a0001c0001t0001g0052
a0001c0001t0019g0053
a0001c0005t0047g0068
 3 HG02615.hp2
HG03209.hp1
HG03225.hp1
HG02615.hp2
HG03209.hp1
HG03225.hp1
 intron_variant MODIFIER c.118-11534T>A
c.118-11534T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13037411
chr20:13037445 G
G
 C
C
 1 a0001c0004t0017g0105
a0001c0004t0017g0105
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.118-11500G>C
c.118-11500G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13037445
chr20:13037505 T
T
 C
C
 34 a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
others(31): Show 
a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0019g0053
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
 34 HG00140.hp1
HG00735.hp2
HG01106.hp2
others(31): Show 
HG00140.hp1
HG00735.hp2
HG01106.hp2
HG01123.hp2
HG01258.hp2
HG01884.hp2
HG01891.hp1
HG01978.hp2
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02486.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG06807.hp1
NA18522.hp1
NA19030.hp2
NA20805.hp1
 intron_variant MODIFIER c.118-11440T>C
c.118-11440T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13037505
chr20:13037615 A
A
 G
G
 34 a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
others(31): Show 
a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0019g0053
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
 34 HG00140.hp1
HG00735.hp2
HG01106.hp2
others(31): Show 
HG00140.hp1
HG00735.hp2
HG01106.hp2
HG01123.hp2
HG01258.hp2
HG01884.hp2
HG01891.hp1
HG01978.hp2
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02486.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG06807.hp1
NA18522.hp1
NA19030.hp2
NA20805.hp1
 intron_variant MODIFIER c.118-11330A>G
c.118-11330A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13037615
chr20:13037665 C
C
 T
T
 1 a0001c0001t0012g0259
a0001c0001t0012g0259
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.118-11280C>T
c.118-11280C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13037665
chr20:13037703 C
C
 T
T
 1 a0001c0004t0065g0284
a0001c0004t0065g0284
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.118-11242C>T
c.118-11242C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13037703
chr20:13037802 G
G
 A
A
 67 a0001c0001t0002g0003
a0001c0001t0002g0015
a0001c0001t0002g0021
others(64): Show 
a0001c0001t0002g0003
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0008g0005
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0013g0060
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0003t0005g0172
a0001c0003t0006g0040
a0001c0003t0032g0022
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 67 HG00423.hp2
HG00621.hp1
HG00642.hp2
others(64): Show 
HG00423.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG01168.hp2
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02135.hp2
HG02258.hp1
HG02293.hp2
HG02451.hp2
HG02895.hp1
HG02897.hp2
HG03130.hp1
HG03239.hp1
HG03669.hp2
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18944.hp1
NA18946.hp1
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18977.hp1
NA18981.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA19004.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19068.hp2
NA19070.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.118-11143G>A
c.118-11143G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13037802
chr20:13037821 T
T
 C
C
 20 a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
others(17): Show 
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0003t0011g0082
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
 20 HG00140.hp1
HG00735.hp2
HG01123.hp2
others(17): Show 
HG00140.hp1
HG00735.hp2
HG01123.hp2
HG01258.hp2
HG01884.hp2
HG01891.hp1
HG01978.hp2
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02486.hp2
HG02622.hp2
HG02647.hp1
HG02738.hp2
HG03139.hp1
HG03195.hp2
HG03491.hp1
HG06807.hp1
NA18522.hp1
NA20805.hp1
 intron_variant MODIFIER c.118-11124T>C
c.118-11124T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13037821
chr20:13037846 C
C
 T
T
 34 a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
others(31): Show 
a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0019g0053
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
 34 HG00140.hp1
HG00735.hp2
HG01106.hp2
others(31): Show 
HG00140.hp1
HG00735.hp2
HG01106.hp2
HG01123.hp2
HG01258.hp2
HG01884.hp2
HG01891.hp1
HG01978.hp2
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02486.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG06807.hp1
NA18522.hp1
NA19030.hp2
NA20805.hp1
 intron_variant MODIFIER c.118-11099C>T
c.118-11099C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13037846
chr20:13037869 G
G
 C
C
 1 a0001c0001t0021g0064
a0001c0001t0021g0064
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.118-11076G>C
c.118-11076G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13037869
chr20:13038022 T
T
 C
C
 1 a0001c0001t0001g0106
a0001c0001t0001g0106
 1 NA18998.hp2
NA18998.hp2
 intron_variant MODIFIER c.118-10923T>C
c.118-10923T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13038022
chr20:13038023 G
G
 A
A
 34 a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
others(31): Show 
a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0019g0053
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
 34 HG00140.hp1
HG00735.hp2
HG01106.hp2
others(31): Show 
HG00140.hp1
HG00735.hp2
HG01106.hp2
HG01123.hp2
HG01258.hp2
HG01884.hp2
HG01891.hp1
HG01978.hp2
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02486.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG06807.hp1
NA18522.hp1
NA19030.hp2
NA20805.hp1
 intron_variant MODIFIER c.118-10922G>A
c.118-10922G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13038023
chr20:13038044 G
G
 A
A
 113 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(110): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0173
a0001c0001t0001g0203
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0005t0004g0244
a0001c0005t0010g0231
a0001c0005t0025g0097
a0002c0002t0001g0102
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0016g0114
a0002c0002t0062g0280
a0003c0007t0006g0010
a0004c0008t0005g0140
a0004c0008t0028g0276
a0006c0016t0064g0248
 113 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(110): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01952.hp2
HG01975.hp2
HG02015.hp1
HG02015.hp2
HG02056.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02738.hp1
HG02922.hp1
HG02965.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03239.hp2
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18982.hp2
NA18990.hp2
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp2
NA19066.hp1
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.118-10901G>A
c.118-10901G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13038044
chr20:13038045 A
A
 AATATAT
AATATAT
 6 a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
others(3): Show 
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0009t0011g0161
 6 HG01884.hp2
HG02055.hp1
HG02109.hp2
others(3): Show 
HG01884.hp2
HG02055.hp1
HG02109.hp2
HG02622.hp2
NA18522.hp1
NA20805.hp1
 intron_variant MODIFIER c.118-10890_118-1088
others(10): Show 
c.118-10890_118-10885dupTATATA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13038045
chr20:13038045 A
A
 AATATATA
others(9): Show 
AATATATATATATATAT
 1 a0001c0005t0009g0151
a0001c0005t0009g0151
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.118-10885_118-1088
others(20): Show 
c.118-10885_118-10884insTATATATATATATATA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13038045
chr20:13038045 A
A
 AATATATA
others(11): Show 
AATATATATATATATATAT
 4 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
others(1): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0003g0157
 4 HG02896.hp2
HG02965.hp1
HG03130.hp2
others(1): Show 
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03516.hp2
 intron_variant MODIFIER c.118-10885_118-1088
others(22): Show 
c.118-10885_118-10884insTATATATATATATATATA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13038045
chr20:13038045 A
A
 AATATATA
others(13): Show 
AATATATATATATATATATAT
 2 a0001c0001t0001g0158
a0001c0003t0011g0162
a0001c0001t0001g0158
a0001c0003t0011g0162
 2 HG02809.hp1
HG03540.hp1
HG02809.hp1
HG03540.hp1
 intron_variant MODIFIER c.118-10885_118-1088
others(24): Show 
c.118-10885_118-10884insTATATATATATATATATATA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13038045
chr20:13038045 A
A
 AATATATA
others(19): Show 
AATATATATATATATATATATATATAT
 3 a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0005t0020g0078
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0005t0020g0078
 3 HG00735.hp2
HG01106.hp2
NA19030.hp2
HG00735.hp2
HG01106.hp2
NA19030.hp2
 intron_variant MODIFIER c.118-10885_118-1088
others(30): Show 
c.118-10885_118-10884insTATATATATATATATATATATATATA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13038045
chr20:13038045 A
A
 AATATATA
others(21): Show 
AATATATATATATATATATATATATATAT
 2 a0001c0001t0001g0052
a0001c0003t0011g0154
a0001c0001t0001g0052
a0001c0003t0011g0154
 2 HG03195.hp1
HG03225.hp1
HG03195.hp1
HG03225.hp1
 intron_variant MODIFIER c.118-10885_118-1088
others(32): Show 
c.118-10885_118-10884insTATATATATATATATATATATATATA
TA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13038045
chr20:13038045 A
A
 AATATATA
others(23): Show 
AATATATATATATATATATATATATATATAT
 7 a0001c0001t0019g0053
a0001c0003t0011g0155
a0001c0005t0001g0080
others(4): Show 
a0001c0001t0019g0053
a0001c0003t0011g0155
a0001c0005t0001g0080
a0001c0005t0005g0081
a0001c0005t0018g0084
a0001c0005t0030g0285
a0001c0014t0005g0083
 7 HG00140.hp1
HG01258.hp2
HG01891.hp1
others(4): Show 
HG00140.hp1
HG01258.hp2
HG01891.hp1
HG02647.hp1
HG03195.hp2
HG03209.hp1
HG03471.hp2
 intron_variant MODIFIER c.118-10885_118-1088
others(34): Show 
c.118-10885_118-10884insTATATATATATATATATATATATATA
TATA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13038045
chr20:13038045 A
A
 AATATATA
others(25): Show 
AATATATATATATATATATATATATATATATAT
 2 a0001c0005t0016g0147
a0001c0005t0025g0088
a0001c0005t0016g0147
a0001c0005t0025g0088
 2 HG02280.hp2
HG02738.hp2
HG02280.hp2
HG02738.hp2
 intron_variant MODIFIER c.118-10885_118-1088
others(36): Show 
c.118-10885_118-10884insTATATATATATATATATATATATATA
TATATA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13038045
chr20:13038045 A
A
 AATATATA
others(27): Show 
AATATATATATATATATATATATATATATATATAT
 3 a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0009g0079
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0009g0079
 3 HG01123.hp2
HG01978.hp2
HG03491.hp1
HG01123.hp2
HG01978.hp2
HG03491.hp1
 intron_variant MODIFIER c.118-10885_118-1088
others(38): Show 
c.118-10885_118-10884insTATATATATATATATATATATATATA
TATATATA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13038045
chr20:13038045 A
A
 AATATATA
others(29): Show 
AATATATATATATATATATATATATATATATATATAT
 1 a0001c0003t0011g0082
a0001c0003t0011g0082
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.118-10885_118-1088
others(40): Show 
c.118-10885_118-10884insTATATATATATATATATATATATATA
TATATATATA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13038045
chr20:13038045 A
A
 AATATATA
others(33): Show 
AATATATATATATATATATATATATATATATATATATATAT
 1 a0001c0005t0047g0068
a0001c0005t0047g0068
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.118-10885_118-1088
others(44): Show 
c.118-10885_118-10884insTATATATATATATATATATATATATA
TATATATATATATA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13038045
chr20:13038045 A
A
 AATATATA
others(35): Show 
AATATATATATATATATATATATATATATATATATATATATAT
 1 a0001c0005t0048g0164
a0001c0005t0048g0164
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.118-10885_118-1088
others(46): Show 
c.118-10885_118-10884insTATATATATATATATATATATATATA
TATATATATATATATA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13038045
chr20:13038089 T
T
 C
C
 5 a0001c0001t0001g0108
a0001c0001t0005g0092
a0001c0001t0053g0250
others(2): Show 
a0001c0001t0001g0108
a0001c0001t0005g0092
a0001c0001t0053g0250
a0001c0003t0041g0107
a0004c0008t0005g0140
 5 HG01123.hp1
HG01261.hp1
HG01358.hp1
others(2): Show 
HG01123.hp1
HG01261.hp1
HG01358.hp1
HG01975.hp2
HG02257.hp2
 intron_variant MODIFIER c.118-10856T>C
c.118-10856T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13038089
chr20:13038263 G
G
 A
A
 6 a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
others(3): Show 
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0011t0023g0166
 6 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(3): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG02451.hp1
HG02895.hp2
NA20805.hp2
 intron_variant MODIFIER c.118-10682G>A
c.118-10682G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13038263
chr20:13038453 C
C
 G
G
 16 a0001c0001t0001g0052
a0001c0001t0019g0053
a0001c0005t0001g0080
others(13): Show 
a0001c0001t0001g0052
a0001c0001t0019g0053
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0014t0005g0083
 16 HG00140.hp1
HG00735.hp2
HG01123.hp2
others(13): Show 
HG00140.hp1
HG00735.hp2
HG01123.hp2
HG01258.hp2
HG01891.hp1
HG01978.hp2
HG02280.hp2
HG02615.hp2
HG02647.hp1
HG02738.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03491.hp1
HG06807.hp1
 intron_variant MODIFIER c.118-10492C>G
c.118-10492C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13038453
chr20:13038481 G
G
 A
A
 8 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(5): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0046g0071
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 8 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(5): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02895.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.118-10464G>A
c.118-10464G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13038481
chr20:13038558 G
G
 T
T
 42 a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
others(39): Show 
a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0014g0074
a0001c0001t0019g0053
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0005c0010t0037g0167
a0005c0011t0023g0166
 42 HG00140.hp1
HG00735.hp2
HG00741.hp1
others(39): Show 
HG00140.hp1
HG00735.hp2
HG00741.hp1
HG01106.hp2
HG01123.hp2
HG01243.hp2
HG01258.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp2
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02451.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG06807.hp1
NA18522.hp1
NA19030.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.118-10387G>T
c.118-10387G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13038558
chr20:13038627 TTATTTCT
others(6): Show 
TTATTTCTGTTATC
 T
T
 2 a0001c0001t0001g0052
a0001c0001t0019g0053
a0001c0001t0001g0052
a0001c0001t0019g0053
 2 HG03209.hp1
HG03225.hp1
HG03209.hp1
HG03225.hp1
 intron_variant MODIFIER c.118-10311_118-1029
others(17): Show 
c.118-10311_118-10299delTGTTATCTATTTC
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13038627
chr20:13038711 T
T
 C
C
 20 a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
others(17): Show 
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0003t0011g0082
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
 20 HG00140.hp1
HG00735.hp2
HG01123.hp2
others(17): Show 
HG00140.hp1
HG00735.hp2
HG01123.hp2
HG01258.hp2
HG01884.hp2
HG01891.hp1
HG01978.hp2
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02486.hp2
HG02622.hp2
HG02647.hp1
HG02738.hp2
HG03139.hp1
HG03195.hp2
HG03491.hp1
HG06807.hp1
NA18522.hp1
NA20805.hp1
 intron_variant MODIFIER c.118-10234T>C
c.118-10234T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13038711
chr20:13038811 G
G
 T
T
 2 a0001c0001t0001g0159
a0001c0001t0019g0160
a0001c0001t0001g0159
a0001c0001t0019g0160
 2 HG01167.hp2
HG06807.hp2
HG01167.hp2
HG06807.hp2
 intron_variant MODIFIER c.118-10134G>T
c.118-10134G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13038811
chr20:13038830 G
G
 A
A
 1 a0001c0001t0051g0075
a0001c0001t0051g0075
 1 HG00323.hp1
HG00323.hp1
 intron_variant MODIFIER c.118-10115G>A
c.118-10115G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13038830
chr20:13038916 ATGT
ATGT
 A
A
 11 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
others(8): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0009g0151
 11 HG01106.hp2
HG02723.hp2
HG02809.hp1
others(8): Show 
HG01106.hp2
HG02723.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03195.hp1
HG03471.hp2
HG03516.hp2
HG03540.hp1
NA19030.hp2
 intron_variant MODIFIER c.118-10024_118-1002
others(7): Show 
c.118-10024_118-10022delGTT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13038916
chr20:13038952 A
A
 G
G
 2 a0001c0001t0001g0159
a0001c0001t0019g0160
a0001c0001t0001g0159
a0001c0001t0019g0160
 2 HG01167.hp2
HG06807.hp2
HG01167.hp2
HG06807.hp2
 intron_variant MODIFIER c.118-9993A>G
c.118-9993A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13038952
chr20:13039007 A
A
 G
G
 1 a0005c0011t0023g0166
a0005c0011t0023g0166
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.118-9938A>G
c.118-9938A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13039007
chr20:13039018 C
C
 A
A
 1 a0001c0001t0045g0163
a0001c0001t0045g0163
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.118-9927C>A
c.118-9927C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13039018
chr20:13039106 G
G
 C
C
 20 a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
others(17): Show 
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0003t0011g0082
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
 20 HG00140.hp1
HG00735.hp2
HG01123.hp2
others(17): Show 
HG00140.hp1
HG00735.hp2
HG01123.hp2
HG01258.hp2
HG01884.hp2
HG01891.hp1
HG01978.hp2
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02486.hp2
HG02622.hp2
HG02647.hp1
HG02738.hp2
HG03139.hp1
HG03195.hp2
HG03491.hp1
HG06807.hp1
NA18522.hp1
NA20805.hp1
 intron_variant MODIFIER c.118-9839G>C
c.118-9839G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13039106
chr20:13039213 G
G
 A
A
 3 a0001c0005t0001g0080
a0001c0005t0005g0081
a0001c0005t0030g0285
a0001c0005t0001g0080
a0001c0005t0005g0081
a0001c0005t0030g0285
 3 HG01891.hp1
HG02647.hp1
HG03195.hp2
HG01891.hp1
HG02647.hp1
HG03195.hp2
 intron_variant MODIFIER c.118-9732G>A
c.118-9732G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13039213
chr20:13039238 A
A
 G
G
 34 a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
others(31): Show 
a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0019g0053
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
 34 HG00140.hp1
HG00735.hp2
HG01106.hp2
others(31): Show 
HG00140.hp1
HG00735.hp2
HG01106.hp2
HG01123.hp2
HG01258.hp2
HG01884.hp2
HG01891.hp1
HG01978.hp2
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02486.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG06807.hp1
NA18522.hp1
NA19030.hp2
NA20805.hp1
 intron_variant MODIFIER c.118-9707A>G
c.118-9707A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13039238
chr20:13039256 C
C
 CTCTT
CTCTT
 34 a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
others(31): Show 
a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0019g0053
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
 34 HG00140.hp1
HG00735.hp2
HG01106.hp2
others(31): Show 
HG00140.hp1
HG00735.hp2
HG01106.hp2
HG01123.hp2
HG01258.hp2
HG01884.hp2
HG01891.hp1
HG01978.hp2
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02486.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG06807.hp1
NA18522.hp1
NA19030.hp2
NA20805.hp1
 intron_variant MODIFIER c.118-9688_118-9687i
others(6): Show 
c.118-9688_118-9687insCTTT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13039256
chr20:13039276 T
T
 C
C
 6 a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0003t0010g0271
others(3): Show 
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0012g0245
a0001c0005t0004g0244
 6 HG01069.hp1
HG01071.hp1
HG02258.hp2
others(3): Show 
HG01069.hp1
HG01071.hp1
HG02258.hp2
HG03041.hp1
HG04115.hp2
NA19240.hp2
 intron_variant MODIFIER c.118-9669T>C
c.118-9669T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13039276
chr20:13039378 C
C
 T
T
 8 a0001c0001t0004g0229
a0001c0001t0004g0291
a0001c0001t0007g0230
others(5): Show 
a0001c0001t0004g0229
a0001c0001t0004g0291
a0001c0001t0007g0230
a0001c0001t0012g0259
a0001c0001t0027g0268
a0001c0003t0012g0258
a0001c0003t0058g0257
a0001c0005t0010g0231
 8 HG02280.hp1
HG02622.hp1
HG02723.hp1
others(5): Show 
HG02280.hp1
HG02622.hp1
HG02723.hp1
HG02922.hp1
HG03041.hp2
HG03540.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.118-9567C>T
c.118-9567C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13039378
chr20:13039442 C
C
 T
T
 4 a0001c0001t0004g0288
a0001c0001t0015g0264
a0001c0001t0063g0232
others(1): Show 
a0001c0001t0004g0288
a0001c0001t0015g0264
a0001c0001t0063g0232
a0001c0003t0060g0267
 4 HG02615.hp1
HG02965.hp2
HG03471.hp1
others(1): Show 
HG02615.hp1
HG02965.hp2
HG03471.hp1
NA19043.hp2
 intron_variant MODIFIER c.118-9503C>T
c.118-9503C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13039442
chr20:13039665 A
A
 G
G
 64 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(61): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0028g0249
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0017g0105
a0001c0005t0025g0097
a0002c0002t0001g0102
a0002c0002t0016g0114
a0003c0007t0006g0010
a0004c0008t0005g0140
 64 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(61): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01515.hp1
HG01516.hp2
HG01975.hp2
HG02015.hp1
HG02080.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02602.hp1
HG03017.hp2
HG03239.hp2
HG03516.hp1
HG03654.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19066.hp1
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.118-9280A>G
c.118-9280A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13039665
chr20:13039783 T
T
 C
C
 1 a0007c0017t0013g0049
a0007c0017t0013g0049
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.118-9162T>C
c.118-9162T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13039783
chr20:13039863 A
A
 G
G
 33 a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
others(30): Show 
a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0019g0053
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
 33 HG00140.hp1
HG00735.hp2
HG01106.hp2
others(30): Show 
HG00140.hp1
HG00735.hp2
HG01106.hp2
HG01123.hp2
HG01258.hp2
HG01884.hp2
HG01891.hp1
HG01978.hp2
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG06807.hp1
NA18522.hp1
NA19030.hp2
NA20805.hp1
 intron_variant MODIFIER c.118-9082A>G
c.118-9082A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13039863
chr20:13039866 T
T
 C
C
 1 a0001c0001t0001g0159
a0001c0001t0001g0159
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.118-9079T>C
c.118-9079T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13039866
chr20:13039886 A
A
 C
C
 9 a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0001g0292
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0046g0071
a0001c0004t0065g0284
a0001c0012t0023g0165
a0005c0010t0037g0167
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02451.hp1
HG02895.hp2
HG02922.hp2
HG03139.hp2
NA20805.hp2
 intron_variant MODIFIER c.118-9059A>C
c.118-9059A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13039886
chr20:13040011 G
G
 A
A
 1 a0005c0011t0023g0166
a0005c0011t0023g0166
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.118-8934G>A
c.118-8934G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13040011
chr20:13040032 G
G
 A
A
 33 a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
others(30): Show 
a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0019g0053
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
 33 HG00140.hp1
HG00735.hp2
HG01106.hp2
others(30): Show 
HG00140.hp1
HG00735.hp2
HG01106.hp2
HG01123.hp2
HG01258.hp2
HG01884.hp2
HG01891.hp1
HG01978.hp2
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG06807.hp1
NA18522.hp1
NA19030.hp2
NA20805.hp1
 intron_variant MODIFIER c.118-8913G>A
c.118-8913G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13040032
chr20:13040046 C
C
 CGT
CGT
 93 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(90): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0173
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0004g0229
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0230
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0268
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0056g0253
a0001c0001t0061g0274
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0012g0258
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0041g0107
a0001c0003t0058g0257
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0065g0284
a0001c0005t0005g0069
a0001c0005t0010g0231
a0001c0005t0025g0097
a0002c0002t0001g0102
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0016g0114
a0002c0002t0062g0280
a0003c0007t0006g0010
a0004c0008t0005g0140
a0004c0008t0028g0276
a0006c0016t0064g0248
 93 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(90): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp2
HG01433.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01952.hp2
HG01975.hp2
HG02015.hp1
HG02056.hp2
HG02080.hp1
HG02132.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02723.hp1
HG02738.hp1
HG02922.hp1
HG02922.hp2
HG03017.hp2
HG03041.hp2
HG03239.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG06807.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18964.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18982.hp2
NA18990.hp2
NA18998.hp2
NA19001.hp1
NA19004.hp2
NA19011.hp1
NA19043.hp1
NA19057.hp2
NA19063.hp2
NA19068.hp1
NA19077.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.118-8868_118-8867d
others(4): Show 
c.118-8868_118-8867dupGT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13040046
chr20:13040046 C
C
 CGTGT
CGTGT
 4 a0001c0001t0001g0203
a0001c0001t0009g0148
a0001c0001t0053g0250
others(1): Show 
a0001c0001t0001g0203
a0001c0001t0009g0148
a0001c0001t0053g0250
a0001c0001t0057g0281
 4 HG01358.hp1
HG02015.hp2
NA19000.hp1
others(1): Show 
HG01358.hp1
HG02015.hp2
NA19000.hp1
NA20752.hp2
 intron_variant MODIFIER c.118-8870_118-8867d
others(6): Show 
c.118-8870_118-8867dupGTGT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13040046
chr20:13040046 CGT
CGT
 C
C
 29 a0001c0001t0001g0052
a0001c0001t0001g0143
a0001c0001t0003g0142
others(26): Show 
a0001c0001t0001g0052
a0001c0001t0001g0143
a0001c0001t0003g0142
a0001c0001t0004g0288
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0027g0263
a0001c0001t0030g0261
a0001c0001t0045g0163
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0063g0232
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0012g0245
a0001c0003t0012g0262
a0001c0003t0060g0267
a0001c0004t0017g0201
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0244
a0001c0005t0009g0079
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0047g0068
a0001c0014t0005g0083
 29 HG00140.hp1
HG00735.hp2
HG01069.hp1
others(26): Show 
HG00140.hp1
HG00735.hp2
HG01069.hp1
HG01071.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01978.hp2
HG02109.hp1
HG02145.hp2
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02738.hp2
HG02965.hp2
HG03041.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03491.hp1
HG03491.hp2
HG04115.hp2
NA18967.hp2
NA19000.hp2
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.118-8868_118-8867d
others(4): Show 
c.118-8868_118-8867delGT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13040046
chr20:13040046 CGTGT
CGTGT
 C
C
 51 a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
others(48): Show 
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0011
a0001c0001t0003g0072
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0014g0074
a0001c0001t0038g0189
a0001c0001t0044g0073
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0009t0005g0186
a0001c0012t0023g0165
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0035g0056
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0005c0011t0023g0166
 51 HG00280.hp2
HG00423.hp1
HG00438.hp1
others(48): Show 
HG00280.hp2
HG00423.hp1
HG00438.hp1
HG00738.hp1
HG00741.hp1
HG01106.hp1
HG01168.hp2
HG01192.hp2
HG01255.hp2
HG01258.hp1
HG01346.hp2
HG01433.hp1
HG01515.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02132.hp1
HG02155.hp1
HG02451.hp1
HG02895.hp2
HG03017.hp1
HG03139.hp2
HG03225.hp2
HG04199.hp1
NA18747.hp2
NA18943.hp2
NA18949.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18981.hp1
NA18982.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA19001.hp2
NA19010.hp1
NA19012.hp1
NA19060.hp2
NA19062.hp2
NA19066.hp2
NA19070.hp2
NA19074.hp1
NA19089.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.118-8870_118-8867d
others(6): Show 
c.118-8870_118-8867delGTGT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13040046
chr20:13040046 CGTGTGT
CGTGTGT
 C
C
 3 a0001c0001t0008g0005
a0001c0001t0046g0071
a0005c0010t0037g0167
a0001c0001t0008g0005
a0001c0001t0046g0071
a0005c0010t0037g0167
 3 HG01243.hp2
HG01884.hp1
NA19004.hp1
HG01243.hp2
HG01884.hp1
NA19004.hp1
 intron_variant MODIFIER c.118-8872_118-8867d
others(8): Show 
c.118-8872_118-8867delGTGTGT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13040046
chr20:13040046 CGTGTGTG
others(1): Show 
CGTGTGTGT
 C
C
 65 a0001c0001t0002g0003
a0001c0001t0002g0015
a0001c0001t0002g0021
others(62): Show 
a0001c0001t0002g0003
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0013g0060
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0003t0005g0172
a0001c0003t0006g0040
a0001c0003t0032g0022
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0036g0061
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0006g0033
a0007c0017t0013g0049
a0008c0015t0002g0050
 65 HG00423.hp2
HG00621.hp1
HG00642.hp2
others(62): Show 
HG00423.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02135.hp2
HG02258.hp1
HG02293.hp2
HG02451.hp2
HG02895.hp1
HG02897.hp2
HG03130.hp1
HG03239.hp1
HG03669.hp2
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18944.hp1
NA18946.hp1
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18977.hp1
NA18981.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19068.hp2
NA19070.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.118-8874_118-8867d
others(10): Show 
c.118-8874_118-8867delGTGTGTGT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13040046
chr20:13040079 A
A
 G
G
 1 a0001c0001t0059g0290
a0001c0001t0059g0290
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.118-8866A>G
c.118-8866A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13040079
chr20:13040087 A
A
 T
T
 19 a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
others(16): Show 
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
 19 HG00140.hp1
HG00735.hp2
HG01123.hp2
others(16): Show 
HG00140.hp1
HG00735.hp2
HG01123.hp2
HG01258.hp2
HG01884.hp2
HG01891.hp1
HG01978.hp2
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02622.hp2
HG02647.hp1
HG02738.hp2
HG03139.hp1
HG03195.hp2
HG03491.hp1
HG06807.hp1
NA18522.hp1
NA20805.hp1
 intron_variant MODIFIER c.118-8858A>T
c.118-8858A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13040087
chr20:13040123 T
T
 C
C
 1 a0001c0001t0059g0290
a0001c0001t0059g0290
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.118-8822T>C
c.118-8822T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13040123
chr20:13040141 A
A
 G
G
 1 a0002c0002t0003g0200
a0002c0002t0003g0200
 1 NA18981.hp1
NA18981.hp1
 intron_variant MODIFIER c.118-8804A>G
c.118-8804A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13040141
chr20:13040365 T
T
 C
C
 1 a0001c0004t0065g0284
a0001c0004t0065g0284
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.118-8580T>C
c.118-8580T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13040365
chr20:13040367 C
C
 CT
CT
 7 a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
others(4): Show 
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0046g0071
a0001c0004t0065g0284
a0001c0012t0023g0165
a0005c0011t0023g0166
 7 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(4): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG02451.hp1
HG02895.hp2
HG02922.hp2
NA20805.hp2
 intron_variant MODIFIER c.118-8566dupT
c.118-8566dupT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13040367
chr20:13040428 G
G
 A
A
 3 a0001c0001t0001g0159
a0001c0001t0019g0160
a0001c0003t0010g0236
a0001c0001t0001g0159
a0001c0001t0019g0160
a0001c0003t0010g0236
 3 HG01167.hp2
HG06807.hp2
NA21309.hp2
HG01167.hp2
HG06807.hp2
NA21309.hp2
 intron_variant MODIFIER c.118-8517G>A
c.118-8517G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13040428
chr20:13040472 C
C
 A
A
 1 a0001c0001t0007g0240
a0001c0001t0007g0240
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.118-8473C>A
c.118-8473C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13040472
chr20:13040525 A
A
 G
G
 1 a0001c0004t0065g0284
a0001c0004t0065g0284
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.118-8420A>G
c.118-8420A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13040525
chr20:13040682 C
C
 CT
CT
 9 a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0021g0064
others(6): Show 
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0021g0064
a0001c0001t0044g0073
a0001c0001t0046g0071
a0001c0004t0065g0284
a0001c0005t0010g0231
a0001c0012t0023g0165
a0005c0011t0023g0166
 9 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(6): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
HG02258.hp1
HG02451.hp1
HG02622.hp1
HG02895.hp2
HG02922.hp2
NA20805.hp2
 intron_variant MODIFIER c.118-8251dupT
c.118-8251dupT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13040682
chr20:13040682 C
C
 T
T
 2 a0001c0001t0001g0292
a0005c0010t0037g0167
a0001c0001t0001g0292
a0005c0010t0037g0167
 2 HG01884.hp1
HG03139.hp2
HG01884.hp1
HG03139.hp2
 intron_variant MODIFIER c.118-8263C>T
c.118-8263C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13040682
chr20:13040692 T
T
 C
C
 17 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
others(14): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0009g0151
a0001c0009t0011g0161
 17 HG01106.hp2
HG01884.hp2
HG02055.hp1
others(14): Show 
HG01106.hp2
HG01884.hp2
HG02055.hp1
HG02109.hp2
HG02622.hp2
HG02723.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03195.hp1
HG03471.hp2
HG03516.hp2
HG03540.hp1
NA18522.hp1
NA19030.hp2
NA20805.hp1
 intron_variant MODIFIER c.118-8253T>C
c.118-8253T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13040692
chr20:13040813 G
G
 A
A
 33 a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
others(30): Show 
a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0019g0053
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
 33 HG00140.hp1
HG00735.hp2
HG01106.hp2
others(30): Show 
HG00140.hp1
HG00735.hp2
HG01106.hp2
HG01123.hp2
HG01258.hp2
HG01884.hp2
HG01891.hp1
HG01978.hp2
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG06807.hp1
NA18522.hp1
NA19030.hp2
NA20805.hp1
 intron_variant MODIFIER c.118-8132G>A
c.118-8132G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13040813
chr20:13040842 G
G
 C
C
 1 a0001c0001t0001g0141
a0001c0001t0001g0141
 1 HG00140.hp2
HG00140.hp2
 intron_variant MODIFIER c.118-8103G>C
c.118-8103G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13040842
chr20:13041272 TA
TA
 T
T
 3 a0001c0001t0001g0052
a0001c0001t0019g0053
a0001c0005t0047g0068
a0001c0001t0001g0052
a0001c0001t0019g0053
a0001c0005t0047g0068
 3 HG02615.hp2
HG03209.hp1
HG03225.hp1
HG02615.hp2
HG03209.hp1
HG03225.hp1
 intron_variant MODIFIER c.118-7672delA
c.118-7672delA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13041272
chr20:13041273 A
A
 T
T
 30 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
others(27): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
 30 HG00140.hp1
HG00735.hp2
HG01106.hp2
others(27): Show 
HG00140.hp1
HG00735.hp2
HG01106.hp2
HG01123.hp2
HG01258.hp2
HG01884.hp2
HG01891.hp1
HG01978.hp2
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02622.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03471.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG06807.hp1
NA18522.hp1
NA19030.hp2
NA20805.hp1
 intron_variant MODIFIER c.118-7672A>T
c.118-7672A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13041273
chr20:13041318 C
C
 T
T
 33 a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
others(30): Show 
a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0019g0053
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
 33 HG00140.hp1
HG00735.hp2
HG01106.hp2
others(30): Show 
HG00140.hp1
HG00735.hp2
HG01106.hp2
HG01123.hp2
HG01258.hp2
HG01884.hp2
HG01891.hp1
HG01978.hp2
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG06807.hp1
NA18522.hp1
NA19030.hp2
NA20805.hp1
 intron_variant MODIFIER c.118-7627C>T
c.118-7627C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13041318
chr20:13041349 A
A
 G
G
 33 a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
others(30): Show 
a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0019g0053
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
 33 HG00140.hp1
HG00735.hp2
HG01106.hp2
others(30): Show 
HG00140.hp1
HG00735.hp2
HG01106.hp2
HG01123.hp2
HG01258.hp2
HG01884.hp2
HG01891.hp1
HG01978.hp2
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG06807.hp1
NA18522.hp1
NA19030.hp2
NA20805.hp1
 intron_variant MODIFIER c.118-7596A>G
c.118-7596A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13041349
chr20:13041651 T
T
 C
C
 3 a0001c0001t0012g0259
a0001c0003t0012g0258
a0001c0003t0058g0257
a0001c0001t0012g0259
a0001c0003t0012g0258
a0001c0003t0058g0257
 3 HG02280.hp1
HG03540.hp2
NA19043.hp1
HG02280.hp1
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.118-7294T>C
c.118-7294T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13041651
chr20:13041741 C
C
 G
G
 1 a0001c0004t0065g0284
a0001c0004t0065g0284
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.118-7204C>G
c.118-7204C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13041741
chr20:13041799 A
A
 G
G
 63 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(60): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0028g0249
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0017g0105
a0001c0005t0025g0097
a0002c0002t0001g0102
a0002c0002t0016g0114
a0003c0007t0006g0010
a0004c0008t0005g0140
 63 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(60): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01515.hp1
HG01516.hp2
HG01975.hp2
HG02015.hp1
HG02080.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02602.hp1
HG03017.hp2
HG03239.hp2
HG03516.hp1
HG03654.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19004.hp2
NA19011.hp1
NA19066.hp1
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.118-7146A>G
c.118-7146A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13041799
chr20:13041848 A
A
 G
G
 114 a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
others(111): Show 
a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0008g0005
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0003t0005g0172
a0001c0003t0006g0040
a0001c0003t0010g0236
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0032g0022
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0006g0033
a0005c0010t0037g0167
a0005c0011t0023g0166
a0007c0017t0013g0049
a0008c0015t0002g0050
 114 HG00140.hp1
HG00423.hp2
HG00621.hp1
others(111): Show 
HG00140.hp1
HG00423.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01168.hp2
HG01243.hp2
HG01258.hp2
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02109.hp2
HG02135.hp2
HG02155.hp1
HG02258.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp2
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18977.hp1
NA18981.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA19004.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp2
NA19057.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19068.hp2
NA19070.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.118-7097A>G
c.118-7097A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13041848
chr20:13041920 T
T
 C
C
 1 a0001c0001t0002g0057
a0001c0001t0002g0057
 1 NA18946.hp1
NA18946.hp1
 intron_variant MODIFIER c.118-7025T>C
c.118-7025T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13041920
chr20:13042054 A
A
 G
G
 34 a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
others(31): Show 
a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0019g0053
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
 34 HG00140.hp1
HG00735.hp2
HG01106.hp2
others(31): Show 
HG00140.hp1
HG00735.hp2
HG01106.hp2
HG01123.hp2
HG01258.hp2
HG01884.hp2
HG01891.hp1
HG01978.hp2
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG06807.hp1
NA18522.hp1
NA19030.hp2
NA20805.hp1
 intron_variant MODIFIER c.118-6891A>G
c.118-6891A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13042054
chr20:13042144 A
A
 G
G
 35 a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
others(32): Show 
a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0019g0053
a0001c0001t0059g0290
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
 35 HG00140.hp1
HG00735.hp2
HG01106.hp2
others(32): Show 
HG00140.hp1
HG00735.hp2
HG01106.hp2
HG01123.hp2
HG01258.hp2
HG01884.hp2
HG01891.hp1
HG01978.hp2
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG06807.hp1
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA20805.hp1
 intron_variant MODIFIER c.118-6801A>G
c.118-6801A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13042144
chr20:13042194 G
G
 A
A
 1 a0001c0001t0007g0269
a0001c0001t0007g0269
 1 NA18970.hp2
NA18970.hp2
 intron_variant MODIFIER c.118-6751G>A
c.118-6751G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13042194
chr20:13042264 G
G
 C
C
 4 a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
others(1): Show 
a0001c0001t0003g0072
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0046g0071
 4 HG00741.hp1
HG01243.hp2
HG01515.hp2
others(1): Show 
HG00741.hp1
HG01243.hp2
HG01515.hp2
NA20805.hp2
 intron_variant MODIFIER c.118-6681G>C
c.118-6681G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13042264
chr20:13042432 A
A
 G
G
 1 a0003c0007t0006g0020
a0003c0007t0006g0020
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.118-6513A>G
c.118-6513A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13042432
chr20:13042526 C
C
 G
G
 31 a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
others(28): Show 
a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0003g0157
a0001c0001t0007g0228
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0014t0005g0083
a0002c0002t0001g0199
a0005c0010t0037g0167
 31 HG00140.hp1
HG00735.hp2
HG01106.hp2
others(28): Show 
HG00140.hp1
HG00735.hp2
HG01106.hp2
HG01123.hp2
HG01255.hp2
HG01258.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp2
HG02622.hp1
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp1
HG02897.hp1
HG02965.hp1
HG03041.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG06807.hp2
NA19030.hp2
 intron_variant MODIFIER c.118-6419C>G
c.118-6419C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13042526
chr20:13042740 C
C
 T
T
 237 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(234): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0229
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 237 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(234): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.118-6205C>T
c.118-6205C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13042740
chr20:13042921 A
A
 G
G
 1 a0001c0001t0018g0104
a0001c0001t0018g0104
 1 HG00323.hp2
HG00323.hp2
 intron_variant MODIFIER c.118-6024A>G
c.118-6024A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13042921
chr20:13042937 T
T
 C
C
 11 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
others(8): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0009t0011g0161
 11 HG01884.hp2
HG02055.hp1
HG02109.hp2
others(8): Show 
HG01884.hp2
HG02055.hp1
HG02109.hp2
HG02622.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03516.hp2
NA18522.hp1
NA20805.hp1
 intron_variant MODIFIER c.118-6008T>C
c.118-6008T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13042937
chr20:13043028 C
C
 G
G
 3 a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
 3 HG02809.hp1
HG02896.hp2
HG03130.hp2
HG02809.hp1
HG02896.hp2
HG03130.hp2
 intron_variant MODIFIER c.118-5917C>G
c.118-5917C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13043028
chr20:13043058 G
G
 C
C
 9 a0001c0001t0001g0052
a0001c0001t0019g0053
a0001c0003t0010g0236
others(6): Show 
a0001c0001t0001g0052
a0001c0001t0019g0053
a0001c0003t0010g0236
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0047g0068
 9 HG01106.hp2
HG02615.hp2
HG03195.hp1
others(6): Show 
HG01106.hp2
HG02615.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03540.hp1
NA19030.hp2
NA21309.hp2
 intron_variant MODIFIER c.118-5887G>C
c.118-5887G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13043058
chr20:13043067 C
C
 T
T
 167 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(164): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0159
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0192
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0017g0105
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0007c0017t0013g0049
 167 HG00140.hp1
HG00140.hp2
HG00323.hp2
others(164): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03491.hp1
HG03540.hp2
HG03654.hp1
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp2
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19077.hp1
NA19086.hp1
NA19089.hp1
NA19091.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.118-5878C>T
c.118-5878C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13043067
chr20:13043125 G
G
 A
A
 2 a0005c0010t0037g0167
a0005c0011t0023g0166
a0005c0010t0037g0167
a0005c0011t0023g0166
 2 HG01884.hp1
HG02451.hp1
HG01884.hp1
HG02451.hp1
 intron_variant MODIFIER c.118-5820G>A
c.118-5820G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13043125
chr20:13043135 G
G
 A
A
 1 a0001c0003t0032g0022
a0001c0003t0032g0022
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.118-5810G>A
c.118-5810G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13043135
chr20:13043227 T
T
 G
G
 41 a0001c0001t0001g0110
a0001c0001t0003g0112
a0001c0001t0009g0111
others(38): Show 
a0001c0001t0001g0110
a0001c0001t0003g0112
a0001c0001t0009g0111
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0020g0138
a0001c0001t0051g0075
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0009t0005g0186
a0001c0009t0005g0204
a0002c0002t0002g0009
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0034g0024
a0002c0006t0006g0023
a0002c0006t0006g0028
a0003c0007t0006g0010
 41 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(38): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00639.hp1
HG00673.hp1
HG00738.hp1
HG01106.hp1
HG01109.hp1
HG01258.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02922.hp2
HG03017.hp1
HG03017.hp2
HG03491.hp2
HG03516.hp1
HG03669.hp2
HG04199.hp1
NA18948.hp1
NA18957.hp1
NA18961.hp1
NA18982.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp2
NA18998.hp1
NA19010.hp2
NA19011.hp2
NA19057.hp2
NA19060.hp2
NA19062.hp1
NA19070.hp2
NA19074.hp1
NA19089.hp1
NA20129.hp2
 intron_variant MODIFIER c.118-5718T>G
c.118-5718T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13043227
chr20:13043297 G
G
 A
A
 1 a0001c0001t0004g0273
a0001c0001t0004g0273
 1 NA18954.hp1
NA18954.hp1
 intron_variant MODIFIER c.118-5648G>A
c.118-5648G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13043297
chr20:13043464 C
C
 A
A
 183 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(180): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0192
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0238
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0017g0105
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0005c0011t0023g0166
a0007c0017t0013g0049
 183 HG00140.hp1
HG00140.hp2
HG00323.hp2
others(180): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp2
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19086.hp1
NA19089.hp1
NA19091.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.118-5481C>A
c.118-5481C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13043464
chr20:13043482 T
T
 C
C
 31 a0001c0001t0001g0110
a0001c0001t0003g0112
a0001c0001t0009g0111
others(28): Show 
a0001c0001t0001g0110
a0001c0001t0003g0112
a0001c0001t0009g0111
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0020g0138
a0001c0001t0051g0075
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0009t0005g0186
a0001c0009t0005g0204
a0003c0007t0006g0010
a0005c0010t0037g0167
 31 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(28): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00639.hp1
HG00738.hp1
HG01106.hp1
HG01109.hp1
HG01258.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01884.hp1
HG02071.hp1
HG02922.hp2
HG03017.hp1
HG03017.hp2
HG03491.hp2
HG03516.hp1
HG03669.hp2
HG04199.hp1
NA18948.hp1
NA18957.hp1
NA18982.hp1
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA19060.hp2
NA19070.hp2
NA19074.hp1
NA20129.hp2
 intron_variant MODIFIER c.118-5463T>C
c.118-5463T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13043482
chr20:13043615 C
C
 A
A
 42 a0001c0001t0001g0110
a0001c0001t0001g0149
a0001c0001t0001g0150
others(39): Show 
a0001c0001t0001g0110
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0112
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0009g0111
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0020g0138
a0001c0001t0051g0075
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0003c0007t0006g0010
a0005c0010t0037g0167
 42 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(39): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00639.hp1
HG00738.hp1
HG01106.hp1
HG01109.hp1
HG01258.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp2
HG02622.hp2
HG02809.hp1
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03130.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03669.hp2
HG04199.hp1
NA18522.hp1
NA18948.hp1
NA18957.hp1
NA18982.hp1
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA19060.hp2
NA19070.hp2
NA19074.hp1
NA20129.hp2
NA20805.hp1
 intron_variant MODIFIER c.118-5330C>A
c.118-5330C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13043615
chr20:13043678 A
A
 C
C
 31 a0001c0001t0001g0110
a0001c0001t0003g0112
a0001c0001t0009g0111
others(28): Show 
a0001c0001t0001g0110
a0001c0001t0003g0112
a0001c0001t0009g0111
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0020g0138
a0001c0001t0051g0075
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0009t0005g0186
a0001c0009t0005g0204
a0003c0007t0006g0010
a0005c0010t0037g0167
 31 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(28): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00639.hp1
HG00738.hp1
HG01106.hp1
HG01109.hp1
HG01258.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01884.hp1
HG02071.hp1
HG02922.hp2
HG03017.hp1
HG03017.hp2
HG03491.hp2
HG03516.hp1
HG03669.hp2
HG04199.hp1
NA18948.hp1
NA18957.hp1
NA18982.hp1
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA19060.hp2
NA19070.hp2
NA19074.hp1
NA20129.hp2
 intron_variant MODIFIER c.118-5267A>C
c.118-5267A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13043678
chr20:13043738 A
A
 G
G
 31 a0001c0001t0001g0110
a0001c0001t0003g0112
a0001c0001t0009g0111
others(28): Show 
a0001c0001t0001g0110
a0001c0001t0003g0112
a0001c0001t0009g0111
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0020g0138
a0001c0001t0051g0075
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0009t0005g0186
a0001c0009t0005g0204
a0003c0007t0006g0010
a0005c0010t0037g0167
 31 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(28): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00639.hp1
HG00738.hp1
HG01106.hp1
HG01109.hp1
HG01258.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01884.hp1
HG02071.hp1
HG02922.hp2
HG03017.hp1
HG03017.hp2
HG03491.hp2
HG03516.hp1
HG03669.hp2
HG04199.hp1
NA18948.hp1
NA18957.hp1
NA18982.hp1
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA19060.hp2
NA19070.hp2
NA19074.hp1
NA20129.hp2
 intron_variant MODIFIER c.118-5207A>G
c.118-5207A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13043738
chr20:13043789 C
C
 T
T
 12 a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
others(9): Show 
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0005g0069
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0048g0164
a0001c0014t0005g0083
 12 HG00140.hp1
HG00735.hp2
HG01123.hp2
others(9): Show 
HG00140.hp1
HG00735.hp2
HG01123.hp2
HG01258.hp2
HG01978.hp2
HG02723.hp2
HG02738.hp2
HG02896.hp1
HG02897.hp1
HG03139.hp1
HG03491.hp1
HG06807.hp1
 intron_variant MODIFIER c.118-5156C>T
c.118-5156C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13043789
chr20:13044095 CT
CT
 C
C
 4 a0001c0005t0001g0080
a0001c0005t0004g0244
a0001c0005t0005g0081
others(1): Show 
a0001c0005t0001g0080
a0001c0005t0004g0244
a0001c0005t0005g0081
a0001c0005t0030g0285
 4 HG01891.hp1
HG02647.hp1
HG03041.hp1
others(1): Show 
HG01891.hp1
HG02647.hp1
HG03041.hp1
HG03195.hp2
 intron_variant MODIFIER c.118-4842delT
c.118-4842delT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13044095
chr20:13044103 TC
TC
 T
T
 23 a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0004t0001g0169
others(20): Show 
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0016g0091
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0009t0005g0186
a0001c0009t0005g0204
a0005c0010t0037g0167
 23 HG00639.hp1
HG00738.hp1
HG01106.hp1
others(20): Show 
HG00639.hp1
HG00738.hp1
HG01106.hp1
HG01109.hp1
HG01258.hp1
HG01346.hp2
HG01433.hp1
HG01884.hp1
HG02071.hp1
HG02922.hp2
HG03017.hp1
HG03491.hp2
HG03516.hp1
HG04199.hp1
NA18948.hp1
NA18957.hp1
NA18982.hp1
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA19060.hp2
NA19070.hp2
NA19074.hp1
 intron_variant MODIFIER c.118-4841delC
c.118-4841delC
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13044103
chr20:13044104 C
C
 T
T
 8 a0001c0001t0001g0110
a0001c0001t0003g0112
a0001c0001t0009g0111
others(5): Show 
a0001c0001t0001g0110
a0001c0001t0003g0112
a0001c0001t0009g0111
a0001c0001t0013g0060
a0001c0001t0020g0138
a0001c0001t0051g0075
a0001c0004t0014g0137
a0003c0007t0006g0010
 8 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(5): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG01358.hp2
HG01496.hp1
HG03017.hp2
HG03669.hp2
NA20129.hp2
 intron_variant MODIFIER c.118-4841C>T
c.118-4841C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13044104
chr20:13044104 CT
CT
 C
C
 82 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(79): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0179
a0001c0001t0004g0229
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0017g0105
a0001c0005t0010g0231
a0001c0005t0025g0097
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0016g0114
a0004c0008t0005g0140
 82 HG00140.hp2
HG00323.hp2
HG00408.hp1
others(79): Show 
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01515.hp1
HG01516.hp2
HG01975.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.118-4828delT
c.118-4828delT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13044104
chr20:13044105 T
T
 C
C
 8 a0001c0001t0001g0110
a0001c0001t0003g0112
a0001c0001t0009g0111
others(5): Show 
a0001c0001t0001g0110
a0001c0001t0003g0112
a0001c0001t0009g0111
a0001c0001t0013g0060
a0001c0001t0020g0138
a0001c0001t0051g0075
a0001c0004t0014g0137
a0003c0007t0006g0010
 8 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(5): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG01358.hp2
HG01496.hp1
HG03017.hp2
HG03669.hp2
NA20129.hp2
 intron_variant MODIFIER c.118-4840T>C
c.118-4840T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13044105
chr20:13044106 T
T
 C
C
 23 a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0004t0001g0169
others(20): Show 
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0016g0091
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0009t0005g0186
a0001c0009t0005g0204
a0005c0010t0037g0167
 23 HG00639.hp1
HG00738.hp1
HG01106.hp1
others(20): Show 
HG00639.hp1
HG00738.hp1
HG01106.hp1
HG01109.hp1
HG01258.hp1
HG01346.hp2
HG01433.hp1
HG01884.hp1
HG02071.hp1
HG02922.hp2
HG03017.hp1
HG03491.hp2
HG03516.hp1
HG04199.hp1
NA18948.hp1
NA18957.hp1
NA18982.hp1
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA19060.hp2
NA19070.hp2
NA19074.hp1
 intron_variant MODIFIER c.118-4839T>C
c.118-4839T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13044106
chr20:13044130 TG
TG
 T
T
 31 a0001c0001t0001g0110
a0001c0001t0003g0112
a0001c0001t0009g0111
others(28): Show 
a0001c0001t0001g0110
a0001c0001t0003g0112
a0001c0001t0009g0111
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0020g0138
a0001c0001t0051g0075
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0009t0005g0186
a0001c0009t0005g0204
a0003c0007t0006g0010
a0005c0010t0037g0167
 31 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(28): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00639.hp1
HG00738.hp1
HG01106.hp1
HG01109.hp1
HG01258.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01884.hp1
HG02071.hp1
HG02922.hp2
HG03017.hp1
HG03017.hp2
HG03491.hp2
HG03516.hp1
HG03669.hp2
HG04199.hp1
NA18948.hp1
NA18957.hp1
NA18982.hp1
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA19060.hp2
NA19070.hp2
NA19074.hp1
NA20129.hp2
 intron_variant MODIFIER c.118-4814delG
c.118-4814delG
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13044130
chr20:13044139 A
A
 G
G
 42 a0001c0001t0001g0110
a0001c0001t0001g0149
a0001c0001t0001g0150
others(39): Show 
a0001c0001t0001g0110
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0112
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0009g0111
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0020g0138
a0001c0001t0051g0075
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0003c0007t0006g0010
a0005c0010t0037g0167
 42 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(39): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00639.hp1
HG00738.hp1
HG01106.hp1
HG01109.hp1
HG01258.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp2
HG02622.hp2
HG02809.hp1
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03130.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03669.hp2
HG04199.hp1
NA18522.hp1
NA18948.hp1
NA18957.hp1
NA18982.hp1
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA19060.hp2
NA19070.hp2
NA19074.hp1
NA20129.hp2
NA20805.hp1
 intron_variant MODIFIER c.118-4806A>G
c.118-4806A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13044139
chr20:13044191 C
C
 T
T
 1 a0001c0001t0001g0188
a0001c0001t0001g0188
 1 HG02074.hp2
HG02074.hp2
 intron_variant MODIFIER c.118-4754C>T
c.118-4754C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13044191
chr20:13044192 T
T
 C
C
 31 a0001c0001t0001g0110
a0001c0001t0003g0112
a0001c0001t0009g0111
others(28): Show 
a0001c0001t0001g0110
a0001c0001t0003g0112
a0001c0001t0009g0111
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0020g0138
a0001c0001t0051g0075
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0009t0005g0186
a0001c0009t0005g0204
a0003c0007t0006g0010
a0005c0010t0037g0167
 31 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(28): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00639.hp1
HG00738.hp1
HG01106.hp1
HG01109.hp1
HG01258.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01884.hp1
HG02071.hp1
HG02922.hp2
HG03017.hp1
HG03017.hp2
HG03491.hp2
HG03516.hp1
HG03669.hp2
HG04199.hp1
NA18948.hp1
NA18957.hp1
NA18982.hp1
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA19060.hp2
NA19070.hp2
NA19074.hp1
NA20129.hp2
 intron_variant MODIFIER c.118-4753T>C
c.118-4753T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13044192
chr20:13044348 C
C
 A
A
 6 a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
others(3): Show 
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0009t0011g0161
 6 HG01884.hp2
HG02055.hp1
HG02109.hp2
others(3): Show 
HG01884.hp2
HG02055.hp1
HG02109.hp2
HG02622.hp2
NA18522.hp1
NA20805.hp1
 intron_variant MODIFIER c.118-4597C>A
c.118-4597C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13044348
chr20:13044493 G
G
 C
C
 31 a0001c0001t0001g0110
a0001c0001t0003g0112
a0001c0001t0009g0111
others(28): Show 
a0001c0001t0001g0110
a0001c0001t0003g0112
a0001c0001t0009g0111
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0020g0138
a0001c0001t0051g0075
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0009t0005g0186
a0001c0009t0005g0204
a0003c0007t0006g0010
a0005c0010t0037g0167
 31 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(28): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00639.hp1
HG00738.hp1
HG01106.hp1
HG01109.hp1
HG01258.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01884.hp1
HG02071.hp1
HG02922.hp2
HG03017.hp1
HG03017.hp2
HG03491.hp2
HG03516.hp1
HG03669.hp2
HG04199.hp1
NA18948.hp1
NA18957.hp1
NA18982.hp1
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA19060.hp2
NA19070.hp2
NA19074.hp1
NA20129.hp2
 intron_variant MODIFIER c.118-4452G>C
c.118-4452G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13044493
chr20:13044505 A
A
 T
T
 1 a0001c0004t0001g0169
a0001c0004t0001g0169
 1 NA18985.hp2
NA18985.hp2
 intron_variant MODIFIER c.118-4440A>T
c.118-4440A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13044505
chr20:13044506 T
T
 C
C
 1 a0001c0004t0001g0169
a0001c0004t0001g0169
 1 NA18985.hp2
NA18985.hp2
 intron_variant MODIFIER c.118-4439T>C
c.118-4439T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13044506
chr20:13044751 G
G
 A
A
 1 a0001c0005t0010g0231
a0001c0005t0010g0231
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.118-4194G>A
c.118-4194G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13044751
chr20:13044793 A
A
 C
C
 1 a0001c0009t0005g0186
a0001c0009t0005g0186
 1 NA19060.hp2
NA19060.hp2
 intron_variant MODIFIER c.118-4152A>C
c.118-4152A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13044793
chr20:13044831 G
G
 C
C
 1 a0001c0005t0047g0068
a0001c0005t0047g0068
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.118-4114G>C
c.118-4114G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13044831
chr20:13044912 C
C
 T
T
 79 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(76): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0017g0105
a0001c0005t0010g0231
a0001c0005t0025g0097
a0002c0002t0002g0008
a0002c0002t0016g0114
a0004c0008t0005g0140
 79 HG00140.hp2
HG00323.hp2
HG00408.hp1
others(76): Show 
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01515.hp1
HG01516.hp2
HG01975.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.118-4033C>T
c.118-4033C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13044912
chr20:13044995 C
C
 CCA
CCA
 14 a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
others(11): Show 
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0003g0072
a0001c0001t0004g0219
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0014g0074
a0001c0001t0019g0160
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0056g0253
a0001c0003t0012g0217
a0001c0005t0047g0068
 14 HG00438.hp1
HG00741.hp1
HG01167.hp2
others(11): Show 
HG00438.hp1
HG00741.hp1
HG01167.hp2
HG01243.hp2
HG01515.hp2
HG02559.hp2
HG02615.hp2
HG02809.hp2
HG03209.hp2
HG03225.hp2
NA18956.hp1
NA18973.hp2
NA19063.hp2
NA19240.hp1
 intron_variant MODIFIER c.118-3910_118-3909d
others(4): Show 
c.118-3910_118-3909dupAC
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13044995
chr20:13044995 CCA
CCA
 C
C
 14 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
others(11): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0003t0005g0168
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0289
a0001c0009t0011g0161
 14 HG01069.hp1
HG01071.hp1
HG01884.hp2
others(11): Show 
HG01069.hp1
HG01071.hp1
HG01884.hp2
HG02055.hp1
HG02056.hp1
HG02109.hp2
HG02622.hp2
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03516.hp2
NA18522.hp1
NA18959.hp1
NA20805.hp1
 intron_variant MODIFIER c.118-3910_118-3909d
others(4): Show 
c.118-3910_118-3909delAC
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13044995
chr20:13044995 CCACA
CCACA
 C
C
 22 a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0019g0053
others(19): Show 
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0019g0053
a0001c0001t0055g0287
a0001c0003t0010g0236
a0001c0003t0010g0277
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0014t0005g0083
 22 HG00140.hp1
HG00735.hp2
HG01123.hp2
others(19): Show 
HG00140.hp1
HG00735.hp2
HG01123.hp2
HG01258.hp2
HG01516.hp1
HG01891.hp1
HG01978.hp2
HG02074.hp2
HG02132.hp1
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02896.hp1
HG02897.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03491.hp1
HG04115.hp2
HG06807.hp1
NA21309.hp2
 intron_variant MODIFIER c.118-3912_118-3909d
others(6): Show 
c.118-3912_118-3909delACAC
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13044995
chr20:13044995 CCACACA
CCACACA
 C
C
 8 a0001c0001t0001g0052
a0001c0003t0011g0152
a0001c0003t0011g0153
others(5): Show 
a0001c0001t0001g0052
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0041g0107
a0003c0007t0006g0020
 8 HG01106.hp2
HG01123.hp1
HG01496.hp2
others(5): Show 
HG01106.hp2
HG01123.hp1
HG01496.hp2
HG03195.hp1
HG03225.hp1
HG03471.hp2
HG03540.hp1
NA19030.hp2
 intron_variant MODIFIER c.118-3914_118-3909d
others(8): Show 
c.118-3914_118-3909delACACAC
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13044995
chr20:13044995 CCACACAC
others(1): Show 
CCACACACA
 C
C
 112 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(109): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0159
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0027g0263
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0010g0231
a0001c0005t0025g0097
a0001c0009t0005g0186
a0001c0009t0005g0204
a0002c0002t0002g0008
a0002c0002t0002g0046
a0002c0002t0007g0260
a0002c0002t0016g0114
a0002c0002t0035g0056
a0003c0007t0006g0010
a0003c0007t0006g0063
a0004c0008t0005g0140
a0005c0010t0037g0167
 112 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(109): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01975.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG03831.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.118-3916_118-3909d
others(10): Show 
c.118-3916_118-3909delACACACAC
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13044995
chr20:13044995 CCACACAC
others(3): Show 
CCACACACACA
 C
C
 69 a0001c0001t0003g0192
a0001c0001t0008g0034
a0001c0001t0008g0035
others(66): Show 
a0001c0001t0003g0192
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0015g0265
a0001c0001t0021g0064
a0001c0003t0005g0172
a0001c0003t0006g0040
a0001c0005t0016g0147
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0066
a0004c0008t0006g0033
a0005c0011t0023g0166
a0007c0017t0013g0049
 69 HG00423.hp1
HG00423.hp2
HG00621.hp1
others(66): Show 
HG00423.hp1
HG00423.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG01192.hp2
HG01255.hp2
HG01261.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG02015.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02895.hp1
HG02897.hp2
HG03130.hp1
HG03239.hp1
HG04115.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18945.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18956.hp2
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18977.hp1
NA18981.hp1
NA18981.hp2
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19086.hp1
NA19089.hp1
NA19091.hp1
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.118-3918_118-3909d
others(12): Show 
c.118-3918_118-3909delACACACACAC
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13044995
chr20:13044995 CCACACAC
others(5): Show 
CCACACACACACA
 C
C
 3 a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0268
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0268
 3 HG01168.hp1
HG01192.hp1
HG03041.hp2
HG01168.hp1
HG01192.hp1
HG03041.hp2
 intron_variant MODIFIER c.118-3920_118-3909d
others(14): Show 
c.118-3920_118-3909delACACACACACAC
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13044995
chr20:13045024 C
C
 A
A
 31 a0001c0001t0001g0110
a0001c0001t0003g0112
a0001c0001t0009g0111
others(28): Show 
a0001c0001t0001g0110
a0001c0001t0003g0112
a0001c0001t0009g0111
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0020g0138
a0001c0001t0051g0075
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0009t0005g0186
a0001c0009t0005g0204
a0003c0007t0006g0010
a0005c0010t0037g0167
 31 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(28): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00639.hp1
HG00738.hp1
HG01106.hp1
HG01109.hp1
HG01258.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01884.hp1
HG02071.hp1
HG02922.hp2
HG03017.hp1
HG03017.hp2
HG03491.hp2
HG03516.hp1
HG03669.hp2
HG04199.hp1
NA18948.hp1
NA18957.hp1
NA18982.hp1
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA19060.hp2
NA19070.hp2
NA19074.hp1
NA20129.hp2
 intron_variant MODIFIER c.118-3921C>A
c.118-3921C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13045024
chr20:13045036 C
C
 CA
CA
 4 a0001c0001t0004g0266
a0001c0001t0010g0215
a0001c0001t0010g0220
others(1): Show 
a0001c0001t0004g0266
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0033g0045
 4 HG02145.hp1
HG02559.hp1
HG02738.hp1
others(1): Show 
HG02145.hp1
HG02559.hp1
HG02738.hp1
NA19086.hp2
 intron_variant MODIFIER c.118-3909_118-3908i
others(3): Show 
c.118-3909_118-3908insA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13045036
chr20:13045037 C
C
 T
T
 92 a0001c0001t0001g0159
a0001c0001t0003g0192
a0001c0001t0004g0226
others(89): Show 
a0001c0001t0001g0159
a0001c0001t0003g0192
a0001c0001t0004g0226
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0015g0265
a0001c0001t0021g0064
a0001c0003t0005g0172
a0001c0003t0006g0040
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0006g0033
a0005c0011t0023g0166
a0007c0017t0013g0049
 92 HG00140.hp1
HG00423.hp1
HG00423.hp2
others(89): Show 
HG00140.hp1
HG00423.hp1
HG00423.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG01123.hp2
HG01168.hp2
HG01192.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp2
HG01496.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03239.hp1
HG03491.hp1
HG03831.hp1
HG04115.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18945.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18956.hp2
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18977.hp1
NA18981.hp1
NA18981.hp2
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19086.hp1
NA19089.hp1
NA19091.hp1
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.118-3908C>T
c.118-3908C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13045037
chr20:13045243 T
T
 G
G
 31 a0001c0001t0001g0110
a0001c0001t0003g0112
a0001c0001t0009g0111
others(28): Show 
a0001c0001t0001g0110
a0001c0001t0003g0112
a0001c0001t0009g0111
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0020g0138
a0001c0001t0051g0075
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0009t0005g0186
a0001c0009t0005g0204
a0003c0007t0006g0010
a0005c0010t0037g0167
 31 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(28): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00639.hp1
HG00738.hp1
HG01106.hp1
HG01109.hp1
HG01258.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01884.hp1
HG02071.hp1
HG02922.hp2
HG03017.hp1
HG03017.hp2
HG03491.hp2
HG03516.hp1
HG03669.hp2
HG04199.hp1
NA18948.hp1
NA18957.hp1
NA18982.hp1
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA19060.hp2
NA19070.hp2
NA19074.hp1
NA20129.hp2
 intron_variant MODIFIER c.118-3702T>G
c.118-3702T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13045243
chr20:13045544 C
C
 G
G
 1 a0001c0001t0001g0203
a0001c0001t0001g0203
 1 NA19000.hp1
NA19000.hp1
 intron_variant MODIFIER c.118-3401C>G
c.118-3401C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13045544
chr20:13045561 A
A
 G
G
 4 a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
others(1): Show 
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
 4 HG01106.hp2
HG03195.hp1
HG03471.hp2
others(1): Show 
HG01106.hp2
HG03195.hp1
HG03471.hp2
NA19030.hp2
 intron_variant MODIFIER c.118-3384A>G
c.118-3384A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13045561
chr20:13045740 C
C
 A
A
 1 a0001c0003t0032g0022
a0001c0003t0032g0022
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.118-3205C>A
c.118-3205C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13045740
chr20:13046131 T
T
 C
C
 31 a0001c0001t0001g0110
a0001c0001t0003g0112
a0001c0001t0009g0111
others(28): Show 
a0001c0001t0001g0110
a0001c0001t0003g0112
a0001c0001t0009g0111
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0020g0138
a0001c0001t0051g0075
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0009t0005g0186
a0001c0009t0005g0204
a0003c0007t0006g0010
a0005c0010t0037g0167
 31 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(28): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00639.hp1
HG00738.hp1
HG01106.hp1
HG01109.hp1
HG01258.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01884.hp1
HG02071.hp1
HG02922.hp2
HG03017.hp1
HG03017.hp2
HG03491.hp2
HG03516.hp1
HG03669.hp2
HG04199.hp1
NA18948.hp1
NA18957.hp1
NA18982.hp1
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA19060.hp2
NA19070.hp2
NA19074.hp1
NA20129.hp2
 intron_variant MODIFIER c.118-2814T>C
c.118-2814T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13046131
chr20:13046133 T
T
 C
C
 1 a0002c0006t0006g0023
a0002c0006t0006g0023
 1 NA18988.hp2
NA18988.hp2
 intron_variant MODIFIER c.118-2812T>C
c.118-2812T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13046133
chr20:13046137 G
G
 C
C
 31 a0001c0001t0001g0110
a0001c0001t0003g0112
a0001c0001t0009g0111
others(28): Show 
a0001c0001t0001g0110
a0001c0001t0003g0112
a0001c0001t0009g0111
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0020g0138
a0001c0001t0051g0075
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0009t0005g0186
a0001c0009t0005g0204
a0003c0007t0006g0010
a0005c0010t0037g0167
 31 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(28): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00639.hp1
HG00738.hp1
HG01106.hp1
HG01109.hp1
HG01258.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01884.hp1
HG02071.hp1
HG02922.hp2
HG03017.hp1
HG03017.hp2
HG03491.hp2
HG03516.hp1
HG03669.hp2
HG04199.hp1
NA18948.hp1
NA18957.hp1
NA18982.hp1
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA19060.hp2
NA19070.hp2
NA19074.hp1
NA20129.hp2
 intron_variant MODIFIER c.118-2808G>C
c.118-2808G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13046137
chr20:13046215 T
T
 G
G
 171 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(168): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0159
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0192
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0017g0105
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0005c0011t0023g0166
a0007c0017t0013g0049
 171 HG00140.hp1
HG00140.hp2
HG00323.hp2
others(168): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03491.hp1
HG03540.hp2
HG03654.hp1
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp2
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19086.hp1
NA19089.hp1
NA19091.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.118-2730T>G
c.118-2730T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13046215
chr20:13046217 G
G
 A
A
 1 a0001c0001t0015g0265
a0001c0001t0015g0265
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.118-2728G>A
c.118-2728G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13046217
chr20:13046248 G
G
 A
A
 1 a0002c0002t0008g0004
a0002c0002t0008g0004
 1 NA19060.hp1
NA19060.hp1
 intron_variant MODIFIER c.118-2697G>A
c.118-2697G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13046248
chr20:13046480 T
T
 C
C
 202 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(199): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0159
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0192
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0005c0010t0037g0167
a0005c0011t0023g0166
a0007c0017t0013g0049
 202 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(199): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG03831.hp1
HG04115.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19086.hp1
NA19089.hp1
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.118-2465T>C
c.118-2465T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13046480
chr20:13046492 C
C
 A
A
 11 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
others(8): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0009t0011g0161
 11 HG01884.hp2
HG02055.hp1
HG02109.hp2
others(8): Show 
HG01884.hp2
HG02055.hp1
HG02109.hp2
HG02622.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03516.hp2
NA18522.hp1
NA20805.hp1
 intron_variant MODIFIER c.118-2453C>A
c.118-2453C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13046492
chr20:13046520 C
C
 T
T
 1 a0002c0002t0001g0102
a0002c0002t0001g0102
 1 HG02015.hp1
HG02015.hp1
 intron_variant MODIFIER c.118-2425C>T
c.118-2425C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13046520
chr20:13046639 G
G
 A
A
 4 a0001c0001t0001g0292
a0001c0001t0004g0229
a0001c0001t0004g0291
others(1): Show 
a0001c0001t0001g0292
a0001c0001t0004g0229
a0001c0001t0004g0291
a0001c0001t0007g0230
 4 HG02723.hp1
HG02922.hp1
HG03139.hp2
others(1): Show 
HG02723.hp1
HG02922.hp1
HG03139.hp2
NA20300.hp1
 intron_variant MODIFIER c.118-2306G>A
c.118-2306G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13046639
chr20:13046809 G
G
 T
T
 79 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(76): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0017g0105
a0001c0005t0010g0231
a0001c0005t0025g0097
a0002c0002t0002g0008
a0002c0002t0016g0114
a0004c0008t0005g0140
 79 HG00140.hp2
HG00323.hp2
HG00408.hp1
others(76): Show 
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01515.hp1
HG01516.hp2
HG01975.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.118-2136G>T
c.118-2136G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13046809
chr20:13046925 C
C
 T
T
 1 a0001c0001t0004g0288
a0001c0001t0004g0288
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.118-2020C>T
c.118-2020C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13046925
chr20:13046944 C
C
 A
A
 3 a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0007g0221
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0007g0221
 3 HG02486.hp1
HG02630.hp1
HG02809.hp2
HG02486.hp1
HG02630.hp1
HG02809.hp2
 intron_variant MODIFIER c.118-2001C>A
c.118-2001C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13046944
chr20:13047094 T
T
 G
G
 290 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(287): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 290 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(287): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.118-1851T>G
c.118-1851T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13047094
chr20:13047275 G
G
 A
A
 1 a0001c0004t0003g0174
a0001c0004t0003g0174
 1 NA19074.hp1
NA19074.hp1
 intron_variant MODIFIER c.118-1670G>A
c.118-1670G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13047275
chr20:13047332 G
G
 A
A
 1 a0001c0004t0065g0284
a0001c0004t0065g0284
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.118-1613G>A
c.118-1613G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13047332
chr20:13047357 C
C
 T
T
 290 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(287): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 290 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(287): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.118-1588C>T
c.118-1588C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13047357
chr20:13047496 T
T
 G
G
 290 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(287): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 290 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(287): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.118-1449T>G
c.118-1449T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13047496
chr20:13047544 G
G
 A
A
 290 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(287): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 290 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(287): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.118-1401G>A
c.118-1401G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13047544
chr20:13047620 G
G
 A
A
 290 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(287): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 290 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(287): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.118-1325G>A
c.118-1325G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13047620
chr20:13047644 G
G
 C
C
 290 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(287): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 290 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(287): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.118-1301G>C
c.118-1301G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13047644
chr20:13047799 A
A
 G
G
 1 a0001c0005t0047g0068
a0001c0005t0047g0068
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.118-1146A>G
c.118-1146A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13047799
chr20:13047874 T
T
 C
C
 290 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(287): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 290 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(287): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.118-1071T>C
c.118-1071T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13047874
chr20:13048167 C
C
 G
G
 1 a0001c0001t0005g0128
a0001c0001t0005g0128
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.118-778C>G
c.118-778C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13048167
chr20:13048202 CA
CA
 C
C
 92 a0001c0001t0001g0159
a0001c0001t0003g0192
a0001c0001t0004g0226
others(89): Show 
a0001c0001t0001g0159
a0001c0001t0003g0192
a0001c0001t0004g0226
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0015g0265
a0001c0001t0021g0064
a0001c0003t0005g0172
a0001c0003t0006g0040
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0006g0033
a0005c0011t0023g0166
a0007c0017t0013g0049
 92 HG00140.hp1
HG00423.hp1
HG00423.hp2
others(89): Show 
HG00140.hp1
HG00423.hp1
HG00423.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG01123.hp2
HG01168.hp2
HG01192.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp2
HG01496.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03239.hp1
HG03491.hp1
HG03831.hp1
HG04115.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18945.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18956.hp2
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18977.hp1
NA18981.hp1
NA18981.hp2
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19086.hp1
NA19089.hp1
NA19091.hp1
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.118-740delA
c.118-740delA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 INFO_REALIGN_3_PRIME chr20 13048202
chr20:13048208 C
C
 T
T
 281 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(278): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 281 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(278): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.118-737C>T
c.118-737C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13048208
chr20:13048257 C
C
 G
G
 79 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(76): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0017g0105
a0001c0005t0010g0231
a0001c0005t0025g0097
a0002c0002t0002g0008
a0002c0002t0016g0114
a0004c0008t0005g0140
 79 HG00140.hp2
HG00323.hp2
HG00408.hp1
others(76): Show 
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01515.hp1
HG01516.hp2
HG01975.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.118-688C>G
c.118-688C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13048257
chr20:13048339 C
C
 T
T
 1 a0001c0003t0060g0267
a0001c0003t0060g0267
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.118-606C>T
c.118-606C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13048339
chr20:13048350 A
A
 C
C
 290 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(287): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 290 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(287): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.118-595A>C
c.118-595A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13048350
chr20:13048459 C
C
 T
T
 1 a0001c0005t0047g0068
a0001c0005t0047g0068
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.118-486C>T
c.118-486C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13048459
chr20:13048539 G
G
 T
T
 259 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(256): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0017g0105
a0001c0004t0017g0205
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 259 HG00140.hp1
HG00140.hp2
HG00323.hp2
others(256): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.118-406G>T
c.118-406G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13048539
chr20:13048591 A
A
 C
C
 3 a0001c0001t0012g0259
a0001c0003t0012g0258
a0001c0003t0058g0257
a0001c0001t0012g0259
a0001c0003t0012g0258
a0001c0003t0058g0257
 3 HG02280.hp1
HG03540.hp2
NA19043.hp1
HG02280.hp1
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.118-354A>C
c.118-354A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13048591
chr20:13048626 T
T
 C
C
 290 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(287): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 290 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(287): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.118-319T>C
c.118-319T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13048626
chr20:13048660 G
G
 T
T
 259 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(256): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0017g0105
a0001c0004t0017g0205
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 259 HG00140.hp1
HG00140.hp2
HG00323.hp2
others(256): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.118-285G>T
c.118-285G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13048660
chr20:13048669 T
T
 C
C
 1 a0001c0001t0004g0266
a0001c0001t0004g0266
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.118-276T>C
c.118-276T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13048669
chr20:13048789 A
A
 G
G
 171 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(168): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0159
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0192
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0017g0105
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0005c0011t0023g0166
a0007c0017t0013g0049
 171 HG00140.hp1
HG00140.hp2
HG00323.hp2
others(168): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03491.hp1
HG03540.hp2
HG03654.hp1
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp2
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19086.hp1
NA19089.hp1
NA19091.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.118-156A>G
c.118-156A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 1/11 chr20 13048789
chr20:13049142 C
C
 T
T
 75 a0001c0001t0001g0159
a0001c0001t0003g0192
a0001c0001t0004g0226
others(72): Show 
a0001c0001t0001g0159
a0001c0001t0003g0192
a0001c0001t0004g0226
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0015g0265
a0001c0001t0021g0064
a0001c0003t0005g0172
a0001c0003t0006g0040
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0006g0033
a0005c0011t0023g0166
a0007c0017t0013g0049
 75 HG00423.hp1
HG00423.hp2
HG00621.hp1
others(72): Show 
HG00423.hp1
HG00423.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG01168.hp2
HG01192.hp2
HG01255.hp2
HG01261.hp2
HG01496.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG02015.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02895.hp1
HG02897.hp2
HG03130.hp1
HG03239.hp1
HG03831.hp1
HG04115.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18945.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18956.hp2
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18977.hp1
NA18981.hp1
NA18981.hp2
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19086.hp1
NA19089.hp1
NA19091.hp1
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+12C>T
c.303+12C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13049142
chr20:13049214 C
C
 T
T
 290 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(287): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 290 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(287): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+84C>T
c.303+84C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13049214
chr20:13049272 C
C
 G
G
 290 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(287): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 290 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(287): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+142C>G
c.303+142C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13049272
chr20:13049277 A
A
 G
G
 1 a0002c0002t0062g0280
a0002c0002t0062g0280
 1 NA18990.hp2
NA18990.hp2
 intron_variant MODIFIER c.303+147A>G
c.303+147A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13049277
chr20:13049347 C
C
 T
T
 1 a0002c0002t0062g0280
a0002c0002t0062g0280
 1 NA18990.hp2
NA18990.hp2
 intron_variant MODIFIER c.303+217C>T
c.303+217C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13049347
chr20:13049473 C
C
 G
G
 92 a0001c0001t0001g0159
a0001c0001t0003g0192
a0001c0001t0004g0226
others(89): Show 
a0001c0001t0001g0159
a0001c0001t0003g0192
a0001c0001t0004g0226
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0015g0265
a0001c0001t0021g0064
a0001c0003t0005g0172
a0001c0003t0006g0040
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0006g0033
a0005c0011t0023g0166
a0007c0017t0013g0049
 92 HG00140.hp1
HG00423.hp1
HG00423.hp2
others(89): Show 
HG00140.hp1
HG00423.hp1
HG00423.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG01123.hp2
HG01168.hp2
HG01192.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp2
HG01496.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03239.hp1
HG03491.hp1
HG03831.hp1
HG04115.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18945.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18956.hp2
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18977.hp1
NA18981.hp1
NA18981.hp2
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19086.hp1
NA19089.hp1
NA19091.hp1
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+343C>G
c.303+343C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13049473
chr20:13049582 C
C
 G
G
 11 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
others(8): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0009t0011g0161
 11 HG01884.hp2
HG02055.hp1
HG02109.hp2
others(8): Show 
HG01884.hp2
HG02055.hp1
HG02109.hp2
HG02622.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03516.hp2
NA18522.hp1
NA20805.hp1
 intron_variant MODIFIER c.303+452C>G
c.303+452C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13049582
chr20:13049614 AT
AT
 A
A
 290 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(287): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 290 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(287): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+491delT
c.303+491delT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13049614
chr20:13049761 A
A
 G
G
 290 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(287): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 290 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(287): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+631A>G
c.303+631A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13049761
chr20:13049797 G
G
 A
A
 1 a0001c0001t0007g0216
a0001c0001t0007g0216
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.303+667G>A
c.303+667G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13049797
chr20:13049832 T
T
 C
C
 290 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(287): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 290 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(287): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+702T>C
c.303+702T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13049832
chr20:13049929 G
G
 A
A
 290 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(287): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 290 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(287): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+799G>A
c.303+799G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13049929
chr20:13050062 A
A
 G
G
 259 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(256): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0017g0105
a0001c0004t0017g0205
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 259 HG00140.hp1
HG00140.hp2
HG00323.hp2
others(256): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+932A>G
c.303+932A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13050062
chr20:13050096 T
T
 C
C
 31 a0001c0001t0001g0110
a0001c0001t0003g0112
a0001c0001t0009g0111
others(28): Show 
a0001c0001t0001g0110
a0001c0001t0003g0112
a0001c0001t0009g0111
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0020g0138
a0001c0001t0051g0075
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0009t0005g0186
a0001c0009t0005g0204
a0003c0007t0006g0010
a0005c0010t0037g0167
 31 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(28): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00639.hp1
HG00738.hp1
HG01106.hp1
HG01109.hp1
HG01258.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01884.hp1
HG02071.hp1
HG02922.hp2
HG03017.hp1
HG03017.hp2
HG03491.hp2
HG03516.hp1
HG03669.hp2
HG04199.hp1
NA18948.hp1
NA18957.hp1
NA18982.hp1
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA19060.hp2
NA19070.hp2
NA19074.hp1
NA20129.hp2
 intron_variant MODIFIER c.303+966T>C
c.303+966T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13050096
chr20:13050215 G
G
 C
C
 31 a0001c0001t0001g0110
a0001c0001t0003g0112
a0001c0001t0009g0111
others(28): Show 
a0001c0001t0001g0110
a0001c0001t0003g0112
a0001c0001t0009g0111
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0020g0138
a0001c0001t0051g0075
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0009t0005g0186
a0001c0009t0005g0204
a0003c0007t0006g0010
a0005c0010t0037g0167
 31 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(28): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00639.hp1
HG00738.hp1
HG01106.hp1
HG01109.hp1
HG01258.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01884.hp1
HG02071.hp1
HG02922.hp2
HG03017.hp1
HG03017.hp2
HG03491.hp2
HG03516.hp1
HG03669.hp2
HG04199.hp1
NA18948.hp1
NA18957.hp1
NA18982.hp1
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA19060.hp2
NA19070.hp2
NA19074.hp1
NA20129.hp2
 intron_variant MODIFIER c.303+1085G>C
c.303+1085G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13050215
chr20:13050392 A
A
 T
T
 77 a0001c0001t0001g0052
a0001c0001t0001g0173
a0001c0001t0001g0181
others(74): Show 
a0001c0001t0001g0052
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0014g0074
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0004t0017g0205
a0001c0005t0047g0068
a0004c0008t0028g0276
a0006c0016t0064g0248
a0008c0015t0002g0050
 77 HG00408.hp2
HG00438.hp1
HG00609.hp1
others(74): Show 
HG00408.hp2
HG00438.hp1
HG00609.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01106.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01515.hp2
HG01516.hp1
HG01891.hp2
HG01952.hp2
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02258.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp2
HG02738.hp1
HG02809.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18970.hp2
NA18973.hp2
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19012.hp1
NA19030.hp2
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.303+1262A>T
c.303+1262A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13050392
chr20:13050613 T
T
 C
C
 1 a0001c0001t0001g0110
a0001c0001t0001g0110
 1 HG01358.hp2
HG01358.hp2
 intron_variant MODIFIER c.303+1483T>C
c.303+1483T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13050613
chr20:13050819 C
C
 T
T
 4 a0001c0005t0001g0080
a0001c0005t0004g0244
a0001c0005t0005g0081
others(1): Show 
a0001c0005t0001g0080
a0001c0005t0004g0244
a0001c0005t0005g0081
a0001c0005t0030g0285
 4 HG01891.hp1
HG02647.hp1
HG03041.hp1
others(1): Show 
HG01891.hp1
HG02647.hp1
HG03041.hp1
HG03195.hp2
 intron_variant MODIFIER c.303+1689C>T
c.303+1689C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13050819
chr20:13050877 G
G
 A
A
 259 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(256): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0017g0105
a0001c0004t0017g0205
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 259 HG00140.hp1
HG00140.hp2
HG00323.hp2
others(256): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+1747G>A
c.303+1747G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13050877
chr20:13051221 ATAAACT
ATAAACT
 A
A
 290 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(287): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 290 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(287): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+2096_303+2101d
others(8): Show 
c.303+2096_303+2101delCTTAAA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13051221
chr20:13051276 G
G
 T
T
 1 a0001c0005t0016g0147
a0001c0005t0016g0147
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.303+2146G>T
c.303+2146G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13051276
chr20:13051298 A
A
 C
C
 1 a0002c0002t0062g0280
a0002c0002t0062g0280
 1 NA18990.hp2
NA18990.hp2
 intron_variant MODIFIER c.303+2168A>C
c.303+2168A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13051298
chr20:13051419 G
G
 A
A
 290 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(287): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 290 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(287): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+2289G>A
c.303+2289G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13051419
chr20:13051440 G
G
 A
A
 290 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(287): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 290 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(287): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+2310G>A
c.303+2310G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13051440
chr20:13051446 T
T
 C
C
 77 a0001c0001t0001g0052
a0001c0001t0001g0173
a0001c0001t0001g0181
others(74): Show 
a0001c0001t0001g0052
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0014g0074
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0004t0017g0205
a0001c0005t0047g0068
a0004c0008t0028g0276
a0006c0016t0064g0248
a0008c0015t0002g0050
 77 HG00408.hp2
HG00438.hp1
HG00609.hp1
others(74): Show 
HG00408.hp2
HG00438.hp1
HG00609.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01106.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01515.hp2
HG01516.hp1
HG01891.hp2
HG01952.hp2
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02258.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp2
HG02738.hp1
HG02809.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18970.hp2
NA18973.hp2
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19012.hp1
NA19030.hp2
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.303+2316T>C
c.303+2316T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13051446
chr20:13051467 C
C
 T
T
 290 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(287): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 290 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(287): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+2337C>T
c.303+2337C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13051467
chr20:13051481 A
A
 G
G
 1 a0001c0001t0001g0173
a0001c0001t0001g0173
 1 HG00609.hp1
HG00609.hp1
 intron_variant MODIFIER c.303+2351A>G
c.303+2351A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13051481
chr20:13051625 G
G
 A
A
 1 a0004c0008t0006g0033
a0004c0008t0006g0033
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.303+2495G>A
c.303+2495G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13051625
chr20:13051782 G
G
 A
A
 1 a0003c0007t0006g0002
a0003c0007t0006g0002
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.303+2652G>A
c.303+2652G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13051782
chr20:13051791 A
A
 G
G
 290 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(287): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 290 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(287): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+2661A>G
c.303+2661A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13051791
chr20:13051824 T
T
 G
G
 1 a0002c0002t0001g0190
a0002c0002t0001g0190
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.303+2694T>G
c.303+2694T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13051824
chr20:13051875 A
A
 T
T
 259 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(256): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0017g0105
a0001c0004t0017g0205
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 259 HG00140.hp1
HG00140.hp2
HG00323.hp2
others(256): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+2745A>T
c.303+2745A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13051875
chr20:13051995 G
G
 C
C
 259 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(256): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0017g0105
a0001c0004t0017g0205
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 259 HG00140.hp1
HG00140.hp2
HG00323.hp2
others(256): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+2865G>C
c.303+2865G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13051995
chr20:13052091 G
G
 A
A
 1 a0002c0006t0005g0191
a0002c0006t0005g0191
 1 NA18949.hp2
NA18949.hp2
 intron_variant MODIFIER c.303+2961G>A
c.303+2961G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13052091
chr20:13052106 T
T
 A
A
 259 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(256): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0017g0105
a0001c0004t0017g0205
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 259 HG00140.hp1
HG00140.hp2
HG00323.hp2
others(256): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+2976T>A
c.303+2976T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13052106
chr20:13052163 C
C
 T
T
 1 a0002c0002t0031g0001
a0002c0002t0031g0001
 1 NA18948.hp2
NA18948.hp2
 intron_variant MODIFIER c.303+3033C>T
c.303+3033C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13052163
chr20:13052164 T
T
 G
G
 259 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(256): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0017g0105
a0001c0004t0017g0205
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 259 HG00140.hp1
HG00140.hp2
HG00323.hp2
others(256): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+3034T>G
c.303+3034T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13052164
chr20:13052263 G
G
 A
A
 92 a0001c0001t0001g0159
a0001c0001t0003g0192
a0001c0001t0004g0226
others(89): Show 
a0001c0001t0001g0159
a0001c0001t0003g0192
a0001c0001t0004g0226
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0015g0265
a0001c0001t0021g0064
a0001c0003t0005g0172
a0001c0003t0006g0040
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0006g0033
a0005c0011t0023g0166
a0007c0017t0013g0049
 92 HG00140.hp1
HG00423.hp1
HG00423.hp2
others(89): Show 
HG00140.hp1
HG00423.hp1
HG00423.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG01123.hp2
HG01168.hp2
HG01192.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp2
HG01496.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03239.hp1
HG03491.hp1
HG03831.hp1
HG04115.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18945.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18956.hp2
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18977.hp1
NA18981.hp1
NA18981.hp2
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19086.hp1
NA19089.hp1
NA19091.hp1
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+3133G>A
c.303+3133G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13052263
chr20:13052364 G
G
 C
C
 16 a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
others(13): Show 
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0014t0005g0083
 16 HG00140.hp1
HG00735.hp2
HG01123.hp2
others(13): Show 
HG00140.hp1
HG00735.hp2
HG01123.hp2
HG01258.hp2
HG01891.hp1
HG01978.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02896.hp1
HG02897.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp2
HG03491.hp1
HG06807.hp1
 intron_variant MODIFIER c.303+3234G>C
c.303+3234G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13052364
chr20:13052366 C
C
 T
T
 259 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(256): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0017g0105
a0001c0004t0017g0205
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 259 HG00140.hp1
HG00140.hp2
HG00323.hp2
others(256): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+3236C>T
c.303+3236C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13052366
chr20:13052473 CAGG
CAGG
 C
C
 79 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(76): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0017g0105
a0001c0005t0010g0231
a0001c0005t0025g0097
a0002c0002t0002g0008
a0002c0002t0016g0114
a0004c0008t0005g0140
 79 HG00140.hp2
HG00323.hp2
HG00408.hp1
others(76): Show 
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01515.hp1
HG01516.hp2
HG01975.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.303+3346_303+3348d
others(5): Show 
c.303+3346_303+3348delGAG
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13052473
chr20:13052699 A
A
 G
G
 248 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(245): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0017g0105
a0001c0004t0017g0205
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 248 HG00140.hp1
HG00140.hp2
HG00323.hp2
others(245): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+3569A>G
c.303+3569A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13052699
chr20:13052817 C
C
 T
T
 259 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(256): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0017g0105
a0001c0004t0017g0205
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 259 HG00140.hp1
HG00140.hp2
HG00323.hp2
others(256): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+3687C>T
c.303+3687C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13052817
chr20:13052889 C
C
 T
T
 259 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(256): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0017g0105
a0001c0004t0017g0205
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 259 HG00140.hp1
HG00140.hp2
HG00323.hp2
others(256): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+3759C>T
c.303+3759C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13052889
chr20:13053031 A
A
 G
G
 290 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(287): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 290 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(287): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+3901A>G
c.303+3901A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13053031
chr20:13053148 G
G
 T
T
 1 a0001c0001t0002g0021
a0001c0001t0002g0021
 1 NA18990.hp1
NA18990.hp1
 intron_variant MODIFIER c.303+4018G>T
c.303+4018G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13053148
chr20:13053170 C
C
 T
T
 1 a0005c0010t0037g0167
a0005c0010t0037g0167
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.303+4040C>T
c.303+4040C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13053170
chr20:13053229 C
C
 T
T
 1 a0002c0002t0008g0044
a0002c0002t0008g0044
 1 NA18951.hp2
NA18951.hp2
 intron_variant MODIFIER c.303+4099C>T
c.303+4099C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13053229
chr20:13053251 A
A
 G
G
 259 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(256): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0017g0105
a0001c0004t0017g0205
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 259 HG00140.hp1
HG00140.hp2
HG00323.hp2
others(256): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+4121A>G
c.303+4121A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13053251
chr20:13053357 A
A
 C
C
 172 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(169): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0159
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0192
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0017g0105
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0005c0011t0023g0166
a0007c0017t0013g0049
 172 HG00140.hp1
HG00140.hp2
HG00323.hp2
others(169): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03491.hp1
HG03540.hp2
HG03654.hp1
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp2
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19086.hp1
NA19089.hp1
NA19091.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+4227A>C
c.303+4227A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13053357
chr20:13053362 G
G
 T
T
 172 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(169): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0159
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0192
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0017g0105
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0005c0011t0023g0166
a0007c0017t0013g0049
 172 HG00140.hp1
HG00140.hp2
HG00323.hp2
others(169): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03491.hp1
HG03540.hp2
HG03654.hp1
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp2
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19086.hp1
NA19089.hp1
NA19091.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+4232G>T
c.303+4232G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13053362
chr20:13053417 G
G
 A
A
 259 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(256): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0017g0105
a0001c0004t0017g0205
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 259 HG00140.hp1
HG00140.hp2
HG00323.hp2
others(256): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+4287G>A
c.303+4287G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13053417
chr20:13053498 A
A
 G
G
 31 a0001c0001t0001g0110
a0001c0001t0003g0112
a0001c0001t0009g0111
others(28): Show 
a0001c0001t0001g0110
a0001c0001t0003g0112
a0001c0001t0009g0111
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0020g0138
a0001c0001t0051g0075
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0009t0005g0186
a0001c0009t0005g0204
a0003c0007t0006g0010
a0005c0010t0037g0167
 31 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(28): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00639.hp1
HG00738.hp1
HG01106.hp1
HG01109.hp1
HG01258.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01884.hp1
HG02071.hp1
HG02922.hp2
HG03017.hp1
HG03017.hp2
HG03491.hp2
HG03516.hp1
HG03669.hp2
HG04199.hp1
NA18948.hp1
NA18957.hp1
NA18982.hp1
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA19060.hp2
NA19070.hp2
NA19074.hp1
NA20129.hp2
 intron_variant MODIFIER c.303+4368A>G
c.303+4368A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13053498
chr20:13053587 T
T
 C
C
 259 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(256): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0017g0105
a0001c0004t0017g0205
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 259 HG00140.hp1
HG00140.hp2
HG00323.hp2
others(256): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+4457T>C
c.303+4457T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13053587
chr20:13053858 C
C
 T
T
 1 a0001c0005t0016g0147
a0001c0005t0016g0147
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.303+4728C>T
c.303+4728C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13053858
chr20:13053885 C
C
 G
G
 259 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(256): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0017g0105
a0001c0004t0017g0205
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 259 HG00140.hp1
HG00140.hp2
HG00323.hp2
others(256): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+4755C>G
c.303+4755C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13053885
chr20:13054003 T
T
 A
A
 4 a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
others(1): Show 
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0008g0005
 4 NA18944.hp1
NA19004.hp1
NA19068.hp2
others(1): Show 
NA18944.hp1
NA19004.hp1
NA19068.hp2
NA19070.hp1
 intron_variant MODIFIER c.303+4873T>A
c.303+4873T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13054003
chr20:13054057 C
C
 T
T
 172 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(169): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0159
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0192
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0017g0105
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0005c0011t0023g0166
a0007c0017t0013g0049
 172 HG00140.hp1
HG00140.hp2
HG00323.hp2
others(169): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03491.hp1
HG03540.hp2
HG03654.hp1
HG03831.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp2
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19086.hp1
NA19089.hp1
NA19091.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+4927C>T
c.303+4927C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13054057
chr20:13054087 G
G
 A
A
 259 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(256): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0017g0105
a0001c0004t0017g0205
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 259 HG00140.hp1
HG00140.hp2
HG00323.hp2
others(256): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+4957G>A
c.303+4957G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13054087
chr20:13054163 A
A
 G
G
 259 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(256): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0017g0105
a0001c0004t0017g0205
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 259 HG00140.hp1
HG00140.hp2
HG00323.hp2
others(256): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+5033A>G
c.303+5033A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13054163
chr20:13054178 C
C
 T
T
 1 a0005c0010t0037g0167
a0005c0010t0037g0167
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.303+5048C>T
c.303+5048C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13054178
chr20:13054217 G
G
 A
A
 259 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(256): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0017g0105
a0001c0004t0017g0205
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 259 HG00140.hp1
HG00140.hp2
HG00323.hp2
others(256): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+5087G>A
c.303+5087G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13054217
chr20:13054278 G
G
 A
A
 259 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(256): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0017g0105
a0001c0004t0017g0205
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 259 HG00140.hp1
HG00140.hp2
HG00323.hp2
others(256): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+5148G>A
c.303+5148G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13054278
chr20:13054350 G
G
 A
A
 1 a0003c0007t0006g0002
a0003c0007t0006g0002
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.303+5220G>A
c.303+5220G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13054350
chr20:13054738 A
A
 C
C
 1 a0001c0001t0007g0239
a0001c0001t0007g0239
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.303+5608A>C
c.303+5608A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13054738
chr20:13054796 T
T
 C
C
 1 a0001c0001t0055g0287
a0001c0001t0055g0287
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.303+5666T>C
c.303+5666T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13054796
chr20:13054945 C
C
 T
T
 92 a0001c0001t0001g0159
a0001c0001t0003g0192
a0001c0001t0004g0226
others(89): Show 
a0001c0001t0001g0159
a0001c0001t0003g0192
a0001c0001t0004g0226
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0015g0265
a0001c0001t0021g0064
a0001c0003t0005g0172
a0001c0003t0006g0040
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0006g0033
a0005c0011t0023g0166
a0007c0017t0013g0049
 92 HG00140.hp1
HG00423.hp1
HG00423.hp2
others(89): Show 
HG00140.hp1
HG00423.hp1
HG00423.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG01123.hp2
HG01168.hp2
HG01192.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp2
HG01496.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03239.hp1
HG03491.hp1
HG03831.hp1
HG04115.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18945.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18956.hp2
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18977.hp1
NA18981.hp1
NA18981.hp2
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19086.hp1
NA19089.hp1
NA19091.hp1
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+5815C>T
c.303+5815C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13054945
chr20:13055155 A
A
 G
G
 290 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(287): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 290 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(287): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+6025A>G
c.303+6025A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13055155
chr20:13055306 C
C
 T
T
 257 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(254): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0017g0105
a0001c0004t0017g0205
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 257 HG00140.hp1
HG00140.hp2
HG00323.hp2
others(254): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+6176C>T
c.303+6176C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13055306
chr20:13055570 G
G
 A
A
 1 a0001c0003t0011g0162
a0001c0003t0011g0162
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.303+6440G>A
c.303+6440G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13055570
chr20:13055579 C
C
 A
A
 33 a0001c0001t0001g0110
a0001c0001t0003g0112
a0001c0001t0007g0269
others(30): Show 
a0001c0001t0001g0110
a0001c0001t0003g0112
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0009g0111
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0020g0138
a0001c0001t0051g0075
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0009t0005g0186
a0001c0009t0005g0204
a0003c0007t0006g0010
a0005c0010t0037g0167
 33 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(30): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp2
HG00639.hp1
HG00738.hp1
HG01106.hp1
HG01109.hp1
HG01258.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01884.hp1
HG02071.hp1
HG02922.hp2
HG03017.hp1
HG03017.hp2
HG03491.hp2
HG03516.hp1
HG03669.hp2
HG04199.hp1
NA18948.hp1
NA18957.hp1
NA18970.hp2
NA18982.hp1
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA19060.hp2
NA19070.hp2
NA19074.hp1
NA20129.hp2
 intron_variant MODIFIER c.303+6449C>A
c.303+6449C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13055579
chr20:13055597 C
C
 A
A
 1 a0001c0001t0030g0261
a0001c0001t0030g0261
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.303+6467C>A
c.303+6467C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13055597
chr20:13055687 C
C
 T
T
 2 a0001c0001t0001g0106
a0001c0001t0001g0127
a0001c0001t0001g0106
a0001c0001t0001g0127
 2 NA18973.hp1
NA18998.hp2
NA18973.hp1
NA18998.hp2
 intron_variant MODIFIER c.303+6557C>T
c.303+6557C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13055687
chr20:13055688 A
A
 G
G
 257 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(254): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0017g0105
a0001c0004t0017g0205
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 257 HG00140.hp1
HG00140.hp2
HG00323.hp2
others(254): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+6558A>G
c.303+6558A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13055688
chr20:13055695 G
G
 A
A
 257 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(254): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0017g0105
a0001c0004t0017g0205
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 257 HG00140.hp1
HG00140.hp2
HG00323.hp2
others(254): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+6565G>A
c.303+6565G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13055695
chr20:13055765 G
G
 A
A
 1 a0001c0001t0004g0266
a0001c0001t0004g0266
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.303+6635G>A
c.303+6635G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13055765
chr20:13055959 T
T
 G
G
 257 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(254): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0017g0105
a0001c0004t0017g0205
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 257 HG00140.hp1
HG00140.hp2
HG00323.hp2
others(254): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+6829T>G
c.303+6829T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13055959
chr20:13056093 G
G
 A
A
 1 a0001c0003t0058g0257
a0001c0003t0058g0257
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.303+6963G>A
c.303+6963G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13056093
chr20:13056098 G
G
 A
A
 33 a0001c0001t0001g0110
a0001c0001t0003g0112
a0001c0001t0007g0269
others(30): Show 
a0001c0001t0001g0110
a0001c0001t0003g0112
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0009g0111
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0020g0138
a0001c0001t0051g0075
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0009t0005g0186
a0001c0009t0005g0204
a0003c0007t0006g0010
a0005c0010t0037g0167
 33 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(30): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp2
HG00639.hp1
HG00738.hp1
HG01106.hp1
HG01109.hp1
HG01258.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01884.hp1
HG02071.hp1
HG02922.hp2
HG03017.hp1
HG03017.hp2
HG03491.hp2
HG03516.hp1
HG03669.hp2
HG04199.hp1
NA18948.hp1
NA18957.hp1
NA18970.hp2
NA18982.hp1
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA19060.hp2
NA19070.hp2
NA19074.hp1
NA20129.hp2
 intron_variant MODIFIER c.303+6968G>A
c.303+6968G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13056098
chr20:13056152 G
G
 T
T
 85 a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
others(82): Show 
a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0014g0074
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0004t0017g0205
a0001c0005t0047g0068
a0001c0009t0011g0161
a0004c0008t0028g0276
a0006c0016t0064g0248
a0008c0015t0002g0050
 85 HG00438.hp1
HG00609.hp1
HG00741.hp1
others(82): Show 
HG00438.hp1
HG00609.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01106.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01515.hp2
HG01516.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02109.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02258.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18973.hp2
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19012.hp1
NA19030.hp2
NA19062.hp2
NA19063.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.303+7022G>T
c.303+7022G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13056152
chr20:13056441 C
C
 T
T
 85 a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
others(82): Show 
a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0014g0074
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0004t0017g0205
a0001c0005t0047g0068
a0001c0009t0011g0161
a0004c0008t0028g0276
a0006c0016t0064g0248
a0008c0015t0002g0050
 85 HG00438.hp1
HG00609.hp1
HG00741.hp1
others(82): Show 
HG00438.hp1
HG00609.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01106.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01515.hp2
HG01516.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02109.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02258.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18973.hp2
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19012.hp1
NA19030.hp2
NA19062.hp2
NA19063.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.303+7311C>T
c.303+7311C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13056441
chr20:13056453 TTTTC
TTTTC
 T
T
 87 a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0108
others(84): Show 
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0108
a0001c0001t0001g0159
a0001c0001t0001g0181
a0001c0001t0002g0011
a0001c0001t0002g0057
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0226
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0015g0265
a0001c0001t0021g0064
a0001c0001t0053g0250
a0001c0001t0055g0287
a0001c0003t0005g0172
a0001c0003t0006g0040
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0012g0217
a0001c0003t0041g0107
a0001c0004t0017g0205
a0001c0005t0004g0235
a0001c0005t0047g0068
a0002c0002t0001g0102
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
 87 HG00423.hp1
HG00423.hp2
HG00438.hp1
others(84): Show 
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01123.hp1
HG01168.hp2
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01496.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG02015.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02602.hp2
HG02615.hp2
HG02897.hp1
HG02897.hp2
HG03130.hp1
HG03209.hp2
HG03239.hp1
HG03831.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18943.hp2
NA18945.hp1
NA18946.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18956.hp2
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18977.hp1
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19086.hp1
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA20752.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+7327_303+7330d
others(6): Show 
c.303+7327_303+7330delCTTT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13056453
chr20:13056454 TTTC
TTTC
 T
T
 153 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0098
others(150): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0173
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0179
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0252
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0012g0259
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0054g0286
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0017g0105
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0014t0005g0083
a0002c0002t0001g0190
a0002c0002t0002g0008
a0002c0002t0003g0200
a0002c0002t0016g0114
a0002c0006t0006g0043
a0004c0008t0028g0276
a0008c0015t0002g0050
 153 HG00140.hp1
HG00323.hp2
HG00408.hp1
others(150): Show 
HG00140.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01258.hp2
HG01346.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp2
HG01978.hp2
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18949.hp1
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18967.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18990.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.303+7327_303+7329d
others(5): Show 
c.303+7327_303+7329delCTT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13056454
chr20:13056455 TTC
TTC
 T
T
 14 a0001c0001t0001g0141
a0001c0001t0001g0149
a0001c0001t0001g0150
others(11): Show 
a0001c0001t0001g0141
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0004g0273
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0010g0220
a0001c0009t0011g0161
 14 HG00140.hp2
HG01884.hp2
HG02055.hp1
others(11): Show 
HG00140.hp2
HG01884.hp2
HG02055.hp1
HG02109.hp2
HG02145.hp1
HG02622.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03516.hp2
NA18522.hp1
NA18954.hp1
NA20805.hp1
 intron_variant MODIFIER c.303+7327_303+7328d
others(4): Show 
c.303+7327_303+7328delCT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13056455
chr20:13056457 CT
CT
 C
C
 31 a0001c0001t0001g0110
a0001c0001t0003g0112
a0001c0001t0007g0269
others(28): Show 
a0001c0001t0001g0110
a0001c0001t0003g0112
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0009g0111
a0001c0001t0013g0058
a0001c0001t0013g0060
a0001c0001t0020g0138
a0001c0001t0051g0075
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0009t0005g0186
a0001c0009t0005g0204
a0003c0007t0006g0010
a0005c0010t0037g0167
 31 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(28): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp2
HG00639.hp1
HG01106.hp1
HG01109.hp1
HG01258.hp1
HG01346.hp2
HG01358.hp2
HG01496.hp1
HG01884.hp1
HG02071.hp1
HG02922.hp2
HG03017.hp1
HG03017.hp2
HG03491.hp2
HG03516.hp1
HG03669.hp2
HG04199.hp1
NA18948.hp1
NA18957.hp1
NA18970.hp2
NA18982.hp1
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA19060.hp2
NA19070.hp2
NA19074.hp1
NA20129.hp2
 intron_variant MODIFIER c.303+7341delT
c.303+7341delT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13056457
chr20:13056476 C
C
 T
T
 2 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0149
a0001c0001t0001g0150
 2 HG02965.hp1
HG03516.hp2
HG02965.hp1
HG03516.hp2
 intron_variant MODIFIER c.303+7346C>T
c.303+7346C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13056476
chr20:13056480 G
G
 A
A
 1 a0001c0001t0059g0290
a0001c0001t0059g0290
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.303+7350G>A
c.303+7350G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13056480
chr20:13056504 C
C
 G
G
 257 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(254): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0017g0105
a0001c0004t0017g0205
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 257 HG00140.hp1
HG00140.hp2
HG00323.hp2
others(254): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+7374C>G
c.303+7374C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13056504
chr20:13056683 C
C
 T
T
 257 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(254): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0017g0105
a0001c0004t0017g0205
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 257 HG00140.hp1
HG00140.hp2
HG00323.hp2
others(254): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+7553C>T
c.303+7553C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13056683
chr20:13056710 A
A
 C
C
 1 a0002c0002t0002g0062
a0002c0002t0002g0062
 1 NA18957.hp2
NA18957.hp2
 intron_variant MODIFIER c.303+7580A>C
c.303+7580A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13056710
chr20:13056740 T
T
 A
A
 9 a0001c0001t0001g0052
a0001c0001t0019g0053
a0001c0003t0010g0236
others(6): Show 
a0001c0001t0001g0052
a0001c0001t0019g0053
a0001c0003t0010g0236
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0047g0068
 9 HG01106.hp2
HG02615.hp2
HG03195.hp1
others(6): Show 
HG01106.hp2
HG02615.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03540.hp1
NA19030.hp2
NA21309.hp2
 intron_variant MODIFIER c.303+7610T>A
c.303+7610T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13056740
chr20:13056741 C
C
 CT
CT
 9 a0001c0001t0003g0126
a0001c0001t0010g0220
a0001c0001t0014g0074
others(6): Show 
a0001c0001t0003g0126
a0001c0001t0010g0220
a0001c0001t0014g0074
a0001c0003t0005g0125
a0001c0003t0049g0077
a0001c0004t0017g0205
a0001c0005t0005g0069
a0002c0002t0002g0008
a0002c0002t0007g0246
 9 HG01261.hp2
HG01515.hp2
HG02080.hp2
others(6): Show 
HG01261.hp2
HG01515.hp2
HG02080.hp2
HG02145.hp1
HG06807.hp1
NA18943.hp1
NA18961.hp2
NA19012.hp1
NA20300.hp2
 intron_variant MODIFIER c.303+7629dupT
c.303+7629dupT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13056741
chr20:13056741 CT
CT
 C
C
 49 a0001c0001t0001g0110
a0001c0001t0001g0149
a0001c0001t0002g0031
others(46): Show 
a0001c0001t0001g0110
a0001c0001t0001g0149
a0001c0001t0002g0031
a0001c0001t0002g0055
a0001c0001t0003g0070
a0001c0001t0003g0112
a0001c0001t0004g0291
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0034
a0001c0001t0009g0111
a0001c0001t0010g0215
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0016g0136
a0001c0001t0018g0104
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0045g0163
a0001c0001t0051g0075
a0001c0003t0010g0271
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0089
a0001c0009t0005g0186
a0001c0009t0005g0204
a0002c0002t0008g0017
a0002c0002t0016g0114
a0002c0002t0035g0056
a0003c0007t0006g0010
a0003c0007t0006g0063
a0005c0010t0037g0167
a0006c0016t0064g0248
 49 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(46): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00639.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01168.hp2
HG01258.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01975.hp1
HG02071.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03669.hp2
HG04199.hp1
HG04228.hp2
NA18948.hp1
NA18957.hp1
NA18970.hp2
NA18982.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18998.hp1
NA19060.hp2
NA19063.hp1
NA19068.hp2
NA19070.hp2
NA20129.hp2
 intron_variant MODIFIER c.303+7629delT
c.303+7629delT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13056741
chr20:13056837 G
G
 A
A
 257 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(254): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0017g0105
a0001c0004t0017g0205
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 257 HG00140.hp1
HG00140.hp2
HG00323.hp2
others(254): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+7707G>A
c.303+7707G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13056837
chr20:13056848 T
T
 A
A
 3 a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0009g0151
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0009g0151
 3 HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02723.hp2
HG02896.hp1
HG02897.hp1
 intron_variant MODIFIER c.303+7718T>A
c.303+7718T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13056848
chr20:13056903 G
G
 C
C
 257 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(254): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0017g0105
a0001c0004t0017g0205
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 257 HG00140.hp1
HG00140.hp2
HG00323.hp2
others(254): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+7773G>C
c.303+7773G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13056903
chr20:13056986 T
T
 C
C
 257 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(254): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0017g0105
a0001c0004t0017g0205
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 257 HG00140.hp1
HG00140.hp2
HG00323.hp2
others(254): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+7856T>C
c.303+7856T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13056986
chr20:13057033 C
C
 A
A
 85 a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
others(82): Show 
a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0014g0074
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0004t0017g0205
a0001c0005t0047g0068
a0001c0009t0011g0161
a0004c0008t0028g0276
a0006c0016t0064g0248
a0008c0015t0002g0050
 85 HG00438.hp1
HG00609.hp1
HG00741.hp1
others(82): Show 
HG00438.hp1
HG00609.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01106.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01515.hp2
HG01516.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02109.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02258.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18973.hp2
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19012.hp1
NA19030.hp2
NA19062.hp2
NA19063.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.303+7903C>A
c.303+7903C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13057033
chr20:13057036 G
G
 C
C
 85 a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
others(82): Show 
a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0014g0074
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0004t0017g0205
a0001c0005t0047g0068
a0001c0009t0011g0161
a0004c0008t0028g0276
a0006c0016t0064g0248
a0008c0015t0002g0050
 85 HG00438.hp1
HG00609.hp1
HG00741.hp1
others(82): Show 
HG00438.hp1
HG00609.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01106.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01515.hp2
HG01516.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02109.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02258.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18973.hp2
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19012.hp1
NA19030.hp2
NA19062.hp2
NA19063.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.303+7906G>C
c.303+7906G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13057036
chr20:13057327 A
A
 AT
AT
 178 a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
others(175): Show 
a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0014g0074
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0265
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0004t0017g0205
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 178 HG00140.hp1
HG00423.hp1
HG00423.hp2
others(175): Show 
HG00140.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp1
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18973.hp2
NA18977.hp1
NA18981.hp1
NA18981.hp2
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+8203dupT
c.303+8203dupT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13057327
chr20:13057342 A
A
 G
G
 1 a0001c0001t0055g0287
a0001c0001t0055g0287
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.303+8212A>G
c.303+8212A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13057342
chr20:13057422 C
C
 G
G
 1 a0001c0001t0057g0281
a0001c0001t0057g0281
 1 HG02015.hp2
HG02015.hp2
 intron_variant MODIFIER c.303+8292C>G
c.303+8292C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13057422
chr20:13057425 T
T
 C
C
 3 a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
 3 HG02074.hp2
HG02132.hp1
NA19062.hp2
HG02074.hp2
HG02132.hp1
NA19062.hp2
 intron_variant MODIFIER c.303+8295T>C
c.303+8295T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13057425
chr20:13057486 G
G
 A
A
 1 a0001c0004t0009g0185
a0001c0004t0009g0185
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.303+8356G>A
c.303+8356G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13057486
chr20:13057515 C
C
 T
T
 2 a0002c0002t0013g0041
a0002c0006t0006g0042
a0002c0002t0013g0041
a0002c0006t0006g0042
 2 HG00642.hp2
homoSapiens_chm13v2.hp1
HG00642.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+8385C>T
c.303+8385C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13057515
chr20:13057648 A
A
 G
G
 1 a0002c0002t0062g0280
a0002c0002t0062g0280
 1 NA18990.hp2
NA18990.hp2
 intron_variant MODIFIER c.303+8518A>G
c.303+8518A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13057648
chr20:13058075 C
C
 T
T
 97 a0001c0001t0001g0052
a0001c0001t0001g0159
a0001c0001t0001g0173
others(94): Show 
a0001c0001t0001g0052
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0252
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0014g0074
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0265
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0004t0017g0205
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0014t0005g0083
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0008c0015t0002g0050
 97 HG00140.hp1
HG00438.hp1
HG00609.hp1
others(94): Show 
HG00140.hp1
HG00438.hp1
HG00609.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01258.hp2
HG01515.hp2
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01952.hp2
HG01978.hp2
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03540.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18973.hp2
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19012.hp1
NA19030.hp2
NA19062.hp2
NA19063.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.303+8945C>T
c.303+8945C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13058075
chr20:13058144 TCAG
TCAG
 T
T
 74 a0001c0001t0001g0052
a0001c0001t0001g0173
a0001c0001t0001g0181
others(71): Show 
a0001c0001t0001g0052
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0252
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0014g0074
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0004t0017g0205
a0001c0005t0047g0068
a0004c0008t0028g0276
a0006c0016t0064g0248
a0008c0015t0002g0050
 74 HG00438.hp1
HG00609.hp1
HG00741.hp1
others(71): Show 
HG00438.hp1
HG00609.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01106.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01515.hp2
HG01516.hp1
HG01891.hp2
HG01952.hp2
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02258.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp2
HG02738.hp1
HG02809.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18973.hp2
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19012.hp1
NA19030.hp2
NA19062.hp2
NA19063.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.303+9017_303+9019d
others(5): Show 
c.303+9017_303+9019delGCA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13058144
chr20:13058290 T
T
 C
C
 1 a0005c0010t0037g0167
a0005c0010t0037g0167
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.303+9160T>C
c.303+9160T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13058290
chr20:13058374 G
G
 A
A
 74 a0001c0001t0001g0052
a0001c0001t0001g0173
a0001c0001t0001g0181
others(71): Show 
a0001c0001t0001g0052
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0252
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0014g0074
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0004t0017g0205
a0001c0005t0047g0068
a0004c0008t0028g0276
a0006c0016t0064g0248
a0008c0015t0002g0050
 74 HG00438.hp1
HG00609.hp1
HG00741.hp1
others(71): Show 
HG00438.hp1
HG00609.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01106.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01515.hp2
HG01516.hp1
HG01891.hp2
HG01952.hp2
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02258.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp2
HG02738.hp1
HG02809.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18973.hp2
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19012.hp1
NA19030.hp2
NA19062.hp2
NA19063.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.303+9244G>A
c.303+9244G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13058374
chr20:13058379 CA
CA
 C
C
 11 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
others(8): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0009t0011g0161
 11 HG01884.hp2
HG02055.hp1
HG02109.hp2
others(8): Show 
HG01884.hp2
HG02055.hp1
HG02109.hp2
HG02622.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03516.hp2
NA18522.hp1
NA20805.hp1
 intron_variant MODIFIER c.303+9252delA
c.303+9252delA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13058379
chr20:13058381 A
A
 G
G
 74 a0001c0001t0001g0052
a0001c0001t0001g0173
a0001c0001t0001g0181
others(71): Show 
a0001c0001t0001g0052
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0252
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0014g0074
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0004t0017g0205
a0001c0005t0047g0068
a0004c0008t0028g0276
a0006c0016t0064g0248
a0008c0015t0002g0050
 74 HG00438.hp1
HG00609.hp1
HG00741.hp1
others(71): Show 
HG00438.hp1
HG00609.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01106.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01515.hp2
HG01516.hp1
HG01891.hp2
HG01952.hp2
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02258.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp2
HG02738.hp1
HG02809.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18973.hp2
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19012.hp1
NA19030.hp2
NA19062.hp2
NA19063.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.303+9251A>G
c.303+9251A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13058381
chr20:13058407 C
C
 T
T
 123 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(120): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0238
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0025g0097
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0002c0002t0002g0008
a0002c0002t0016g0114
a0003c0007t0006g0010
a0004c0008t0005g0140
a0005c0010t0037g0167
 123 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(120): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01975.hp2
HG02055.hp1
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04199.hp1
HG04199.hp2
NA18522.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
 intron_variant MODIFIER c.303+9277C>T
c.303+9277C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13058407
chr20:13058454 C
C
 T
T
 9 a0001c0001t0001g0052
a0001c0001t0019g0053
a0001c0003t0010g0236
others(6): Show 
a0001c0001t0001g0052
a0001c0001t0019g0053
a0001c0003t0010g0236
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0047g0068
 9 HG01106.hp2
HG02615.hp2
HG03195.hp1
others(6): Show 
HG01106.hp2
HG02615.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03540.hp1
NA19030.hp2
NA21309.hp2
 intron_variant MODIFIER c.303+9324C>T
c.303+9324C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13058454
chr20:13058629 C
C
 T
T
 1 a0001c0004t0009g0207
a0001c0004t0009g0207
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.303+9499C>T
c.303+9499C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13058629
chr20:13058822 C
C
 T
T
 1 a0001c0001t0001g0210
a0001c0001t0001g0210
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.303+9692C>T
c.303+9692C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13058822
chr20:13058874 C
C
 G
G
 97 a0001c0001t0001g0052
a0001c0001t0001g0159
a0001c0001t0001g0173
others(94): Show 
a0001c0001t0001g0052
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0252
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0014g0074
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0265
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0004t0017g0205
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0014t0005g0083
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0008c0015t0002g0050
 97 HG00140.hp1
HG00438.hp1
HG00609.hp1
others(94): Show 
HG00140.hp1
HG00438.hp1
HG00609.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01258.hp2
HG01515.hp2
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01952.hp2
HG01978.hp2
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03540.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18973.hp2
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19012.hp1
NA19030.hp2
NA19062.hp2
NA19063.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.303+9744C>G
c.303+9744C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13058874
chr20:13058937 G
G
 A
A
 1 a0001c0001t0004g0229
a0001c0001t0004g0229
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.303+9807G>A
c.303+9807G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13058937
chr20:13059015 C
C
 T
T
 97 a0001c0001t0001g0052
a0001c0001t0001g0159
a0001c0001t0001g0173
others(94): Show 
a0001c0001t0001g0052
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0252
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0014g0074
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0265
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0004t0017g0205
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0014t0005g0083
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0008c0015t0002g0050
 97 HG00140.hp1
HG00438.hp1
HG00609.hp1
others(94): Show 
HG00140.hp1
HG00438.hp1
HG00609.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01258.hp2
HG01515.hp2
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01952.hp2
HG01978.hp2
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03540.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18973.hp2
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19012.hp1
NA19030.hp2
NA19062.hp2
NA19063.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.303+9885C>T
c.303+9885C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13059015
chr20:13059110 C
C
 A
A
 1 a0001c0001t0013g0060
a0001c0001t0013g0060
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.303+9980C>A
c.303+9980C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13059110
chr20:13059162 T
T
 C
C
 98 a0001c0001t0001g0052
a0001c0001t0001g0159
a0001c0001t0001g0173
others(95): Show 
a0001c0001t0001g0052
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0252
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0014g0074
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0265
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0004t0017g0205
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0014t0005g0083
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0008c0015t0002g0050
 98 HG00140.hp1
HG00438.hp1
HG00609.hp1
others(95): Show 
HG00140.hp1
HG00438.hp1
HG00609.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01258.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp2
HG01978.hp2
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03540.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18973.hp2
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19012.hp1
NA19030.hp2
NA19062.hp2
NA19063.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.303+10032T>C
c.303+10032T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13059162
chr20:13059175 C
C
 A
A
 6 a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
others(3): Show 
a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0004g0226
a0001c0001t0015g0265
a0001c0001t0019g0160
 6 HG01167.hp2
HG02145.hp2
HG02257.hp1
others(3): Show 
HG01167.hp2
HG02145.hp2
HG02257.hp1
HG03225.hp2
HG06807.hp2
NA19240.hp1
 intron_variant MODIFIER c.303+10045C>A
c.303+10045C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13059175
chr20:13059217 C
C
 T
T
 1 a0001c0005t0010g0231
a0001c0005t0010g0231
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.303+10087C>T
c.303+10087C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13059217
chr20:13059234 CCT
CCT
 C
C
 24 a0001c0001t0001g0159
a0001c0001t0004g0226
a0001c0001t0015g0265
others(21): Show 
a0001c0001t0001g0159
a0001c0001t0004g0226
a0001c0001t0015g0265
a0001c0001t0021g0064
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0014t0005g0083
a0005c0011t0023g0166
 24 HG00140.hp1
HG00735.hp2
HG01123.hp2
others(21): Show 
HG00140.hp1
HG00735.hp2
HG01123.hp2
HG01258.hp2
HG01516.hp2
HG01891.hp1
HG01978.hp2
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02451.hp1
HG02622.hp1
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02896.hp1
HG02897.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp2
HG03491.hp1
HG06807.hp1
HG06807.hp2
 intron_variant MODIFIER c.303+10105_303+1010
others(6): Show 
c.303+10105_303+10106delCT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13059234
chr20:13059314 G
G
 A
A
 98 a0001c0001t0001g0052
a0001c0001t0001g0159
a0001c0001t0001g0173
others(95): Show 
a0001c0001t0001g0052
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0252
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0014g0074
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0265
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0004t0017g0205
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0014t0005g0083
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0008c0015t0002g0050
 98 HG00140.hp1
HG00438.hp1
HG00609.hp1
others(95): Show 
HG00140.hp1
HG00438.hp1
HG00609.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01258.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp2
HG01978.hp2
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03540.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18973.hp2
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19012.hp1
NA19030.hp2
NA19062.hp2
NA19063.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.303+10184G>A
c.303+10184G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13059314
chr20:13059330 G
G
 T
T
 7 a0001c0001t0001g0052
a0001c0001t0019g0053
a0001c0003t0011g0152
others(4): Show 
a0001c0001t0001g0052
a0001c0001t0019g0053
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
 7 HG01106.hp2
HG03195.hp1
HG03209.hp1
others(4): Show 
HG01106.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03540.hp1
NA19030.hp2
 intron_variant MODIFIER c.303+10200G>T
c.303+10200G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13059330
chr20:13059349 C
C
 T
T
 98 a0001c0001t0001g0052
a0001c0001t0001g0159
a0001c0001t0001g0173
others(95): Show 
a0001c0001t0001g0052
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0252
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0014g0074
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0265
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0004t0017g0205
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0014t0005g0083
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0008c0015t0002g0050
 98 HG00140.hp1
HG00438.hp1
HG00609.hp1
others(95): Show 
HG00140.hp1
HG00438.hp1
HG00609.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01258.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp2
HG01978.hp2
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03540.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18973.hp2
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19012.hp1
NA19030.hp2
NA19062.hp2
NA19063.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.303+10219C>T
c.303+10219C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13059349
chr20:13059564 T
T
 C
C
 109 a0001c0001t0001g0052
a0001c0001t0001g0159
a0001c0001t0001g0173
others(106): Show 
a0001c0001t0001g0052
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0252
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0014g0074
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0265
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0004t0017g0205
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0043g0193
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0008c0015t0002g0050
 109 HG00140.hp1
HG00423.hp1
HG00438.hp1
others(106): Show 
HG00140.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01258.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp2
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03540.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18959.hp1
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18973.hp2
NA18981.hp1
NA18985.hp1
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19010.hp1
NA19012.hp1
NA19030.hp2
NA19062.hp2
NA19063.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.303+10434T>C
c.303+10434T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13059564
chr20:13059606 G
G
 T
T
 33 a0001c0001t0001g0110
a0001c0001t0003g0112
a0001c0001t0007g0269
others(30): Show 
a0001c0001t0001g0110
a0001c0001t0003g0112
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0009g0111
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0020g0138
a0001c0001t0051g0075
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0009t0005g0186
a0001c0009t0005g0204
a0003c0007t0006g0010
a0007c0017t0013g0049
 33 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(30): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp2
HG00639.hp1
HG00738.hp1
HG01106.hp1
HG01109.hp1
HG01258.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG02071.hp1
HG02922.hp2
HG03017.hp1
HG03017.hp2
HG03491.hp2
HG03516.hp1
HG03669.hp2
HG04199.hp1
HG04204.hp1
NA18948.hp1
NA18957.hp1
NA18970.hp2
NA18982.hp1
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA19060.hp2
NA19070.hp2
NA19074.hp1
NA20129.hp2
 intron_variant MODIFIER c.303+10476G>T
c.303+10476G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13059606
chr20:13060377 G
G
 GTTAT
GTTAT
 76 a0001c0001t0003g0192
a0001c0001t0004g0226
a0001c0001t0008g0034
others(73): Show 
a0001c0001t0003g0192
a0001c0001t0004g0226
a0001c0001t0008g0034
a0001c0003t0005g0172
a0001c0003t0006g0040
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0005g0069
a0001c0005t0009g0079
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0006g0033
 76 HG00140.hp1
HG00423.hp1
HG00423.hp2
others(73): Show 
HG00140.hp1
HG00423.hp1
HG00423.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp2
HG01123.hp2
HG01168.hp2
HG01192.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp2
HG01515.hp1
HG01516.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02135.hp2
HG02155.hp1
HG02257.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02622.hp1
HG02738.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG03491.hp1
HG03831.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18945.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18956.hp2
NA18957.hp2
NA18960.hp1
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18977.hp1
NA18981.hp1
NA18981.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA19010.hp1
NA19011.hp2
NA19012.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19086.hp1
NA19089.hp1
NA19091.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+11284_303+1128
others(8): Show 
c.303+11284_303+11287dupTTAT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13060377
chr20:13060377 G
G
 GTTATTTA
others(1): Show 
GTTATTTAT
 3 a0001c0005t0009g0151
a0001c0005t0048g0164
a0002c0002t0002g0030
a0001c0005t0009g0151
a0001c0005t0048g0164
a0002c0002t0002g0030
 3 HG02723.hp2
HG03139.hp1
NA18961.hp1
HG02723.hp2
HG03139.hp1
NA18961.hp1
 intron_variant MODIFIER c.303+11280_303+1128
others(12): Show 
c.303+11280_303+11287dupTTATTTAT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13060377
chr20:13060377 GTTAT
GTTAT
 G
G
 7 a0001c0001t0001g0124
a0001c0001t0005g0128
a0001c0001t0007g0240
others(4): Show 
a0001c0001t0001g0124
a0001c0001t0005g0128
a0001c0001t0007g0240
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0003t0010g0236
a0007c0017t0013g0049
 7 HG01168.hp1
HG01192.hp1
HG01255.hp1
others(4): Show 
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01346.hp1
HG01884.hp2
HG04204.hp1
NA21309.hp2
 intron_variant MODIFIER c.303+11284_303+1128
others(8): Show 
c.303+11284_303+11287delTTAT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13060377
chr20:13060377 GTTATTTA
others(1): Show 
GTTATTTAT
 G
G
 115 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(112): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0238
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0241
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0003c0007t0006g0010
a0004c0008t0005g0140
a0005c0010t0037g0167
 115 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(112): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01975.hp2
HG02055.hp1
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04199.hp1
HG04199.hp2
NA18522.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
 intron_variant MODIFIER c.303+11280_303+1128
others(12): Show 
c.303+11280_303+11287delTTATTTAT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13060377
chr20:13060407 T
T
 TATTA
TATTA
 64 a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
others(61): Show 
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0252
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0014g0074
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0019g0160
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0004t0017g0205
a0004c0008t0028g0276
a0006c0016t0064g0248
a0008c0015t0002g0050
 64 HG00438.hp1
HG00609.hp1
HG00741.hp1
others(61): Show 
HG00438.hp1
HG00609.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01515.hp2
HG01516.hp1
HG01891.hp2
HG01952.hp2
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02258.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02630.hp1
HG02647.hp2
HG02738.hp1
HG02809.hp2
HG03209.hp2
HG03486.hp1
HG03486.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18973.hp2
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19012.hp1
NA19062.hp2
NA19063.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.303+11280_303+1128
others(8): Show 
c.303+11280_303+11281insAATT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13060407
chr20:13060407 T
T
 TATTTATT
others(5): Show 
TATTTATTTATTA
 1 a0001c0001t0001g0210
a0001c0001t0001g0210
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.303+11287_303+1128
others(16): Show 
c.303+11287_303+11288insTAATTTATTTAT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13060407
chr20:13060450 AT
AT
 A
A
 33 a0001c0001t0001g0052
a0001c0001t0001g0159
a0001c0001t0001g0210
others(30): Show 
a0001c0001t0001g0052
a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0004g0226
a0001c0001t0015g0265
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0014t0005g0083
a0005c0011t0023g0166
 33 HG00140.hp1
HG00735.hp2
HG01106.hp2
others(30): Show 
HG00140.hp1
HG00735.hp2
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01516.hp2
HG01891.hp1
HG01978.hp2
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02451.hp1
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02896.hp1
HG02897.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03491.hp1
HG03540.hp1
HG06807.hp1
HG06807.hp2
NA19030.hp2
NA19240.hp1
 intron_variant MODIFIER c.303+11328delT
c.303+11328delT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13060450
chr20:13060719 G
G
 C
C
 115 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(112): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0009t0005g0186
a0001c0009t0005g0204
a0003c0007t0006g0010
a0004c0008t0005g0140
a0005c0010t0037g0167
a0007c0017t0013g0049
 115 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(112): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01975.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-11537G>C
c.304-11537G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13060719
chr20:13060787 T
T
 C
C
 1 a0001c0012t0023g0165
a0001c0012t0023g0165
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.304-11469T>C
c.304-11469T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13060787
chr20:13060788 C
C
 CT
CT
 75 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0017g0105
a0004c0008t0005g0140
 75 HG00140.hp2
HG00323.hp2
HG00408.hp1
others(72): Show 
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-11462dupT
c.304-11462dupT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13060788
chr20:13060814 T
T
 TTG
TTG
 36 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
others(33): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0173
a0001c0001t0001g0292
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0238
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0012g0259
a0001c0001t0015g0264
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0055g0287
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0032g0022
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0009g0139
a0001c0005t0010g0231
a0001c0009t0011g0161
a0001c0012t0023g0165
a0002c0002t0001g0199
a0002c0002t0003g0198
 36 HG00609.hp1
HG01109.hp1
HG01109.hp2
others(33): Show 
HG00609.hp1
HG01109.hp1
HG01109.hp2
HG01192.hp2
HG01255.hp2
HG01884.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02280.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG04115.hp2
HG04199.hp2
NA18522.hp1
NA18954.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA20300.hp1
NA20805.hp1
 intron_variant MODIFIER c.304-11422_304-1142
others(6): Show 
c.304-11422_304-11421dupGT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13060814
chr20:13060814 T
T
 TTGTG
TTGTG
 88 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(85): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0247
a0001c0001t0005g0092
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0028g0249
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0009t0005g0186
a0001c0009t0005g0204
a0004c0008t0005g0140
a0007c0017t0013g0049
 88 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(85): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01975.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02602.hp1
HG02922.hp2
HG03017.hp1
HG03017.hp2
HG03239.hp2
HG03491.hp2
HG03516.hp1
HG03654.hp1
HG03669.hp2
HG04199.hp1
HG04204.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19060.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-11424_304-1142
others(8): Show 
c.304-11424_304-11421dupGTGT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13060814
chr20:13060814 T
T
 TTGTGTG
TTGTGTG
 4 a0001c0001t0005g0128
a0001c0004t0024g0202
a0003c0007t0006g0010
others(1): Show 
a0001c0001t0005g0128
a0001c0004t0024g0202
a0003c0007t0006g0010
a0005c0010t0037g0167
 4 HG01255.hp1
HG01884.hp1
NA18998.hp1
others(1): Show 
HG01255.hp1
HG01884.hp1
NA18998.hp1
NA20129.hp2
 intron_variant MODIFIER c.304-11426_304-1142
others(10): Show 
c.304-11426_304-11421dupGTGTGT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13060814
chr20:13060814 TTGTGTG
TTGTGTG
 T
T
 13 a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
others(10): Show 
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0005g0069
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0048g0164
a0001c0014t0005g0083
 13 HG00140.hp1
HG00735.hp2
HG01123.hp2
others(10): Show 
HG00140.hp1
HG00735.hp2
HG01123.hp2
HG01258.hp2
HG01516.hp2
HG01978.hp2
HG02723.hp2
HG02738.hp2
HG02896.hp1
HG02897.hp1
HG03139.hp1
HG03491.hp1
HG06807.hp1
 intron_variant MODIFIER c.304-11426_304-1142
others(10): Show 
c.304-11426_304-11421delGTGTGT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13060814
chr20:13060985 G
G
 A
A
 64 a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
others(61): Show 
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0252
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0014g0074
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0019g0160
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0004t0017g0205
a0004c0008t0028g0276
a0006c0016t0064g0248
a0008c0015t0002g0050
 64 HG00438.hp1
HG00609.hp1
HG00741.hp1
others(61): Show 
HG00438.hp1
HG00609.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01515.hp2
HG01516.hp1
HG01891.hp2
HG01952.hp2
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02258.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02630.hp1
HG02647.hp2
HG02738.hp1
HG02809.hp2
HG03209.hp2
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18973.hp2
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19012.hp1
NA19062.hp2
NA19063.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.304-11271G>A
c.304-11271G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13060985
chr20:13061042 C
C
 T
T
 1 a0002c0002t0007g0279
a0002c0002t0007g0279
 1 NA18945.hp1
NA18945.hp1
 intron_variant MODIFIER c.304-11214C>T
c.304-11214C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13061042
chr20:13061144 G
G
 A
A
 1 a0001c0005t0047g0068
a0001c0005t0047g0068
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.304-11112G>A
c.304-11112G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13061144
chr20:13061324 A
A
 G
G
 2 a0001c0001t0021g0064
a0005c0011t0023g0166
a0001c0001t0021g0064
a0005c0011t0023g0166
 2 HG02258.hp1
HG02451.hp1
HG02258.hp1
HG02451.hp1
 intron_variant MODIFIER c.304-10932A>G
c.304-10932A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13061324
chr20:13061480 G
G
 T
T
 1 a0004c0008t0028g0276
a0004c0008t0028g0276
 1 HG01952.hp2
HG01952.hp2
 intron_variant MODIFIER c.304-10776G>T
c.304-10776G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13061480
chr20:13061490 C
C
 T
T
 1 a0002c0002t0002g0046
a0002c0002t0002g0046
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.304-10766C>T
c.304-10766C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13061490
chr20:13061616 T
T
 C
C
 6 a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
others(3): Show 
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0009t0011g0161
 6 HG01884.hp2
HG02055.hp1
HG02109.hp2
others(3): Show 
HG01884.hp2
HG02055.hp1
HG02109.hp2
HG02622.hp2
NA18522.hp1
NA20805.hp1
 intron_variant MODIFIER c.304-10640T>C
c.304-10640T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13061616
chr20:13061776 C
C
 A
A
 2 a0002c0002t0013g0041
a0002c0006t0006g0042
a0002c0002t0013g0041
a0002c0006t0006g0042
 2 HG00642.hp2
homoSapiens_chm13v2.hp1
HG00642.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.304-10480C>A
c.304-10480C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13061776
chr20:13061802 C
C
 T
T
 139 a0001c0001t0001g0052
a0001c0001t0001g0110
a0001c0001t0001g0149
others(136): Show 
a0001c0001t0001g0052
a0001c0001t0001g0110
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0112
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0009g0111
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0265
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0051g0075
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0012t0023g0165
a0001c0014t0005g0083
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 139 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(136): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp2
HG00438.hp1
HG00609.hp1
HG00639.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18948.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18957.hp1
NA18959.hp1
NA18970.hp2
NA18973.hp2
NA18982.hp1
NA18985.hp2
NA18986.hp2
NA18990.hp1
NA18998.hp1
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19060.hp2
NA19062.hp2
NA19063.hp1
NA19070.hp2
NA19074.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.304-10454C>T
c.304-10454C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13061802
chr20:13061803 C
C
 T
T
 6 a0001c0001t0001g0159
a0001c0001t0004g0225
a0001c0001t0004g0226
others(3): Show 
a0001c0001t0001g0159
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0015g0265
a0001c0001t0021g0064
a0005c0011t0023g0166
 6 HG02145.hp2
HG02257.hp1
HG02258.hp1
others(3): Show 
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02451.hp1
HG06807.hp2
NA21309.hp1
 intron_variant MODIFIER c.304-10453C>T
c.304-10453C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13061803
chr20:13062016 T
T
 A
A
 1 a0001c0004t0014g0137
a0001c0004t0014g0137
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.304-10240T>A
c.304-10240T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13062016
chr20:13062062 G
G
 A
A
 1 a0001c0001t0004g0233
a0001c0001t0004g0233
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.304-10194G>A
c.304-10194G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13062062
chr20:13062267 C
C
 T
T
 1 a0005c0010t0037g0167
a0005c0010t0037g0167
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.304-9989C>T
c.304-9989C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13062267
chr20:13062268 G
G
 A
A
 1 a0002c0006t0006g0036
a0002c0006t0006g0036
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.304-9988G>A
c.304-9988G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13062268
chr20:13062342 G
G
 A
A
 65 a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
others(62): Show 
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0252
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0014g0074
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0019g0160
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0004t0017g0205
a0004c0008t0028g0276
a0006c0016t0064g0248
a0008c0015t0002g0050
 65 HG00438.hp1
HG00609.hp1
HG00741.hp1
others(62): Show 
HG00438.hp1
HG00609.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01515.hp2
HG01516.hp1
HG01891.hp2
HG01952.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02258.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02630.hp1
HG02647.hp2
HG02738.hp1
HG02809.hp2
HG03209.hp2
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18973.hp2
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19012.hp1
NA19062.hp2
NA19063.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.304-9914G>A
c.304-9914G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13062342
chr20:13062366 A
A
 C
C
 220 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(217): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0004c0008t0005g0140
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 220 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(217): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18990.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.304-9890A>C
c.304-9890A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13062366
chr20:13062457 T
T
 G
G
 1 a0002c0002t0002g0014
a0002c0002t0002g0014
 1 NA18977.hp1
NA18977.hp1
 intron_variant MODIFIER c.304-9799T>G
c.304-9799T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13062457
chr20:13062494 A
A
 G
G
 1 a0001c0005t0020g0078
a0001c0005t0020g0078
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.304-9762A>G
c.304-9762A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13062494
chr20:13062632 A
A
 T
T
 3 a0001c0001t0003g0076
a0001c0001t0003g0126
a0001c0003t0049g0077
a0001c0001t0003g0076
a0001c0001t0003g0126
a0001c0003t0049g0077
 3 NA18961.hp2
NA19066.hp1
NA20300.hp2
NA18961.hp2
NA19066.hp1
NA20300.hp2
 intron_variant MODIFIER c.304-9624A>T
c.304-9624A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13062632
chr20:13062689 G
G
 C
C
 1 a0001c0005t0010g0231
a0001c0005t0010g0231
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.304-9567G>C
c.304-9567G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13062689
chr20:13062984 C
C
 T
T
 2 a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0227
a0001c0005t0004g0235
 2 HG02896.hp1
HG02897.hp1
HG02896.hp1
HG02897.hp1
 intron_variant MODIFIER c.304-9272C>T
c.304-9272C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13062984
chr20:13063011 A
A
 C
C
 1 a0005c0010t0037g0167
a0005c0010t0037g0167
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.304-9245A>C
c.304-9245A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13063011
chr20:13063029 C
C
 T
T
 1 a0003c0007t0006g0020
a0003c0007t0006g0020
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.304-9227C>T
c.304-9227C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13063029
chr20:13063038 T
T
 A
A
 1 a0001c0005t0048g0164
a0001c0005t0048g0164
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.304-9218T>A
c.304-9218T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13063038
chr20:13063075 C
C
 T
T
 1 a0002c0006t0005g0191
a0002c0006t0005g0191
 1 NA18949.hp2
NA18949.hp2
 intron_variant MODIFIER c.304-9181C>T
c.304-9181C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13063075
chr20:13063269 A
A
 C
C
 3 a0001c0001t0012g0259
a0001c0003t0012g0258
a0001c0003t0058g0257
a0001c0001t0012g0259
a0001c0003t0012g0258
a0001c0003t0058g0257
 3 HG02280.hp1
HG03540.hp2
NA19043.hp1
HG02280.hp1
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.304-8987A>C
c.304-8987A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13063269
chr20:13063397 G
G
 A
A
 1 a0002c0002t0002g0051
a0002c0002t0002g0051
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.304-8859G>A
c.304-8859G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13063397
chr20:13063538 C
C
 T
T
 1 a0001c0001t0005g0092
a0001c0001t0005g0092
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.304-8718C>T
c.304-8718C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13063538
chr20:13063625 A
A
 T
T
 1 a0001c0001t0004g0234
a0001c0001t0004g0234
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.304-8631A>T
c.304-8631A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13063625
chr20:13063637 T
T
 TATTTATT
others(6): Show 
TATTTATTTATTTA
 2 a0001c0001t0004g0242
a0001c0003t0005g0183
a0001c0001t0004g0242
a0001c0003t0005g0183
 2 NA19001.hp1
NA19001.hp2
NA19001.hp1
NA19001.hp2
 intron_variant MODIFIER c.304-8619_304-8618i
others(15): Show 
c.304-8619_304-8618insATTTATTTATTTA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13063637
chr20:13063637 T
T
 TTTTA
TTTTA
 78 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(75): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0017g0105
a0001c0012t0023g0165
a0004c0008t0005g0140
a0005c0010t0037g0167
 78 HG00323.hp2
HG00408.hp1
HG00438.hp2
others(75): Show 
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01884.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18959.hp2
NA18960.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-8591_304-8588d
others(6): Show 
c.304-8591_304-8588dupATTT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13063637
chr20:13063637 T
T
 TTTTATTT
others(1): Show 
TTTTATTTA
 66 a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
others(63): Show 
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0180
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0252
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0033g0045
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0003t0005g0168
a0001c0003t0006g0040
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0262
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0049g0077
a0001c0004t0017g0205
a0004c0008t0028g0276
a0006c0016t0064g0248
a0008c0015t0002g0050
 66 HG00438.hp1
HG00609.hp1
HG00741.hp1
others(63): Show 
HG00438.hp1
HG00609.hp1
HG00741.hp1
HG01069.hp1
HG01071.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01516.hp1
HG01891.hp2
HG01952.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02258.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02602.hp2
HG02630.hp1
HG02647.hp2
HG02738.hp1
HG02809.hp2
HG03195.hp1
HG03209.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18961.hp2
NA18973.hp2
NA18990.hp1
NA19000.hp1
NA19012.hp1
NA19030.hp2
NA19062.hp2
NA19063.hp1
NA19066.hp1
NA19070.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA21309.hp2
 intron_variant MODIFIER c.304-8595_304-8588d
others(10): Show 
c.304-8595_304-8588dupATTTATTT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13063637
chr20:13063637 T
T
 TTTTATTT
others(5): Show 
TTTTATTTATTTA
 10 a0001c0001t0001g0052
a0001c0001t0001g0210
a0001c0001t0003g0179
others(7): Show 
a0001c0001t0001g0052
a0001c0001t0001g0210
a0001c0001t0003g0179
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0061g0274
a0001c0003t0012g0217
a0001c0005t0010g0231
 10 HG00741.hp2
HG01243.hp2
HG01515.hp2
others(7): Show 
HG00741.hp2
HG01243.hp2
HG01515.hp2
HG02559.hp2
HG02622.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
NA18747.hp2
NA20805.hp2
 intron_variant MODIFIER c.304-8599_304-8588d
others(14): Show 
c.304-8599_304-8588dupATTTATTTATTT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13063637
chr20:13063800 G
G
 A
A
 2 a0001c0005t0010g0231
a0001c0012t0023g0165
a0001c0005t0010g0231
a0001c0012t0023g0165
 2 HG02622.hp1
HG02895.hp2
HG02622.hp1
HG02895.hp2
 intron_variant MODIFIER c.304-8456G>A
c.304-8456G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13063800
chr20:13063903 G
G
 T
T
 6 a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
others(3): Show 
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0009t0011g0161
 6 HG01884.hp2
HG02055.hp1
HG02109.hp2
others(3): Show 
HG01884.hp2
HG02055.hp1
HG02109.hp2
HG02622.hp2
NA18522.hp1
NA20805.hp1
 intron_variant MODIFIER c.304-8353G>T
c.304-8353G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13063903
chr20:13063919 A
A
 G
G
 2 a0001c0001t0001g0141
a0001c0001t0003g0123
a0001c0001t0001g0141
a0001c0001t0003g0123
 2 HG00140.hp2
HG01433.hp2
HG00140.hp2
HG01433.hp2
 intron_variant MODIFIER c.304-8337A>G
c.304-8337A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13063919
chr20:13063968 G
G
 T
T
 1 a0001c0001t0001g0093
a0001c0001t0001g0093
 1 HG00621.hp2
HG00621.hp2
 intron_variant MODIFIER c.304-8288G>T
c.304-8288G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13063968
chr20:13064031 C
C
 A
A
 1 a0001c0003t0012g0258
a0001c0003t0012g0258
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.304-8225C>A
c.304-8225C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13064031
chr20:13064177 G
G
 A
A
 5 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
others(2): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
 5 HG02809.hp1
HG02896.hp2
HG02965.hp1
others(2): Show 
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03516.hp2
 intron_variant MODIFIER c.304-8079G>A
c.304-8079G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13064177
chr20:13064187 A
A
 C
C
 1 a0001c0001t0033g0045
a0001c0001t0033g0045
 1 NA19086.hp2
NA19086.hp2
 intron_variant MODIFIER c.304-8069A>C
c.304-8069A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13064187
chr20:13064262 TTTCC
TTTCC
 T
T
 115 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(112): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0010g0231
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0012t0023g0165
a0004c0008t0005g0140
a0005c0010t0037g0167
a0007c0017t0013g0049
 115 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(112): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01975.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-7991_304-7988d
others(6): Show 
c.304-7991_304-7988delCCTT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13064262
chr20:13064265 C
C
 T
T
 1 a0001c0003t0049g0077
a0001c0003t0049g0077
 1 NA18961.hp2
NA18961.hp2
 intron_variant MODIFIER c.304-7991C>T
c.304-7991C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13064265
chr20:13064270 TCTTTTTT
others(24): Show 
TCTTTTTTTTTTTTGTTTTGTTTTTGTTTTTG
 T
T
 1 a0001c0003t0049g0077
a0001c0003t0049g0077
 1 NA18961.hp2
NA18961.hp2
 intron_variant MODIFIER c.304-7985_304-7955d
others(33): Show 
c.304-7985_304-7955delCTTTTTTTTTTTTGTTTTGTTTTTGTTT
TTG
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13064270
chr20:13064271 CTT
CTT
 C
C
 8 a0001c0001t0001g0052
a0001c0001t0019g0053
a0001c0001t0019g0160
others(5): Show 
a0001c0001t0001g0052
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
 8 HG01106.hp2
HG01167.hp2
HG03195.hp1
others(5): Show 
HG01106.hp2
HG01167.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03540.hp1
NA19030.hp2
 intron_variant MODIFIER c.304-7974_304-7973d
others(4): Show 
c.304-7974_304-7973delTT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13064271
chr20:13064279 T
T
 TTTG
TTTG
 61 a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
others(58): Show 
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0233
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0252
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0014g0074
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0004t0017g0205
a0004c0008t0028g0276
a0006c0016t0064g0248
a0008c0015t0002g0050
 61 HG00438.hp1
HG00609.hp1
HG00741.hp2
others(58): Show 
HG00438.hp1
HG00609.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01243.hp1
HG01243.hp2
HG01515.hp2
HG01516.hp1
HG01891.hp2
HG01952.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02258.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02630.hp1
HG02809.hp2
HG03209.hp2
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18973.hp2
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19012.hp1
NA19062.hp2
NA19063.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.304-7975_304-7974i
others(5): Show 
c.304-7975_304-7974insGTT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13064279
chr20:13064279 T
T
 TTTTG
TTTTG
 8 a0001c0001t0003g0072
a0001c0001t0004g0238
a0001c0001t0004g0266
others(5): Show 
a0001c0001t0003g0072
a0001c0001t0004g0238
a0001c0001t0004g0266
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0009t0011g0161
 8 HG00741.hp1
HG01884.hp2
HG02055.hp1
others(5): Show 
HG00741.hp1
HG01884.hp2
HG02055.hp1
HG02109.hp2
HG02622.hp2
HG02738.hp1
NA18522.hp1
NA20805.hp1
 intron_variant MODIFIER c.304-7974_304-7973i
others(6): Show 
c.304-7974_304-7973insGTTT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13064279
chr20:13064281 TTTGTTTT
others(19): Show 
TTTGTTTTGTTTTTGTTTTTGTTTTTG
 T
T
 110 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(107): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0009t0005g0186
a0001c0009t0005g0204
a0004c0008t0005g0140
a0007c0017t0013g0049
 110 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(107): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01975.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-7972_304-7947d
others(28): Show 
c.304-7972_304-7947delGTTTTGTTTTTGTTTTTGTTTTTGTT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13064281
chr20:13064282 TTGTTTTG
others(6): Show 
TTGTTTTGTTTTTG
 T
T
 21 a0001c0001t0001g0159
a0001c0001t0004g0226
a0001c0001t0015g0265
others(18): Show 
a0001c0001t0001g0159
a0001c0001t0004g0226
a0001c0001t0015g0265
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0014t0005g0083
 21 HG00140.hp1
HG00735.hp2
HG01123.hp2
others(18): Show 
HG00140.hp1
HG00735.hp2
HG01123.hp2
HG01258.hp2
HG01516.hp2
HG01891.hp1
HG01978.hp2
HG02145.hp2
HG02257.hp1
HG02280.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02896.hp1
HG02897.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp2
HG03491.hp1
HG06807.hp1
HG06807.hp2
 intron_variant MODIFIER c.304-7972_304-7960d
others(15): Show 
c.304-7972_304-7960delGTTTTGTTTTTGT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13064282
chr20:13064282 TTGTTTTG
others(18): Show 
TTGTTTTGTTTTTGTTTTTGTTTTTG
 T
T
 2 a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0122
a0001c0003t0005g0125
 2 NA18943.hp1
NA18960.hp2
NA18943.hp1
NA18960.hp2
 intron_variant MODIFIER c.304-7972_304-7948d
others(27): Show 
c.304-7972_304-7948delGTTTTGTTTTTGTTTTTGTTTTTGT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13064282
chr20:13064284 G
G
 GT
GT
 70 a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
others(67): Show 
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0014g0074
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0004t0017g0205
a0001c0009t0011g0161
a0004c0008t0028g0276
a0006c0016t0064g0248
a0008c0015t0002g0050
 70 HG00438.hp1
HG00609.hp1
HG00741.hp1
others(67): Show 
HG00438.hp1
HG00609.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01243.hp1
HG01243.hp2
HG01515.hp2
HG01516.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02109.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02258.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02738.hp1
HG02809.hp2
HG03209.hp2
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18973.hp2
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19012.hp1
NA19062.hp2
NA19063.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.304-7968dupT
c.304-7968dupT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13064284
chr20:13064284 GTTTTGTT
others(5): Show 
GTTTTGTTTTTGT
 G
G
 2 a0001c0001t0021g0064
a0005c0011t0023g0166
a0001c0001t0021g0064
a0005c0011t0023g0166
 2 HG02258.hp1
HG02451.hp1
HG02258.hp1
HG02451.hp1
 intron_variant MODIFIER c.304-7938_304-7927d
others(14): Show 
c.304-7938_304-7927delTGTTTTTGTTTT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13064284
chr20:13064284 GTTTTGTT
others(17): Show 
GTTTTGTTTTTGTTTTTGTTTTTGT
 G
G
 3 a0001c0005t0010g0231
a0001c0012t0023g0165
a0005c0010t0037g0167
a0001c0005t0010g0231
a0001c0012t0023g0165
a0005c0010t0037g0167
 3 HG01884.hp1
HG02622.hp1
HG02895.hp2
HG01884.hp1
HG02622.hp1
HG02895.hp2
 intron_variant MODIFIER c.304-7950_304-7927d
others(26): Show 
c.304-7950_304-7927delTGTTTTTGTTTTTGTTTTTGTTTT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13064284
chr20:13064290 T
T
 G
G
 3 a0001c0001t0004g0225
a0001c0003t0010g0236
a0001c0005t0047g0068
a0001c0001t0004g0225
a0001c0003t0010g0236
a0001c0005t0047g0068
 3 HG02615.hp2
NA21309.hp1
NA21309.hp2
HG02615.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.304-7966T>G
c.304-7966T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13064290
chr20:13064296 T
T
 G
G
 21 a0001c0001t0001g0159
a0001c0001t0004g0226
a0001c0001t0015g0265
others(18): Show 
a0001c0001t0001g0159
a0001c0001t0004g0226
a0001c0001t0015g0265
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0014t0005g0083
 21 HG00140.hp1
HG00735.hp2
HG01123.hp2
others(18): Show 
HG00140.hp1
HG00735.hp2
HG01123.hp2
HG01258.hp2
HG01516.hp2
HG01891.hp1
HG01978.hp2
HG02145.hp2
HG02257.hp1
HG02280.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02896.hp1
HG02897.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp2
HG03491.hp1
HG06807.hp1
HG06807.hp2
 intron_variant MODIFIER c.304-7960T>G
c.304-7960T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13064296
chr20:13064307 G
G
 T
T
 1 a0001c0003t0049g0077
a0001c0003t0049g0077
 1 NA18961.hp2
NA18961.hp2
 intron_variant MODIFIER c.304-7949G>T
c.304-7949G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13064307
chr20:13064308 T
T
 G
G
 113 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(110): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0009t0005g0186
a0001c0009t0005g0204
a0004c0008t0005g0140
a0007c0017t0013g0049
 113 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(110): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01975.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-7948T>G
c.304-7948T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13064308
chr20:13064372 A
A
 G
G
 116 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(113): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0010g0231
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0012t0023g0165
a0004c0008t0005g0140
a0005c0010t0037g0167
a0007c0017t0013g0049
 116 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(113): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01975.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-7884A>G
c.304-7884A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13064372
chr20:13064412 A
A
 AC
AC
 9 a0001c0001t0001g0052
a0001c0001t0019g0053
a0001c0003t0010g0236
others(6): Show 
a0001c0001t0001g0052
a0001c0001t0019g0053
a0001c0003t0010g0236
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0005t0047g0068
 9 HG01106.hp2
HG02615.hp2
HG03195.hp1
others(6): Show 
HG01106.hp2
HG02615.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03540.hp1
NA19030.hp2
NA21309.hp2
 intron_variant MODIFIER c.304-7838dupC
c.304-7838dupC
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13064412
chr20:13064728 G
G
 A
A
 3 a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0019g0160
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0019g0160
 3 HG01167.hp2
HG03225.hp2
NA19240.hp1
HG01167.hp2
HG03225.hp2
NA19240.hp1
 intron_variant MODIFIER c.304-7528G>A
c.304-7528G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13064728
chr20:13064789 A
A
 G
G
 214 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(211): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0012t0023g0165
a0001c0014t0005g0083
a0004c0008t0005g0140
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 214 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(211): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18990.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.304-7467A>G
c.304-7467A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13064789
chr20:13064910 T
T
 C
C
 116 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(113): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0010g0231
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0012t0023g0165
a0004c0008t0005g0140
a0005c0010t0037g0167
a0007c0017t0013g0049
 116 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(113): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01975.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-7346T>C
c.304-7346T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13064910
chr20:13065060 A
A
 G
G
 1 a0001c0003t0012g0262
a0001c0003t0012g0262
 1 HG01109.hp2
HG01109.hp2
 intron_variant MODIFIER c.304-7196A>G
c.304-7196A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13065060
chr20:13065078 A
A
 G
G
 1 a0001c0005t0016g0147
a0001c0005t0016g0147
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.304-7178A>G
c.304-7178A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13065078
chr20:13065145 A
A
 T
T
 116 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(113): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0010g0231
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0012t0023g0165
a0004c0008t0005g0140
a0005c0010t0037g0167
a0007c0017t0013g0049
 116 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(113): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01975.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-7111A>T
c.304-7111A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13065145
chr20:13065247 G
G
 A
A
 3 a0001c0001t0012g0259
a0001c0003t0012g0258
a0001c0003t0058g0257
a0001c0001t0012g0259
a0001c0003t0012g0258
a0001c0003t0058g0257
 3 HG02280.hp1
HG03540.hp2
NA19043.hp1
HG02280.hp1
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.304-7009G>A
c.304-7009G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13065247
chr20:13065265 G
G
 GT
GT
 98 a0001c0001t0001g0052
a0001c0001t0001g0159
a0001c0001t0001g0173
others(95): Show 
a0001c0001t0001g0052
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0252
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0014g0074
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0265
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0004t0017g0205
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0014t0005g0083
a0002c0006t0005g0171
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0008c0015t0002g0050
 98 HG00140.hp1
HG00438.hp1
HG00609.hp1
others(95): Show 
HG00140.hp1
HG00438.hp1
HG00609.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01258.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03540.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18949.hp1
NA18956.hp1
NA18959.hp1
NA18973.hp2
NA18985.hp1
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19012.hp1
NA19030.hp2
NA19062.hp2
NA19063.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.304-6975dupT
c.304-6975dupT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13065265
chr20:13065265 GT
GT
 G
G
 113 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(110): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0009t0005g0186
a0001c0009t0005g0204
a0004c0008t0005g0140
a0007c0017t0013g0049
 113 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(110): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01975.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-6975delT
c.304-6975delT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13065265
chr20:13065281 T
T
 C
C
 116 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(113): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0010g0231
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0012t0023g0165
a0004c0008t0005g0140
a0005c0010t0037g0167
a0007c0017t0013g0049
 116 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(113): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01975.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-6975T>C
c.304-6975T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13065281
chr20:13065301 C
C
 G
G
 65 a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
others(62): Show 
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0252
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0014g0074
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0019g0160
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0004t0017g0205
a0004c0008t0028g0276
a0006c0016t0064g0248
a0008c0015t0002g0050
 65 HG00438.hp1
HG00609.hp1
HG00741.hp1
others(62): Show 
HG00438.hp1
HG00609.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01515.hp2
HG01516.hp1
HG01891.hp2
HG01952.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02258.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02630.hp1
HG02647.hp2
HG02738.hp1
HG02809.hp2
HG03209.hp2
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18973.hp2
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19012.hp1
NA19062.hp2
NA19063.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.304-6955C>G
c.304-6955C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13065301
chr20:13065371 C
C
 G
G
 116 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(113): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0010g0231
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0012t0023g0165
a0004c0008t0005g0140
a0005c0010t0037g0167
a0007c0017t0013g0049
 116 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(113): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01975.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-6885C>G
c.304-6885C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13065371
chr20:13065372 T
T
 C
C
 116 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(113): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0010g0231
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0012t0023g0165
a0004c0008t0005g0140
a0005c0010t0037g0167
a0007c0017t0013g0049
 116 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(113): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01975.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-6884T>C
c.304-6884T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13065372
chr20:13065389 T
T
 G
G
 98 a0001c0001t0001g0052
a0001c0001t0001g0159
a0001c0001t0001g0173
others(95): Show 
a0001c0001t0001g0052
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0252
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0014g0074
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0265
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0004t0017g0205
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0014t0005g0083
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0008c0015t0002g0050
 98 HG00140.hp1
HG00438.hp1
HG00609.hp1
others(95): Show 
HG00140.hp1
HG00438.hp1
HG00609.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01258.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03540.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18973.hp2
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19012.hp1
NA19030.hp2
NA19062.hp2
NA19063.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.304-6867T>G
c.304-6867T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13065389
chr20:13065416 C
C
 T
T
 116 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(113): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0010g0231
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0012t0023g0165
a0004c0008t0005g0140
a0005c0010t0037g0167
a0007c0017t0013g0049
 116 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(113): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01975.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-6840C>T
c.304-6840C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13065416
chr20:13065425 G
G
 A
A
 1 a0005c0010t0037g0167
a0005c0010t0037g0167
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.304-6831G>A
c.304-6831G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13065425
chr20:13065456 G
G
 A
A
 65 a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
others(62): Show 
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0252
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0014g0074
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0019g0160
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0004t0017g0205
a0004c0008t0028g0276
a0006c0016t0064g0248
a0008c0015t0002g0050
 65 HG00438.hp1
HG00609.hp1
HG00741.hp1
others(62): Show 
HG00438.hp1
HG00609.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01515.hp2
HG01516.hp1
HG01891.hp2
HG01952.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02258.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02630.hp1
HG02647.hp2
HG02738.hp1
HG02809.hp2
HG03209.hp2
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18973.hp2
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19012.hp1
NA19062.hp2
NA19063.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.304-6800G>A
c.304-6800G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13065456
chr20:13065464 T
T
 C
C
 2 a0001c0005t0010g0231
a0001c0012t0023g0165
a0001c0005t0010g0231
a0001c0012t0023g0165
 2 HG02622.hp1
HG02895.hp2
HG02622.hp1
HG02895.hp2
 intron_variant MODIFIER c.304-6792T>C
c.304-6792T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13065464
chr20:13065565 T
T
 G
G
 116 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(113): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0010g0231
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0012t0023g0165
a0004c0008t0005g0140
a0005c0010t0037g0167
a0007c0017t0013g0049
 116 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(113): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01975.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-6691T>G
c.304-6691T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13065565
chr20:13065667 T
T
 G
G
 116 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(113): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0010g0231
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0012t0023g0165
a0004c0008t0005g0140
a0005c0010t0037g0167
a0007c0017t0013g0049
 116 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(113): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01975.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-6589T>G
c.304-6589T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13065667
chr20:13065670 T
T
 G
G
 98 a0001c0001t0001g0052
a0001c0001t0001g0159
a0001c0001t0001g0173
others(95): Show 
a0001c0001t0001g0052
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0252
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0014g0074
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0265
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0004t0017g0205
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0014t0005g0083
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0008c0015t0002g0050
 98 HG00140.hp1
HG00438.hp1
HG00609.hp1
others(95): Show 
HG00140.hp1
HG00438.hp1
HG00609.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01258.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03540.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18973.hp2
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19012.hp1
NA19030.hp2
NA19062.hp2
NA19063.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.304-6586T>G
c.304-6586T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13065670
chr20:13065706 TCTC
TCTC
 T
T
 116 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(113): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0010g0231
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0012t0023g0165
a0004c0008t0005g0140
a0005c0010t0037g0167
a0007c0017t0013g0049
 116 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(113): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01975.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-6547_304-6545d
others(5): Show 
c.304-6547_304-6545delCCT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13065706
chr20:13065730 G
G
 A
A
 1 a0001c0001t0001g0093
a0001c0001t0001g0093
 1 HG00621.hp2
HG00621.hp2
 intron_variant MODIFIER c.304-6526G>A
c.304-6526G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13065730
chr20:13065788 T
T
 C
C
 116 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(113): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0010g0231
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0012t0023g0165
a0004c0008t0005g0140
a0005c0010t0037g0167
a0007c0017t0013g0049
 116 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(113): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01975.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-6468T>C
c.304-6468T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13065788
chr20:13065803 A
A
 T
T
 116 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(113): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0010g0231
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0012t0023g0165
a0004c0008t0005g0140
a0005c0010t0037g0167
a0007c0017t0013g0049
 116 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(113): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01975.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-6453A>T
c.304-6453A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13065803
chr20:13065835 T
T
 A
A
 2 a0001c0005t0010g0231
a0001c0012t0023g0165
a0001c0005t0010g0231
a0001c0012t0023g0165
 2 HG02622.hp1
HG02895.hp2
HG02622.hp1
HG02895.hp2
 intron_variant MODIFIER c.304-6421T>A
c.304-6421T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13065835
chr20:13065837 T
T
 C
C
 116 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(113): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0010g0231
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0012t0023g0165
a0004c0008t0005g0140
a0005c0010t0037g0167
a0007c0017t0013g0049
 116 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(113): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01975.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-6419T>C
c.304-6419T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13065837
chr20:13065845 T
T
 C
C
 1 a0001c0001t0001g0115
a0001c0001t0001g0115
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.304-6411T>C
c.304-6411T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13065845
chr20:13065852 A
A
 G
G
 1 a0001c0003t0010g0236
a0001c0003t0010g0236
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.304-6404A>G
c.304-6404A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13065852
chr20:13065884 A
A
 G
G
 116 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(113): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0010g0231
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0012t0023g0165
a0004c0008t0005g0140
a0005c0010t0037g0167
a0007c0017t0013g0049
 116 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(113): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01975.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-6372A>G
c.304-6372A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13065884
chr20:13065907 T
T
 TCTTCCTT
others(1139): Show 
TCTTCCTTTTTTTGGTGAGAACATTTAGGATCTACTTTCTTATTAATTTC
AAGTATACAATATATTATTAACTACAGTCACCATGCTGTACATTAGGTCT
CCAGAAATTATTCATACTACATAATTGCAACGTTGTACCCTTTGACAAGT
ATCCCCCTATTTTCACCATGCCCCCAGGCCTGGCAACCACCATTCTACTC
TCTGCTCCTATGATTTCAATGTTTTTAGATTTCACACGTAAGTGAGATCA
TATGGTATTTGTCTTTCTTATTTCCCTTAGTATAAAGTCCTCCAGATGCA
TCCATGTTGTTGCAAATGTCCTCTTTTAAGCCTGAAGGGTATTCCATTGT
GTATGAATACCATATTTCTTTATCCATTCATCTATGATGGACACTTGGGT
TGTTTACATATCTTGTCTATTGTGAGTAATGCTACAATAAACACAGGAGT
GCAAATATCTCTTGGAGATAGTGATGTCATTTACTTTGGATATACACCAA
GAAGTGAGATTGCTACATCATATGGTAGTTCCATTTTTAAATTTTTTTGG
AACCTCCATATTGTTTTTCATAACGGCTTCATCAATTTACCTTCCCACCA
TCAGTGAACAAGAGTTCCCTTTTCTCCACAAGAGTTCTTTTCTTGTCTTT
TTAATAAGGTCCATTCTCACAGATAAGAGGTGATTTCTCATTGTGGTTTT
CATTTGCATTTCCCTGATGATTTGTGACACTGACCTATTTTTAATATACC
TGTTGGCCATTTGTATGTCTTTTTTGAGAAATATCTGTTTGGGTCTCTTG
CCCATTTTTTAATCAAGTTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT
TGCTACTGAATTGTTTGGATTCCTTATGTATTCTGAGTAATAACACCTTA
TAAGATATGGTTTGCAAATATTTTCTCCCATTCTGTAGGTTGCCTCTTCA
CTCTGTTTATTATTTCCTTTGTTGTGAAGAAACTTTTTAATTTGATGCAA
TTCCATTTTTTGGTTTTTTTTTTTTTTTTGGTTTTGTTTTTGTTGCCTGT
GTTTTGAGATCATAGCAAAAAATTCACTGCCCAGATCAATGTCAAGATTT
TTCCCTAAGTTTCTTTCTAATAGTTTCACATAGTTACCTTTTTCTTC
 3 a0001c0001t0012g0259
a0001c0003t0012g0258
a0001c0003t0058g0257
a0001c0001t0012g0259
a0001c0003t0012g0258
a0001c0003t0058g0257
 3 HG02280.hp1
HG03540.hp2
NA19043.hp1
HG02280.hp1
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.304-6276_304-6275i
others(1148): Show 
c.304-6276_304-6275insCAGTCACCATGCTGTACATTAGGTCTCC
AGAAATTATTCATACTACATAATTGCAACGTTGTACCCTTTGACAAGTAT
CCCCCTATTTTCACCATGCCCCCAGGCCTGGCAACCACCATTCTACTCTC
TGCTCCTATGATTTCAATGTTTTTAGATTTCACACGTAAGTGAGATCATA
TGGTATTTGTCTTTCTTATTTCCCTTAGTATAAAGTCCTCCAGATGCATC
CATGTTGTTGCAAATGTCCTCTTTTAAGCCTGAAGGGTATTCCATTGTGT
ATGAATACCATATTTCTTTATCCATTCATCTATGATGGACACTTGGGTTG
TTTACATATCTTGTCTATTGTGAGTAATGCTACAATAAACACAGGAGTGC
AAATATCTCTTGGAGATAGTGATGTCATTTACTTTGGATATACACCAAGA
AGTGAGATTGCTACATCATATGGTAGTTCCATTTTTAAATTTTTTTGGAA
CCTCCATATTGTTTTTCATAACGGCTTCATCAATTTACCTTCCCACCATC
AGTGAACAAGAGTTCCCTTTTCTCCACAAGAGTTCTTTTCTTGTCTTTTT
AATAAGGTCCATTCTCACAGATAAGAGGTGATTTCTCATTGTGGTTTTCA
TTTGCATTTCCCTGATGATTTGTGACACTGACCTATTTTTAATATACCTG
TTGGCCATTTGTATGTCTTTTTTGAGAAATATCTGTTTGGGTCTCTTGCC
CATTTTTTAATCAAGTTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTG
CTACTGAATTGTTTGGATTCCTTATGTATTCTGAGTAATAACACCTTATA
AGATATGGTTTGCAAATATTTTCTCCCATTCTGTAGGTTGCCTCTTCACT
CTGTTTATTATTTCCTTTGTTGTGAAGAAACTTTTTAATTTGATGCAATT
CCATTTTTTGGTTTTTTTTTTTTTTTTGGTTTTGTTTTTGTTGCCTGTGT
TTTGAGATCATAGCAAAAAATTCACTGCCCAGATCAATGTCAAGATTTTT
CCCTAAGTTTCTTTCTAATAGTTTCACATAGTTACCTTTTTCTTCCTTCC
TTTTTTTGGTGAGAACATTTAGGATCTACTTTCTTATTAATTTCAAGTAT
ACAATATATTATTAACTA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13065907
chr20:13065907 T
T
 TCTTCCTT
others(1141): Show 
TCTTCCTTTTTTTGGTGAGAACATTTAGGATCTACTTTCTTATTAATTTC
AAGTATACAATATATTATTAACTACAGTCACCATGCTGTACATTAGGTCT
CCAGAAATTATTCATACTACATAATTGCAACGTTGTACCCTTTGACAAGT
ATCCCCCTATTTTCACCATGCCCCCAGGCCTGGCAACCACCATTCTACTC
TCTGCTCCTATGATTTCAATGTTTTTAGATTTCACACGTAAGTGAGATCA
TATGGTATTTGTCTTTCTTATTTCCCTTAGTATAAAGTCCTCCAGATGCA
TCCATGTTGTTGCAAATGTCCTCTTTTAAGCCTGAAGGGTATTCCATTGT
GTATGAATACCATATTTCTTTATCCATTCATCTATGATGGACACTTGGGT
TGTTTACATATCTTGTCTATTGTGAGTAATGCTACAATAAACACAGGAGT
GCAAATATCTCTTGGAGATAGTGATGTCATTTACTTTGGATATACACCAA
GAAGTGAGATTGCTACATCATATGGTAGTTCCATTTTTAAATTTTTTTGG
AACCTCCATATTGTTTTTCATAACGGCTTCATCAATTTACCTTCCCACCA
TCAGTGAACAAGAGTTCCCTTTTCTCCACAAGAGTTCTTTTCTTGTCTTT
TTAATAAGGTCCATTCTCACAGATAAGAGGTGATTTCTCATTGTGGTTTT
CATTTGCATTTCCCTGATGATTTGTGACACTGACCTATTTTTAATATACC
TGTTGGTCATTTGTATGTCTTTTTTGAGAAATATCTGTTTGGGTCTCTTG
CCCATTTTTTAATCAAGTTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT
TGCTACTGAATTGTTTGGATTCCTTATGTATTCTGAGTAATAACACCTTA
TAAGATATATGGTTTGCAAATATTTTCTCCCATTCTGTAGGTTGCCTCTT
CACTCTGTTTATTATTTCCTTTGTTGTGAAGAAACTTTTTAATTTGATGC
AATTCCATTTTTTGGTTTTTTTTTTTTTTTTGGTTTTGTTTTTGTTGCCT
GTGTTTTGAGATCATAGCAAAAAATTCACTGCCCAGATCAATGTCAAGAT
TTTTCCCTAAGTTTCTTTCTAATAGTTTCACATAGTTACCTTTTTCTTC
 38 a0001c0001t0001g0110
a0001c0001t0001g0149
a0001c0001t0001g0150
others(35): Show 
a0001c0001t0001g0110
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0112
a0001c0001t0003g0157
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0009g0111
a0001c0001t0013g0060
a0001c0001t0020g0138
a0001c0001t0038g0189
a0001c0001t0051g0075
a0001c0001t0059g0290
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0009t0005g0186
a0001c0009t0005g0204
a0007c0017t0013g0049
 38 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(35): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp2
HG00639.hp1
HG00738.hp1
HG01106.hp1
HG01109.hp1
HG01167.hp1
HG01346.hp2
HG01358.hp2
HG01496.hp1
HG02071.hp1
HG02809.hp1
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03130.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03669.hp2
HG04199.hp1
HG04204.hp1
NA18948.hp1
NA18957.hp1
NA18970.hp2
NA18982.hp1
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA19030.hp1
NA19060.hp2
NA19066.hp2
NA19070.hp2
NA19074.hp1
 intron_variant MODIFIER c.304-6276_304-6275i
others(1150): Show 
c.304-6276_304-6275insCAGTCACCATGCTGTACATTAGGTCTCC
AGAAATTATTCATACTACATAATTGCAACGTTGTACCCTTTGACAAGTAT
CCCCCTATTTTCACCATGCCCCCAGGCCTGGCAACCACCATTCTACTCTC
TGCTCCTATGATTTCAATGTTTTTAGATTTCACACGTAAGTGAGATCATA
TGGTATTTGTCTTTCTTATTTCCCTTAGTATAAAGTCCTCCAGATGCATC
CATGTTGTTGCAAATGTCCTCTTTTAAGCCTGAAGGGTATTCCATTGTGT
ATGAATACCATATTTCTTTATCCATTCATCTATGATGGACACTTGGGTTG
TTTACATATCTTGTCTATTGTGAGTAATGCTACAATAAACACAGGAGTGC
AAATATCTCTTGGAGATAGTGATGTCATTTACTTTGGATATACACCAAGA
AGTGAGATTGCTACATCATATGGTAGTTCCATTTTTAAATTTTTTTGGAA
CCTCCATATTGTTTTTCATAACGGCTTCATCAATTTACCTTCCCACCATC
AGTGAACAAGAGTTCCCTTTTCTCCACAAGAGTTCTTTTCTTGTCTTTTT
AATAAGGTCCATTCTCACAGATAAGAGGTGATTTCTCATTGTGGTTTTCA
TTTGCATTTCCCTGATGATTTGTGACACTGACCTATTTTTAATATACCTG
TTGGTCATTTGTATGTCTTTTTTGAGAAATATCTGTTTGGGTCTCTTGCC
CATTTTTTAATCAAGTTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTG
CTACTGAATTGTTTGGATTCCTTATGTATTCTGAGTAATAACACCTTATA
AGATATATGGTTTGCAAATATTTTCTCCCATTCTGTAGGTTGCCTCTTCA
CTCTGTTTATTATTTCCTTTGTTGTGAAGAAACTTTTTAATTTGATGCAA
TTCCATTTTTTGGTTTTTTTTTTTTTTTTGGTTTTGTTTTTGTTGCCTGT
GTTTTGAGATCATAGCAAAAAATTCACTGCCCAGATCAATGTCAAGATTT
TTCCCTAAGTTTCTTTCTAATAGTTTCACATAGTTACCTTTTTCTTCCTT
CCTTTTTTTGGTGAGAACATTTAGGATCTACTTTCTTATTAATTTCAAGT
ATACAATATATTATTAACTA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13065907
chr20:13065907 T
T
 TCTTCCTT
others(1142): Show 
TCTTCCTTTTTTTGGTGAGAACATTTAGGATCTACTTTCTTATTAATTTC
AAGTATACAATATATTATTAACTACAGTCACCATGCTGTACATTAGGTCT
CCAGAAATTATTCATACTACATAATTGCAACGTTGTACCCTTTGACAAGT
ATCCCCCTATTTTCACCATGCCCCCAGGCCTGGCAACCACCATTCTACTC
TCTGCTCCTATGATTTCAATGTTTTTAGATTTCACACGTAAGTGAGATCA
TATGGTATTTGTCTTTCTTATTTCCCTTAGTATAAAGTCCTCCAGATGCA
TCCATGTTGTTGCAAATGTCCTCTTTTAAGCCTGAAGGGTATTCCATTGT
GTATGAATACCATATTTCTTTATCCATTCATCTATGATGGACACTTGGGT
TGTTTACATATCTTGTCTATTGTGAGTAATGCTACAATAAACACAGGAGT
GCAAATATCTCTTGGAGATAGTGATGTCATTTACTTTGGATATACACCAA
GAAGTGAGATTGCTACATCATATGGTAGTTCCATTTTTAAATTTTTTTGG
AACCTCCATATTGTTTTTCATAACGGCTTCATCAATTTACCTTCCCACCA
TCAGTGAACAAGAGTTCCCTTTTCTCCACAAGAGTTCTTTTCTTGTCTTT
TTAATAAGGTCCATTCTCACAGATAAGAGGTGATTTCTCATTGTGGTTTT
CATTTGCATTTCCCTGATGATTTGTGACACTGACCTATTTTTAATATACC
TGTTGGTCATTTGTATGTCTTTTTTGAGAAATATCTGTTTGGGTCTCTTG
CCCATTTTTTAATCAAGTTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT
TGCTACTGAATTGTTTGGATTCCTTATGTATTCTGAGTAATAACACCTTA
TAAGATATATGGTTTGCAAATATTTTCTCCCATTCTGTAGGTTGCCTCTT
CACTCTGTTTATTATTTCCTTTGTTGTGAAGAAACTTTTTAATTTGATGC
AATTCCATTTTTTGGTTTTTTTTTTTTTTTTTGGTTTTGTTTTTGTTGCC
TGTGTTTTGAGATCATAGCAAAAAATTCACTGCCCAGATCAATGTCAAGA
TTTTTCCCTAAGTTTCTTTCTAATAGTTTCACATAGTTACCTTTTTCTTC
 2 a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0058
a0001c0001t0013g0059
 2 HG01258.hp1
HG01433.hp1
HG01258.hp1
HG01433.hp1
 intron_variant MODIFIER c.304-6276_304-6275i
others(1151): Show 
c.304-6276_304-6275insCAGTCACCATGCTGTACATTAGGTCTCC
AGAAATTATTCATACTACATAATTGCAACGTTGTACCCTTTGACAAGTAT
CCCCCTATTTTCACCATGCCCCCAGGCCTGGCAACCACCATTCTACTCTC
TGCTCCTATGATTTCAATGTTTTTAGATTTCACACGTAAGTGAGATCATA
TGGTATTTGTCTTTCTTATTTCCCTTAGTATAAAGTCCTCCAGATGCATC
CATGTTGTTGCAAATGTCCTCTTTTAAGCCTGAAGGGTATTCCATTGTGT
ATGAATACCATATTTCTTTATCCATTCATCTATGATGGACACTTGGGTTG
TTTACATATCTTGTCTATTGTGAGTAATGCTACAATAAACACAGGAGTGC
AAATATCTCTTGGAGATAGTGATGTCATTTACTTTGGATATACACCAAGA
AGTGAGATTGCTACATCATATGGTAGTTCCATTTTTAAATTTTTTTGGAA
CCTCCATATTGTTTTTCATAACGGCTTCATCAATTTACCTTCCCACCATC
AGTGAACAAGAGTTCCCTTTTCTCCACAAGAGTTCTTTTCTTGTCTTTTT
AATAAGGTCCATTCTCACAGATAAGAGGTGATTTCTCATTGTGGTTTTCA
TTTGCATTTCCCTGATGATTTGTGACACTGACCTATTTTTAATATACCTG
TTGGTCATTTGTATGTCTTTTTTGAGAAATATCTGTTTGGGTCTCTTGCC
CATTTTTTAATCAAGTTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTG
CTACTGAATTGTTTGGATTCCTTATGTATTCTGAGTAATAACACCTTATA
AGATATATGGTTTGCAAATATTTTCTCCCATTCTGTAGGTTGCCTCTTCA
CTCTGTTTATTATTTCCTTTGTTGTGAAGAAACTTTTTAATTTGATGCAA
TTCCATTTTTTGGTTTTTTTTTTTTTTTTTGGTTTTGTTTTTGTTGCCTG
TGTTTTGAGATCATAGCAAAAAATTCACTGCCCAGATCAATGTCAAGATT
TTTCCCTAAGTTTCTTTCTAATAGTTTCACATAGTTACCTTTTTCTTCCT
TCCTTTTTTTGGTGAGAACATTTAGGATCTACTTTCTTATTAATTTCAAG
TATACAATATATTATTAACTA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13065907
chr20:13065907 T
T
 TCTTCCTT
others(1139): Show 
TCTTCCTTTTTTTGGTGAGAACATTTAGGATCTACTTTCTTATTAATTTC
AAGTATACAATATATTATTAACTACAGTCACCATGCTGTACATTAGGTCT
CCAGAAATTATTCATACTACATAATTGCAACGTTGTACCCTTTGACAAGT
ATCCCCCTATTTTCACCATGCCCCCAGGCCTGGCAACCACCATTCTACTC
TCTGCTCCTATGATTTCAATGTTTTTAGATTTCACACGTAAGTGAGATCA
TATGGTATTTGTCTTTCTTATTTCCCTTAGTATAAAGTCCTCCAGATGCA
TCCATGTTGTTGCAAATGTCCTCTTTTAAGCCTGAAGGGTATTCCATTGT
GTATGAATACCATATTTCTTTATCCATTCATCTATGATGGACACTTGGGT
TGTTTACATATCTTGTCTATTGTGAGTAATGCTACAATAAACACAGGAGT
GCAAATATCTCTTGGAGATAGTGATGTCATTTACTTTGGATATACACCAA
GAAGTGAGATTGCTACATCATATGGTAGTTCCATTTTTAAATTTTTTTGG
AACCTCCATATTGTTTTTCATAACGGCTTCATCAATTTACCTTCCCACCA
TCAGTGAACAAGAGTTCCCTTTTCTCCACAAGAGTTCTTTTCTTGTCTTT
TTAATAAGGTCCATTCTCACAGATAAGAGGTGATTTCTCATTGTGGTTTT
CATTTGCATTTCCCTGATGATTTGTGACACTGACCTATTTTTAATATACC
TGTTGGTCATTTGTATGTCTTTTTTGAGAAATATCTGTTTGGGTCTCTTG
CCCATTTTTTAATCAAGTTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT
TGCTACTGAATTGTTTGGATTCCTTATGTATTCTGAGTAATAACACCTTA
TAAGATATGGTTTGCAAATATTTTCTCCCATTCTGTAGGTTGCCTCTTCA
CTCTGTTTATTATTTCCTTTGTTGTGAAGAAACTTTTTAATTTGATGCAA
TTCCATTTTTTGGTTTTTTTTTTTTTTTTGGTTTTGTTTTTGTTGCCTGT
GTTTTGAGATCATAGCAAAAAATTCACTGCCCAGATCAATGTCAAGATTT
TTCCCTAAGTTTCTTTCTAATAGTTTCACATAGTTACCTTTTTCTTC
 12 a0001c0001t0001g0292
a0001c0001t0004g0229
a0001c0001t0004g0288
others(9): Show 
a0001c0001t0001g0292
a0001c0001t0004g0229
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0007g0230
a0001c0001t0015g0264
a0001c0001t0027g0263
a0001c0001t0030g0261
a0001c0001t0063g0232
a0001c0003t0012g0262
a0001c0003t0032g0022
a0001c0003t0060g0267
 12 HG01109.hp2
HG02109.hp1
HG02615.hp1
others(9): Show 
HG01109.hp2
HG02109.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03139.hp2
HG03471.hp1
HG04199.hp2
NA19043.hp2
NA20300.hp1
 intron_variant MODIFIER c.304-6276_304-6275i
others(1148): Show 
c.304-6276_304-6275insCAGTCACCATGCTGTACATTAGGTCTCC
AGAAATTATTCATACTACATAATTGCAACGTTGTACCCTTTGACAAGTAT
CCCCCTATTTTCACCATGCCCCCAGGCCTGGCAACCACCATTCTACTCTC
TGCTCCTATGATTTCAATGTTTTTAGATTTCACACGTAAGTGAGATCATA
TGGTATTTGTCTTTCTTATTTCCCTTAGTATAAAGTCCTCCAGATGCATC
CATGTTGTTGCAAATGTCCTCTTTTAAGCCTGAAGGGTATTCCATTGTGT
ATGAATACCATATTTCTTTATCCATTCATCTATGATGGACACTTGGGTTG
TTTACATATCTTGTCTATTGTGAGTAATGCTACAATAAACACAGGAGTGC
AAATATCTCTTGGAGATAGTGATGTCATTTACTTTGGATATACACCAAGA
AGTGAGATTGCTACATCATATGGTAGTTCCATTTTTAAATTTTTTTGGAA
CCTCCATATTGTTTTTCATAACGGCTTCATCAATTTACCTTCCCACCATC
AGTGAACAAGAGTTCCCTTTTCTCCACAAGAGTTCTTTTCTTGTCTTTTT
AATAAGGTCCATTCTCACAGATAAGAGGTGATTTCTCATTGTGGTTTTCA
TTTGCATTTCCCTGATGATTTGTGACACTGACCTATTTTTAATATACCTG
TTGGTCATTTGTATGTCTTTTTTGAGAAATATCTGTTTGGGTCTCTTGCC
CATTTTTTAATCAAGTTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTG
CTACTGAATTGTTTGGATTCCTTATGTATTCTGAGTAATAACACCTTATA
AGATATGGTTTGCAAATATTTTCTCCCATTCTGTAGGTTGCCTCTTCACT
CTGTTTATTATTTCCTTTGTTGTGAAGAAACTTTTTAATTTGATGCAATT
CCATTTTTTGGTTTTTTTTTTTTTTTTGGTTTTGTTTTTGTTGCCTGTGT
TTTGAGATCATAGCAAAAAATTCACTGCCCAGATCAATGTCAAGATTTTT
CCCTAAGTTTCTTTCTAATAGTTTCACATAGTTACCTTTTTCTTCCTTCC
TTTTTTTGGTGAGAACATTTAGGATCTACTTTCTTATTAATTTCAAGTAT
ACAATATATTATTAACTA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13065907
chr20:13065907 T
T
 TCTTCCTT
others(1140): Show 
TCTTCCTTTTTTTGGTGAGAACATTTAGGATCTACTTTCTTATTAATTTC
AAGTATACAATATATTATTAACTACAGTCACCATGCTGTACATTAGGTCT
CCAGAAATTATTCATACTACATAATTGCAACGTTGTACCCTTTGACAAGT
ATCCCCCTATTTTCACCATGCCCCCAGGCCTGGCAACCACCATTCTACTC
TCTGCTCCTATGATTTCAATGTTTTTAGATTTCACACGTAAGTGAGATCA
TATGGTATTTGTCTTTCTTATTTCCCTTAGTATAAAGTCCTCCAGATGCA
TCCATGTTGTTGCAAATGTCCTCTTTTAAGCCTGAAGGGTATTCCATTGT
GTATGAATACCATATTTCTTTATCCATTCATCTATGATGGACACTTGGGT
TGTTTACATATCTTGTCTATTGTGAGTAATGCTACAATAAACACAGGAGT
GCAAATATCTCTTGGAGATAGTGATGTCATTTACTTTGGATATACACCAA
GAAGTGAGATTGCTACATCATATGGTAGTTCCATTTTTAAATTTTTTTGG
AACCTCCATATTGTTTTTCATAACGGCTTCATCAATTTACCTTCCCACCA
TCAGTGAACAAGAGTTCCCTTTTCTCCACAAGAGTTCTTTTCTTGTCTTT
TTAATAAGGTCCATTCTCACAGATAAGAGGTGATTTCTCATTGTGGTTTT
CATTTGCATTTCCCTGATGATTTGTGACACTGACCTATTTTTAATATACC
TGTTGGTCATTTGTATGTCTTTTTTGAGAAATATCTGTTTGGGTCTCTTG
CCCATTTTTTAATCAAGTTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT
TGCTACTGAATTGTTTGGATTCCTTATGTATTCTGAGTAATAACACCTTA
TAAGATATGGTTTGCAAATATTTTCTCCCATTCTGTAGGTTGCCTCTTCA
CTCTGTTTATTATTTCCTTTGTTGTGAAGAAACTTTTTAATTTGATGCAA
TTCCATTTTTTGGTTTTTTTTTTTTTTTTTGGTTTTGTTTTTGTTGCCTG
TGTTTTGAGATCATAGCAAAAAATTCACTGCCCAGATCAATGTCAAGATT
TTTCCCTAAGTTTCTTTCTAATAGTTTCACATAGTTACCTTTTTCTTC
 1 a0001c0001t0027g0268
a0001c0001t0027g0268
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.304-6276_304-6275i
others(1149): Show 
c.304-6276_304-6275insCAGTCACCATGCTGTACATTAGGTCTCC
AGAAATTATTCATACTACATAATTGCAACGTTGTACCCTTTGACAAGTAT
CCCCCTATTTTCACCATGCCCCCAGGCCTGGCAACCACCATTCTACTCTC
TGCTCCTATGATTTCAATGTTTTTAGATTTCACACGTAAGTGAGATCATA
TGGTATTTGTCTTTCTTATTTCCCTTAGTATAAAGTCCTCCAGATGCATC
CATGTTGTTGCAAATGTCCTCTTTTAAGCCTGAAGGGTATTCCATTGTGT
ATGAATACCATATTTCTTTATCCATTCATCTATGATGGACACTTGGGTTG
TTTACATATCTTGTCTATTGTGAGTAATGCTACAATAAACACAGGAGTGC
AAATATCTCTTGGAGATAGTGATGTCATTTACTTTGGATATACACCAAGA
AGTGAGATTGCTACATCATATGGTAGTTCCATTTTTAAATTTTTTTGGAA
CCTCCATATTGTTTTTCATAACGGCTTCATCAATTTACCTTCCCACCATC
AGTGAACAAGAGTTCCCTTTTCTCCACAAGAGTTCTTTTCTTGTCTTTTT
AATAAGGTCCATTCTCACAGATAAGAGGTGATTTCTCATTGTGGTTTTCA
TTTGCATTTCCCTGATGATTTGTGACACTGACCTATTTTTAATATACCTG
TTGGTCATTTGTATGTCTTTTTTGAGAAATATCTGTTTGGGTCTCTTGCC
CATTTTTTAATCAAGTTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTG
CTACTGAATTGTTTGGATTCCTTATGTATTCTGAGTAATAACACCTTATA
AGATATGGTTTGCAAATATTTTCTCCCATTCTGTAGGTTGCCTCTTCACT
CTGTTTATTATTTCCTTTGTTGTGAAGAAACTTTTTAATTTGATGCAATT
CCATTTTTTGGTTTTTTTTTTTTTTTTTGGTTTTGTTTTTGTTGCCTGTG
TTTTGAGATCATAGCAAAAAATTCACTGCCCAGATCAATGTCAAGATTTT
TCCCTAAGTTTCTTTCTAATAGTTTCACATAGTTACCTTTTTCTTCCTTC
CTTTTTTTGGTGAGAACATTTAGGATCTACTTTCTTATTAATTTCAAGTA
TACAATATATTATTAACTA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13065907
chr20:13065907 T
T
 TCTTCCTT
others(1136): Show 
TCTTCCTTTTTTTGGTGAGAACATTTAGGATCTACTTTCTTATTAATTTC
AAGTATACAATATATTATTAACTACAGTCACCATGCTGTACATTAGGTCT
CCAGAAATTATTCATACTACATAATTGCAACGTTGTACCCTTTGACAAGT
ATCCCCCTATTTTCACCATGCCCCCAGGCCTGGCAACCACCATTCTACTC
TCTGCTCCTATGATTTCAATGTTTTTAGATTTCACACGTAAGTGAGATCA
TATGGTATTTGTCTTTCTTATTTCCCTTAGTATAAAGTCCTCCAGATGCA
TCCATGTTGTTGCAAATGTCCTCTTTTAAGCCTGAAGGGTATTCCATTGT
GTATGAATACCATATTTCTTTATCCATTCATCTATGATGGACACTTGGGT
TGTTTACATATCTTGTCTATTGTGAGTAATGCTACAATAAACACAGGAGT
GCAAATATCTCTTGGAGATAGTGATGTCATTTACTTTGGATATACACCAA
GAAGTGAGATTGCTACATCATATGGTAGTTCCATTTTTAAATTTTTTTGG
AACCTCCATATTGTTTTTCATAACGGCTTCATCAATTTACCTTCCCACCA
TCAGTGAACAAGAGTTCCCTTTTCTCCACAAGAGTTCTTTTCTTGTCTTT
TTAATAAGGTCCATTCTCACAGATAAGAGGTGATTTCTCATTGTGGTTTT
CATTTGCATTTCCCTGATGATTTGTGACACTGACCTATTTTTAATATACC
TGTTGGTCATTTGTATGTCTTTTTTGAGAAATATCTGTTTGGGTCTCTTG
CCCATTTTTTAATCAAGTTTTTGTTTGTTTGTTTGTTTGTTTGTTTTGCT
ACTGAATTGTTTGGATTCCTTATGTATTCTGAGTAATAACACCTTATAAG
ATATATGGTTTGCAAATATTTTCTCCCATTCTGTAGGTTGCCTCTTCACT
CTGTTTATTATTTCCTTTGTTGTGAAGAAACTTTTTAATTTGATGCAATT
CCATTTTTTGGTTTTTTTTTTTTTTTGGTTTTGTTTTTGTTGCCTGTGTT
TTGAGATCATAGCAAAAAATTCACTGCCCAGATCAATGTCAAGATTTTTC
CCTAAGTTTCTTTCTAATAGTTTCACATAGTTACCTTTTTCTTC
 2 a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0126
a0001c0001t0003g0131
 2 NA18982.hp2
NA20300.hp2
NA18982.hp2
NA20300.hp2
 intron_variant MODIFIER c.304-6276_304-6275i
others(1145): Show 
c.304-6276_304-6275insCAGTCACCATGCTGTACATTAGGTCTCC
AGAAATTATTCATACTACATAATTGCAACGTTGTACCCTTTGACAAGTAT
CCCCCTATTTTCACCATGCCCCCAGGCCTGGCAACCACCATTCTACTCTC
TGCTCCTATGATTTCAATGTTTTTAGATTTCACACGTAAGTGAGATCATA
TGGTATTTGTCTTTCTTATTTCCCTTAGTATAAAGTCCTCCAGATGCATC
CATGTTGTTGCAAATGTCCTCTTTTAAGCCTGAAGGGTATTCCATTGTGT
ATGAATACCATATTTCTTTATCCATTCATCTATGATGGACACTTGGGTTG
TTTACATATCTTGTCTATTGTGAGTAATGCTACAATAAACACAGGAGTGC
AAATATCTCTTGGAGATAGTGATGTCATTTACTTTGGATATACACCAAGA
AGTGAGATTGCTACATCATATGGTAGTTCCATTTTTAAATTTTTTTGGAA
CCTCCATATTGTTTTTCATAACGGCTTCATCAATTTACCTTCCCACCATC
AGTGAACAAGAGTTCCCTTTTCTCCACAAGAGTTCTTTTCTTGTCTTTTT
AATAAGGTCCATTCTCACAGATAAGAGGTGATTTCTCATTGTGGTTTTCA
TTTGCATTTCCCTGATGATTTGTGACACTGACCTATTTTTAATATACCTG
TTGGTCATTTGTATGTCTTTTTTGAGAAATATCTGTTTGGGTCTCTTGCC
CATTTTTTAATCAAGTTTTTGTTTGTTTGTTTGTTTGTTTGTTTTGCTAC
TGAATTGTTTGGATTCCTTATGTATTCTGAGTAATAACACCTTATAAGAT
ATATGGTTTGCAAATATTTTCTCCCATTCTGTAGGTTGCCTCTTCACTCT
GTTTATTATTTCCTTTGTTGTGAAGAAACTTTTTAATTTGATGCAATTCC
ATTTTTTGGTTTTTTTTTTTTTTTGGTTTTGTTTTTGTTGCCTGTGTTTT
GAGATCATAGCAAAAAATTCACTGCCCAGATCAATGTCAAGATTTTTCCC
TAAGTTTCTTTCTAATAGTTTCACATAGTTACCTTTTTCTTCCTTCCTTT
TTTTGGTGAGAACATTTAGGATCTACTTTCTTATTAATTTCAAGTATACA
ATATATTATTAACTA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13065907
chr20:13065907 T
T
 TCTTCCTT
others(1137): Show 
TCTTCCTTTTTTTGGTGAGAACATTTAGGATCTACTTTCTTATTAATTTC
AAGTATACAATATATTATTAACTACAGTCACCATGCTGTACATTAGGTCT
CCAGAAATTATTCATACTACATAATTGCAACGTTGTACCCTTTGACAAGT
ATCCCCCTATTTTCACCATGCCCCCAGGCCTGGCAACCACCATTCTACTC
TCTGCTCCTATGATTTCAATGTTTTTAGATTTCACACGTAAGTGAGATCA
TATGGTATTTGTCTTTCTTATTTCCCTTAGTATAAAGTCCTCCAGATGCA
TCCATGTTGTTGCAAATGTCCTCTTTTAAGCCTGAAGGGTATTCCATTGT
GTATGAATACCATATTTCTTTATCCATTCATCTATGATGGACACTTGGGT
TGTTTACATATCTTGTCTATTGTGAGTAATGCTACAATAAACACAGGAGT
GCAAATATCTCTTGGAGATAGTGATGTCATTTACTTTGGATATACACCAA
GAAGTGAGATTGCTACATCATATGGTAGTTCCATTTTTAAATTTTTTTGG
AACCTCCATATTGTTTTTCATAACGGCTTCATCAATTTACCTTCCCACCA
TCAGTGAACAAGAGTTCCCTTTTCTCCACAAGAGTTCTTTTCTTGTCTTT
TTAATAAGGTCCATTCTCACAGATAAGAGGTGATTTCTCATTGTGGTTTT
CATTTGCATTTCCCTGATGATTTGTGACACTGACCTATTTTTAATATACC
TGTTGGTCATTTGTATGTCTTTTTTGAGAAATATCTGTTTGGGTCTCTTG
CCCATTTTTTAATCAAGTTTTTGTTTGTTTGTTTGTTTGTTTGTTTTGCT
ACTGAATTGTTTGGATTCCTTATGTATTCTGAGTAATAACACCTTATAAG
ATATATGGTTTGCAAATATTTTCTCCCATTCTGTAGGTTGCCTCTTCACT
CTGTTTATTATTTCCTTTGTTGTGAAGAAACTTTTTAATTTGATGCAATT
CCATTTTTTGGTTTTTTTTTTTTTTTTGGTTTTGTTTTTGTTGCCTGTGT
TTTGAGATCATAGCAAAAAATTCACTGCCCAGATCAATGTCAAGATTTTT
CCCTAAGTTTCTTTCTAATAGTTTCACATAGTTACCTTTTTCTTC
 52 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(49): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0247
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0148
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0028g0249
a0001c0003t0041g0107
a0001c0003t0049g0077
a0004c0008t0005g0140
 52 HG00323.hp2
HG00408.hp1
HG00438.hp2
others(49): Show 
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00673.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01975.hp2
HG02080.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02602.hp1
HG03239.hp2
HG03654.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19063.hp2
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20752.hp2
 intron_variant MODIFIER c.304-6276_304-6275i
others(1146): Show 
c.304-6276_304-6275insCAGTCACCATGCTGTACATTAGGTCTCC
AGAAATTATTCATACTACATAATTGCAACGTTGTACCCTTTGACAAGTAT
CCCCCTATTTTCACCATGCCCCCAGGCCTGGCAACCACCATTCTACTCTC
TGCTCCTATGATTTCAATGTTTTTAGATTTCACACGTAAGTGAGATCATA
TGGTATTTGTCTTTCTTATTTCCCTTAGTATAAAGTCCTCCAGATGCATC
CATGTTGTTGCAAATGTCCTCTTTTAAGCCTGAAGGGTATTCCATTGTGT
ATGAATACCATATTTCTTTATCCATTCATCTATGATGGACACTTGGGTTG
TTTACATATCTTGTCTATTGTGAGTAATGCTACAATAAACACAGGAGTGC
AAATATCTCTTGGAGATAGTGATGTCATTTACTTTGGATATACACCAAGA
AGTGAGATTGCTACATCATATGGTAGTTCCATTTTTAAATTTTTTTGGAA
CCTCCATATTGTTTTTCATAACGGCTTCATCAATTTACCTTCCCACCATC
AGTGAACAAGAGTTCCCTTTTCTCCACAAGAGTTCTTTTCTTGTCTTTTT
AATAAGGTCCATTCTCACAGATAAGAGGTGATTTCTCATTGTGGTTTTCA
TTTGCATTTCCCTGATGATTTGTGACACTGACCTATTTTTAATATACCTG
TTGGTCATTTGTATGTCTTTTTTGAGAAATATCTGTTTGGGTCTCTTGCC
CATTTTTTAATCAAGTTTTTGTTTGTTTGTTTGTTTGTTTGTTTTGCTAC
TGAATTGTTTGGATTCCTTATGTATTCTGAGTAATAACACCTTATAAGAT
ATATGGTTTGCAAATATTTTCTCCCATTCTGTAGGTTGCCTCTTCACTCT
GTTTATTATTTCCTTTGTTGTGAAGAAACTTTTTAATTTGATGCAATTCC
ATTTTTTGGTTTTTTTTTTTTTTTTGGTTTTGTTTTTGTTGCCTGTGTTT
TGAGATCATAGCAAAAAATTCACTGCCCAGATCAATGTCAAGATTTTTCC
CTAAGTTTCTTTCTAATAGTTTCACATAGTTACCTTTTTCTTCCTTCCTT
TTTTTGGTGAGAACATTTAGGATCTACTTTCTTATTAATTTCAAGTATAC
AATATATTATTAACTA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13065907
chr20:13065907 T
T
 TCTTCCTT
others(1138): Show 
TCTTCCTTTTTTTGGTGAGAACATTTAGGATCTACTTTCTTATTAATTTC
AAGTATACAATATATTATTAACTACAGTCACCATGCTGTACATTAGGTCT
CCAGAAATTATTCATACTACATAATTGCAACGTTGTACCCTTTGACAAGT
ATCCCCCTATTTTCACCATGCCCCCAGGCCTGGCAACCACCATTCTACTC
TCTGCTCCTATGATTTCAATGTTTTTAGATTTCACACGTAAGTGAGATCA
TATGGTATTTGTCTTTCTTATTTCCCTTAGTATAAAGTCCTCCAGATGCA
TCCATGTTGTTGCAAATGTCCTCTTTTAAGCCTGAAGGGTATTCCATTGT
GTATGAATACCATATTTCTTTATCCATTCATCTATGATGGACACTTGGGT
TGTTTACATATCTTGTCTATTGTGAGTAATGCTACAATAAACACAGGAGT
GCAAATATCTCTTGGAGATAGTGATGTCATTTACTTTGGATATACACCAA
GAAGTGAGATTGCTACATCATATGGTAGTTCCATTTTTAAATTTTTTTGG
AACCTCCATATTGTTTTTCATAACGGCTTCATCAATTTACCTTCCCACCA
TCAGTGAACAAGAGTTCCCTTTTCTCCACAAGAGTTCTTTTCTTGTCTTT
TTAATAAGGTCCATTCTCACAGATAAGAGGTGATTTCTCATTGTGGTTTT
CATTTGCATTTCCCTGATGATTTGTGACACTGACCTATTTTTAATATACC
TGTTGGTCATTTGTATGTCTTTTTTGAGAAATATCTGTTTGGGTCTCTTG
CCCATTTTTTAATCAAGTTTTTGTTTGTTTGTTTGTTTGTTTGTTTTGCT
ACTGAATTGTTTGGATTCCTTATGTATTCTGAGTAATAACACCTTATAAG
ATATATGGTTTGCAAATATTTTCTCCCATTCTGTAGGTTGCCTCTTCACT
CTGTTTATTATTTCCTTTGTTGTGAAGAAACTTTTTAATTTGATGCAATT
CCATTTTTTGGTTTTTTTTTTTTTTTTTGGTTTTGTTTTTGTTGCCTGTG
TTTTGAGATCATAGCAAAAAATTCACTGCCCAGATCAATGTCAAGATTTT
TCCCTAAGTTTCTTTCTAATAGTTTCACATAGTTACCTTTTTCTTC
 2 a0001c0001t0001g0141
a0001c0001t0018g0090
a0001c0001t0001g0141
a0001c0001t0018g0090
 2 HG00140.hp2
HG00642.hp1
HG00140.hp2
HG00642.hp1
 intron_variant MODIFIER c.304-6276_304-6275i
others(1147): Show 
c.304-6276_304-6275insCAGTCACCATGCTGTACATTAGGTCTCC
AGAAATTATTCATACTACATAATTGCAACGTTGTACCCTTTGACAAGTAT
CCCCCTATTTTCACCATGCCCCCAGGCCTGGCAACCACCATTCTACTCTC
TGCTCCTATGATTTCAATGTTTTTAGATTTCACACGTAAGTGAGATCATA
TGGTATTTGTCTTTCTTATTTCCCTTAGTATAAAGTCCTCCAGATGCATC
CATGTTGTTGCAAATGTCCTCTTTTAAGCCTGAAGGGTATTCCATTGTGT
ATGAATACCATATTTCTTTATCCATTCATCTATGATGGACACTTGGGTTG
TTTACATATCTTGTCTATTGTGAGTAATGCTACAATAAACACAGGAGTGC
AAATATCTCTTGGAGATAGTGATGTCATTTACTTTGGATATACACCAAGA
AGTGAGATTGCTACATCATATGGTAGTTCCATTTTTAAATTTTTTTGGAA
CCTCCATATTGTTTTTCATAACGGCTTCATCAATTTACCTTCCCACCATC
AGTGAACAAGAGTTCCCTTTTCTCCACAAGAGTTCTTTTCTTGTCTTTTT
AATAAGGTCCATTCTCACAGATAAGAGGTGATTTCTCATTGTGGTTTTCA
TTTGCATTTCCCTGATGATTTGTGACACTGACCTATTTTTAATATACCTG
TTGGTCATTTGTATGTCTTTTTTGAGAAATATCTGTTTGGGTCTCTTGCC
CATTTTTTAATCAAGTTTTTGTTTGTTTGTTTGTTTGTTTGTTTTGCTAC
TGAATTGTTTGGATTCCTTATGTATTCTGAGTAATAACACCTTATAAGAT
ATATGGTTTGCAAATATTTTCTCCCATTCTGTAGGTTGCCTCTTCACTCT
GTTTATTATTTCCTTTGTTGTGAAGAAACTTTTTAATTTGATGCAATTCC
ATTTTTTGGTTTTTTTTTTTTTTTTTGGTTTTGTTTTTGTTGCCTGTGTT
TTGAGATCATAGCAAAAAATTCACTGCCCAGATCAATGTCAAGATTTTTC
CCTAAGTTTCTTTCTAATAGTTTCACATAGTTACCTTTTTCTTCCTTCCT
TTTTTTGGTGAGAACATTTAGGATCTACTTTCTTATTAATTTCAAGTATA
CAATATATTATTAACTA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13065907
chr20:13065907 T
T
 TCTTCCTT
others(1139): Show 
TCTTCCTTTTTTTGGTGAGAACATTTAGGATCTACTTTCTTATTAATTTC
AAGTATACAATATATTATTAACTACAGTCACCATGCTGTACATTAGGTCT
CCAGAAATTATTCATACTACATAATTGCAACGTTGTACCCTTTGACAAGT
ATCCCCCTATTTTCACCATGCCCCCAGGCCTGGCAACCACCATTCTACTC
TCTGCTCCTATGATTTCAATGTTTTTAGATTTCACACGTAAGTGAGATCA
TATGGTATTTGTCTTTCTTATTTCCCTTAGTATAAAGTCCTCCAGATGCA
TCCATGTTGTTGCAAATGTCCTCTTTTAAGCCTGAAGGGTATTCCATTGT
GTATGAATACCATATTTCTTTATCCATTCATCTATGATGGACACTTGGGT
TGTTTACATATCTTGTCTATTGTGAGTAATGCTACAATAAACACAGGAGT
GCAAATATCTCTTGGAGATAGTGATGTCATTTACTTTGGATATACACCAA
GAAGTGAGATTGCTACATCATATGGTAGTTCCATTTTTAAATTTTTTTGG
AACCTCCATATTGTTTTTCATAACGGCTTCATCAATTTACCTTCCCACCA
TCAGTGAACAAGAGTTCCCTTTTCTCCACAAGAGTTCTTTTCTTGTCTTT
TTAATAAGGTCCATTCTCACAGATAAGAGGTGATTTCTCATTGTGGTTTT
CATTTGCATTTCCCTGATGATTTGTGACACTGACCTATTTTTAATATACC
TGTTGGTCATTTGTATGTCTTTTTTGAGAAATATCTGTTTGGGTCTCTTG
CCCATTTTTTAATCAAGTTTTTGTTTGTTTGTTTGTTTGTTTGTTTTGCT
ACTGAATTGTTTGGATTCCTTATGTATTCTGAGTAATAACACCTTATAAG
ATATATGGTTTGCAAATATTTTCTCCCATTCTGTAGGTTGCCTCTTCACT
CTGTTTATTATTTCCTTTGTTGTGAAGAAACTTTTTAATTTGATGCAATT
CCATTTTTTGGTTTTTTTTTTTTTTTTTTGGTTTTGTTTTTGTTGCCTGT
GTTTTGAGATCATAGCAAAAAATTCACTGCCCAGATCAATGTCAAGATTT
TTCCCTAAGTTTCTTTCTAATAGTTTCACATAGCTACCTTTTTCTTC
 1 a0005c0010t0037g0167
a0005c0010t0037g0167
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.304-6276_304-6275i
others(1148): Show 
c.304-6276_304-6275insCAGTCACCATGCTGTACATTAGGTCTCC
AGAAATTATTCATACTACATAATTGCAACGTTGTACCCTTTGACAAGTAT
CCCCCTATTTTCACCATGCCCCCAGGCCTGGCAACCACCATTCTACTCTC
TGCTCCTATGATTTCAATGTTTTTAGATTTCACACGTAAGTGAGATCATA
TGGTATTTGTCTTTCTTATTTCCCTTAGTATAAAGTCCTCCAGATGCATC
CATGTTGTTGCAAATGTCCTCTTTTAAGCCTGAAGGGTATTCCATTGTGT
ATGAATACCATATTTCTTTATCCATTCATCTATGATGGACACTTGGGTTG
TTTACATATCTTGTCTATTGTGAGTAATGCTACAATAAACACAGGAGTGC
AAATATCTCTTGGAGATAGTGATGTCATTTACTTTGGATATACACCAAGA
AGTGAGATTGCTACATCATATGGTAGTTCCATTTTTAAATTTTTTTGGAA
CCTCCATATTGTTTTTCATAACGGCTTCATCAATTTACCTTCCCACCATC
AGTGAACAAGAGTTCCCTTTTCTCCACAAGAGTTCTTTTCTTGTCTTTTT
AATAAGGTCCATTCTCACAGATAAGAGGTGATTTCTCATTGTGGTTTTCA
TTTGCATTTCCCTGATGATTTGTGACACTGACCTATTTTTAATATACCTG
TTGGTCATTTGTATGTCTTTTTTGAGAAATATCTGTTTGGGTCTCTTGCC
CATTTTTTAATCAAGTTTTTGTTTGTTTGTTTGTTTGTTTGTTTTGCTAC
TGAATTGTTTGGATTCCTTATGTATTCTGAGTAATAACACCTTATAAGAT
ATATGGTTTGCAAATATTTTCTCCCATTCTGTAGGTTGCCTCTTCACTCT
GTTTATTATTTCCTTTGTTGTGAAGAAACTTTTTAATTTGATGCAATTCC
ATTTTTTGGTTTTTTTTTTTTTTTTTTGGTTTTGTTTTTGTTGCCTGTGT
TTTGAGATCATAGCAAAAAATTCACTGCCCAGATCAATGTCAAGATTTTT
CCCTAAGTTTCTTTCTAATAGTTTCACATAGCTACCTTTTTCTTCCTTCC
TTTTTTTGGTGAGAACATTTAGGATCTACTTTCTTATTAATTTCAAGTAT
ACAATATATTATTAACTA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13065907
chr20:13065907 T
T
 TCTTCCTT
others(1140): Show 
TCTTCCTTTTTTTGGTGAGAACATTTAGGATCTACTTTCTTATTAATTTC
AAGTATACAATATATTATTAACTACAGTCACCATGCTGTACATTAGGTCT
CCAGAAATTATTCATACTACATAATTGCAACGTTGTACCCTTTGACAAGT
ATCCCCCTATTTTCACCATGCCCCCAGGCCTGGCAACCACCATTCTACTC
TCTGCTCCTATGATTTCAATGTTTTTAGATTTCACACGTAAGTGAGATCA
TATGGTATTTGTCTTTCTTATTTCCCTTAGTATAAAGTCCTCCAGATGCA
TCCATGTTGTTGCAAATGTCCTCTTTTAAGCCTGAAGGGTATTCCATTGT
GTATGAATACCATATTTCTTTATCCATTCATCTATGATGGACACTTGGGT
TGTTTACATATCTTGTCTATTGTGAGTAATGCTACAATAAACACAGGAGT
GCAAATATCTCTTGGAGATAGTGATGTCATTTACTTTGGATATACACCAA
GAAGTGAGATTGCTACATCATATGGTAGTTCCATTTTTAAATTTTTTTGG
AACCTCCATATTGTTTTTCATAACGGCTTCATCAATTTACCTTCCCACCA
TCAGTGAACAAGAGTTCCCTTTTCTCCACAAGAGTTCTTTTCTTGTCTTT
TTAATAAGGTCCATTCTCACAGATAAGAGGTGATTTCTCATTGTGGTTTT
CATTTGCATTTCCCTGATGATTTGTGACACTGACCTATTTTTAATATACC
TGTTGGTCATTTGTATGTCTTTTTTGAGAAATATCTGTTTGGGTCTCTTG
CCCATTTTTTAATCAAGTTTTTGTTTGTTTGTTTGTTTGTTTGTTTTGCT
ACTGAATTGTTTGGATTCCTTATGTATTCTGAGTAATAACACCTTATAAG
ATATATGGTTTGCAAATATTTTCTCCCATTCTGTAGGTTGCCTCTTCACT
CTGTTTATTATTTCCTTTGTTGTGAAGAAACTTTTTAATTTGATGCAATT
CCATTTTTTGGTTTTTTTTTTTTTTTTTTTGGTTTTGTTTTTGTTGCCTG
TGTTTTGAGATCATAGCAAAAAATTCACTGCCCAGATCAATGTCAAGATT
TTTCCCTAAGTTTCTTTCTAATAGTTTCACATAGCTACCTTTTTCTTC
 1 a0001c0012t0023g0165
a0001c0012t0023g0165
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.304-6276_304-6275i
others(1149): Show 
c.304-6276_304-6275insCAGTCACCATGCTGTACATTAGGTCTCC
AGAAATTATTCATACTACATAATTGCAACGTTGTACCCTTTGACAAGTAT
CCCCCTATTTTCACCATGCCCCCAGGCCTGGCAACCACCATTCTACTCTC
TGCTCCTATGATTTCAATGTTTTTAGATTTCACACGTAAGTGAGATCATA
TGGTATTTGTCTTTCTTATTTCCCTTAGTATAAAGTCCTCCAGATGCATC
CATGTTGTTGCAAATGTCCTCTTTTAAGCCTGAAGGGTATTCCATTGTGT
ATGAATACCATATTTCTTTATCCATTCATCTATGATGGACACTTGGGTTG
TTTACATATCTTGTCTATTGTGAGTAATGCTACAATAAACACAGGAGTGC
AAATATCTCTTGGAGATAGTGATGTCATTTACTTTGGATATACACCAAGA
AGTGAGATTGCTACATCATATGGTAGTTCCATTTTTAAATTTTTTTGGAA
CCTCCATATTGTTTTTCATAACGGCTTCATCAATTTACCTTCCCACCATC
AGTGAACAAGAGTTCCCTTTTCTCCACAAGAGTTCTTTTCTTGTCTTTTT
AATAAGGTCCATTCTCACAGATAAGAGGTGATTTCTCATTGTGGTTTTCA
TTTGCATTTCCCTGATGATTTGTGACACTGACCTATTTTTAATATACCTG
TTGGTCATTTGTATGTCTTTTTTGAGAAATATCTGTTTGGGTCTCTTGCC
CATTTTTTAATCAAGTTTTTGTTTGTTTGTTTGTTTGTTTGTTTTGCTAC
TGAATTGTTTGGATTCCTTATGTATTCTGAGTAATAACACCTTATAAGAT
ATATGGTTTGCAAATATTTTCTCCCATTCTGTAGGTTGCCTCTTCACTCT
GTTTATTATTTCCTTTGTTGTGAAGAAACTTTTTAATTTGATGCAATTCC
ATTTTTTGGTTTTTTTTTTTTTTTTTTTGGTTTTGTTTTTGTTGCCTGTG
TTTTGAGATCATAGCAAAAAATTCACTGCCCAGATCAATGTCAAGATTTT
TCCCTAAGTTTCTTTCTAATAGTTTCACATAGCTACCTTTTTCTTCCTTC
CTTTTTTTGGTGAGAACATTTAGGATCTACTTTCTTATTAATTTCAAGTA
TACAATATATTATTAACTA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13065907
chr20:13065907 T
T
 TCTTCCTT
others(1141): Show 
TCTTCCTTTTTTTGGTGAGAACATTTAGGATCTACTTTCTTATTAATTTC
AAGTATACAATATATTATTAACTACAGTCACCATGCTGTACATTAGGTCT
CCAGAAATTATTCATACTACATAATTGCAACGTTGTACCCTTTGACAAGT
ATCCCCCTATTTTCACCATGCCCCCAGGCCTGGCAACCACCATTCTACTC
TCTGCTCCTATGATTTCAATGTTTTTAGATTTCACACGTAAGTGAGATCA
TATGGTATTTGTCTTTCTTATTTCCCTTAGTATAAAGTCCTCCAGATGCA
TCCATGTTGTTGCAAATGTCCTCTTTTAAGCCTGAAGGGTATTCCATTGT
GTATGAATACCATATTTCTTTATCCATTCATCTATGATGGACACTTGGGT
TGTTTACATATCTTGTCTATTGTGAGTAATGCTACAATAAACACAGGAGT
GCAAATATCTCTTGGAGATAGTGATGTCATTTACTTTGGATATACACCAA
GAAGTGAGATTGCTACATCATATGGTAGTTCCATTTTTAAATTTTTTTGG
AACCTCCATATTGTTTTTCATAACGGCTTCATCAATTTACCTTCCCACCA
TCAGTGAACAAGAGTTCCCTTTTCTCCACAAGAGTTCTTTTCTTGTCTTT
TTAATAAGGTCCATTCTCACAGATAAGAGGTGATTTCTCATTGTGGTTTT
CATTTGCATTTCCCTGATGATTTGTGACACTGACCTATTTTTAATATACC
TGTTGGTCATTTGTATGTCTTTTTTGAGAAATATCTGTTTGGGTCTCTTG
CCCATTTTTTAATCAAGTTTTTGTTTGTTTGTTTGTTTGTTTGTTTTGCT
ACTGAATTGTTTGGATTCCTTATGTATTCTGAGTAATAACACCTTATAAG
ATATATGGTTTGCAAATATTTTCTCCCATTCTGTAGGTTGCCTCTTCACT
CTGTTTATTATTTCCTTTGTTGTGAAGAAACTTTTTAATTTGATGCAATT
CCATTTTTTGGTTTTTTTTTTTTTTTTTTTTGGTTTTGTTTTTGTTGCCT
GTGTTTTGAGATCATAGCAAAAAATTCACTGCCCAGATCAATGTCAAGAT
TTTTCCCTAAGTTTCTTTCTAATAGTTTCACATAGCTACCTTTTTCTTC
 1 a0001c0005t0010g0231
a0001c0005t0010g0231
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.304-6276_304-6275i
others(1150): Show 
c.304-6276_304-6275insCAGTCACCATGCTGTACATTAGGTCTCC
AGAAATTATTCATACTACATAATTGCAACGTTGTACCCTTTGACAAGTAT
CCCCCTATTTTCACCATGCCCCCAGGCCTGGCAACCACCATTCTACTCTC
TGCTCCTATGATTTCAATGTTTTTAGATTTCACACGTAAGTGAGATCATA
TGGTATTTGTCTTTCTTATTTCCCTTAGTATAAAGTCCTCCAGATGCATC
CATGTTGTTGCAAATGTCCTCTTTTAAGCCTGAAGGGTATTCCATTGTGT
ATGAATACCATATTTCTTTATCCATTCATCTATGATGGACACTTGGGTTG
TTTACATATCTTGTCTATTGTGAGTAATGCTACAATAAACACAGGAGTGC
AAATATCTCTTGGAGATAGTGATGTCATTTACTTTGGATATACACCAAGA
AGTGAGATTGCTACATCATATGGTAGTTCCATTTTTAAATTTTTTTGGAA
CCTCCATATTGTTTTTCATAACGGCTTCATCAATTTACCTTCCCACCATC
AGTGAACAAGAGTTCCCTTTTCTCCACAAGAGTTCTTTTCTTGTCTTTTT
AATAAGGTCCATTCTCACAGATAAGAGGTGATTTCTCATTGTGGTTTTCA
TTTGCATTTCCCTGATGATTTGTGACACTGACCTATTTTTAATATACCTG
TTGGTCATTTGTATGTCTTTTTTGAGAAATATCTGTTTGGGTCTCTTGCC
CATTTTTTAATCAAGTTTTTGTTTGTTTGTTTGTTTGTTTGTTTTGCTAC
TGAATTGTTTGGATTCCTTATGTATTCTGAGTAATAACACCTTATAAGAT
ATATGGTTTGCAAATATTTTCTCCCATTCTGTAGGTTGCCTCTTCACTCT
GTTTATTATTTCCTTTGTTGTGAAGAAACTTTTTAATTTGATGCAATTCC
ATTTTTTGGTTTTTTTTTTTTTTTTTTTTGGTTTTGTTTTTGTTGCCTGT
GTTTTGAGATCATAGCAAAAAATTCACTGCCCAGATCAATGTCAAGATTT
TTCCCTAAGTTTCTTTCTAATAGTTTCACATAGCTACCTTTTTCTTCCTT
CCTTTTTTTGGTGAGAACATTTAGGATCTACTTTCTTATTAATTTCAAGT
ATACAATATATTATTAACTA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13065907
chr20:13065907 T
T
 TCTTCCTT
others(1137): Show 
TCTTCCTTTTTTTGGTGAGAACATTTAGGATCTACTTTCTTATTAATTTC
AAGTATACAATATATTATTAACTACAGTCACCATGCTGTACATTAGGTCT
CCAGAAATTATTCATACTACATAATTGCAACGTTGTACCCTTTGACAAGT
ATCCCCCTATTTTCACCATGCCCCCAGGCCTGGCAACCACCATTCTACTC
TCTGCTCCTATGATTTCAATGTTTTTAGATTTCACACGTAAGTGAGATCA
TATGGTATTTGTCTTTCTTATTTCCCTTAGTATAAAGTCCTCCAGATGCA
TCCATGTTGTTGCAAATGTCCTCTTTTAAGCCTGAAGGGTATTCCATTGT
GTATGAATACCATATTTCTTTATCCATTCATCTATGATGGACACTTGTGT
TGTTTACATATCTTGTCTATTGTGAGTAATGCTACAATAAACACAGGAGT
GCAAATATCTCTTGGAGATAGTGATGTCATTTACTTTGGATATACACCAA
GAAGTGAGATTGCTACATCATATGGTAGTTCCATTTTTAAATTTTTTTGG
AACCTCCATATTGTTTTTCATAACGGCTTCATCAATTTACCTTCCCACCA
TCAGTGAACAAGAGTTCCCTTTTCTCCACAAGAGTTCTTTTCTTGTCTTT
TTAATAAGGTCCATTCTCACAGATAAGAGGTGATTTCTCATTGTGGTTTT
CATTTGCATTTCCCTGATGATTTGTGACACTGACCTATTTTTAATATACC
TGTTGGTCATTTGTATGTCTTTTTTGAGAAATATCTGTTTGGGTCTCTTG
CCCATTTTTTAATCAAGTTTTTGTTTGTTTGTTTGTTTGTTTGTTTTGCT
ACTGAATTGTTTGGATTCCTTATGTATTCTGAGTAATAACACCTTATAAG
ATATATGGTTTGCAAATATTTTCTCCCATTCTGTAGGTTGCCTCTTCACT
CTGTTTATTATTTCCTTTGTTGTGAAGAAACTTTTTAATTTGATGCAATT
CCATTTTTTGGTTTTTTTTTTTTTTTTGGTTTTGTTTTTGTTGCCTGTGT
TTTGAGATCATAGCAAAAAATTCACTGCCCAGATCAATGTCAAGATTTTT
CCCTAAGTTTCTTTCTAATAGTTTCACATAGTTACCTTTTTCTTC
 1 a0001c0001t0003g0123
a0001c0001t0003g0123
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.304-6276_304-6275i
others(1146): Show 
c.304-6276_304-6275insCAGTCACCATGCTGTACATTAGGTCTCC
AGAAATTATTCATACTACATAATTGCAACGTTGTACCCTTTGACAAGTAT
CCCCCTATTTTCACCATGCCCCCAGGCCTGGCAACCACCATTCTACTCTC
TGCTCCTATGATTTCAATGTTTTTAGATTTCACACGTAAGTGAGATCATA
TGGTATTTGTCTTTCTTATTTCCCTTAGTATAAAGTCCTCCAGATGCATC
CATGTTGTTGCAAATGTCCTCTTTTAAGCCTGAAGGGTATTCCATTGTGT
ATGAATACCATATTTCTTTATCCATTCATCTATGATGGACACTTGTGTTG
TTTACATATCTTGTCTATTGTGAGTAATGCTACAATAAACACAGGAGTGC
AAATATCTCTTGGAGATAGTGATGTCATTTACTTTGGATATACACCAAGA
AGTGAGATTGCTACATCATATGGTAGTTCCATTTTTAAATTTTTTTGGAA
CCTCCATATTGTTTTTCATAACGGCTTCATCAATTTACCTTCCCACCATC
AGTGAACAAGAGTTCCCTTTTCTCCACAAGAGTTCTTTTCTTGTCTTTTT
AATAAGGTCCATTCTCACAGATAAGAGGTGATTTCTCATTGTGGTTTTCA
TTTGCATTTCCCTGATGATTTGTGACACTGACCTATTTTTAATATACCTG
TTGGTCATTTGTATGTCTTTTTTGAGAAATATCTGTTTGGGTCTCTTGCC
CATTTTTTAATCAAGTTTTTGTTTGTTTGTTTGTTTGTTTGTTTTGCTAC
TGAATTGTTTGGATTCCTTATGTATTCTGAGTAATAACACCTTATAAGAT
ATATGGTTTGCAAATATTTTCTCCCATTCTGTAGGTTGCCTCTTCACTCT
GTTTATTATTTCCTTTGTTGTGAAGAAACTTTTTAATTTGATGCAATTCC
ATTTTTTGGTTTTTTTTTTTTTTTTGGTTTTGTTTTTGTTGCCTGTGTTT
TGAGATCATAGCAAAAAATTCACTGCCCAGATCAATGTCAAGATTTTTCC
CTAAGTTTCTTTCTAATAGTTTCACATAGTTACCTTTTTCTTCCTTCCTT
TTTTTGGTGAGAACATTTAGGATCTACTTTCTTATTAATTTCAAGTATAC
AATATATTATTAACTA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13065907
chr20:13065943 T
T
 G
G
 98 a0001c0001t0001g0052
a0001c0001t0001g0159
a0001c0001t0001g0173
others(95): Show 
a0001c0001t0001g0052
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0252
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0014g0074
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0265
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0004t0017g0205
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0014t0005g0083
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0008c0015t0002g0050
 98 HG00140.hp1
HG00438.hp1
HG00609.hp1
others(95): Show 
HG00140.hp1
HG00438.hp1
HG00609.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01258.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03540.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18973.hp2
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19012.hp1
NA19030.hp2
NA19062.hp2
NA19063.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.304-6313T>G
c.304-6313T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13065943
chr20:13066010 C
C
 A
A
 116 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(113): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0010g0231
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0012t0023g0165
a0004c0008t0005g0140
a0005c0010t0037g0167
a0007c0017t0013g0049
 116 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(113): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01975.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-6246C>A
c.304-6246C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13066010
chr20:13066017 T
T
 C
C
 1 a0002c0002t0036g0061
a0002c0002t0036g0061
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.304-6239T>C
c.304-6239T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13066017
chr20:13066024 A
A
 T
T
 116 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(113): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0010g0231
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0012t0023g0165
a0004c0008t0005g0140
a0005c0010t0037g0167
a0007c0017t0013g0049
 116 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(113): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01975.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-6232A>T
c.304-6232A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13066024
chr20:13066167 T
T
 A
A
 1 a0001c0003t0006g0048
a0001c0003t0006g0048
 1 NA19077.hp1
NA19077.hp1
 intron_variant MODIFIER c.304-6089T>A
c.304-6089T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13066167
chr20:13066357 G
G
 A
A
 1 a0002c0002t0008g0047
a0002c0002t0008g0047
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.304-5899G>A
c.304-5899G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13066357
chr20:13066413 T
T
 C
C
 2 a0001c0005t0010g0231
a0001c0012t0023g0165
a0001c0005t0010g0231
a0001c0012t0023g0165
 2 HG02622.hp1
HG02895.hp2
HG02622.hp1
HG02895.hp2
 intron_variant MODIFIER c.304-5843T>C
c.304-5843T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13066413
chr20:13066417 C
C
 A
A
 1 a0002c0002t0021g0065
a0002c0002t0021g0065
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.304-5839C>A
c.304-5839C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13066417
chr20:13066467 T
T
 C
C
 1 a0005c0010t0037g0167
a0005c0010t0037g0167
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.304-5789T>C
c.304-5789T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13066467
chr20:13066633 A
A
 T
T
 116 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(113): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0010g0231
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0012t0023g0165
a0004c0008t0005g0140
a0005c0010t0037g0167
a0007c0017t0013g0049
 116 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(113): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01975.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-5623A>T
c.304-5623A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13066633
chr20:13066797 G
G
 A
A
 214 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(211): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0012t0023g0165
a0001c0014t0005g0083
a0004c0008t0005g0140
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 214 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(211): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18990.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.304-5459G>A
c.304-5459G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13066797
chr20:13066836 G
G
 A
A
 1 a0001c0014t0005g0083
a0001c0014t0005g0083
 1 HG01258.hp2
HG01258.hp2
 intron_variant MODIFIER c.304-5420G>A
c.304-5420G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13066836
chr20:13066856 C
C
 T
T
 98 a0001c0001t0001g0052
a0001c0001t0001g0159
a0001c0001t0001g0173
others(95): Show 
a0001c0001t0001g0052
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0252
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0014g0074
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0265
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0004t0017g0205
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0014t0005g0083
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0008c0015t0002g0050
 98 HG00140.hp1
HG00438.hp1
HG00609.hp1
others(95): Show 
HG00140.hp1
HG00438.hp1
HG00609.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01258.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03540.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18973.hp2
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19012.hp1
NA19030.hp2
NA19062.hp2
NA19063.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.304-5400C>T
c.304-5400C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13066856
chr20:13066897 C
C
 A
A
 3 a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0040g0206
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0040g0206
 3 HG01346.hp2
HG03017.hp1
HG04199.hp1
HG01346.hp2
HG03017.hp1
HG04199.hp1
 intron_variant MODIFIER c.304-5359C>A
c.304-5359C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13066897
chr20:13066909 C
C
 T
T
 116 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(113): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0010g0231
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0012t0023g0165
a0004c0008t0005g0140
a0005c0010t0037g0167
a0007c0017t0013g0049
 116 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(113): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01975.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-5347C>T
c.304-5347C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13066909
chr20:13066920 AAATC
AAATC
 A
A
 116 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(113): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0010g0231
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0012t0023g0165
a0004c0008t0005g0140
a0005c0010t0037g0167
a0007c0017t0013g0049
 116 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(113): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01975.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-5334_304-5331d
others(6): Show 
c.304-5334_304-5331delATCA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13066920
chr20:13066968 G
G
 T
T
 116 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(113): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0010g0231
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0012t0023g0165
a0004c0008t0005g0140
a0005c0010t0037g0167
a0007c0017t0013g0049
 116 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(113): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01975.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-5288G>T
c.304-5288G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13066968
chr20:13067032 AT
AT
 A
A
 116 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(113): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0010g0231
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0012t0023g0165
a0004c0008t0005g0140
a0005c0010t0037g0167
a0007c0017t0013g0049
 116 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(113): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01975.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-5223delT
c.304-5223delT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13067032
chr20:13067044 C
C
 CAT
CAT
 13 a0002c0002t0004g0255
a0002c0002t0008g0017
a0002c0002t0008g0018
others(10): Show 
a0002c0002t0004g0255
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0047
a0002c0002t0021g0065
a0002c0002t0026g0214
a0002c0002t0035g0056
a0002c0002t0043g0193
a0002c0006t0005g0086
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0039
a0003c0007t0006g0063
 13 HG00423.hp2
HG01168.hp2
HG02056.hp2
others(10): Show 
HG00423.hp2
HG01168.hp2
HG02056.hp2
HG02451.hp2
HG02897.hp2
HG04115.hp1
NA18954.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18986.hp1
NA20752.hp1
 intron_variant MODIFIER c.304-5155_304-5154d
others(4): Show 
c.304-5155_304-5154dupAT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13067044
chr20:13067044 C
C
 CATAT
CATAT
 6 a0001c0003t0005g0172
a0002c0002t0001g0102
a0002c0002t0001g0190
others(3): Show 
a0001c0003t0005g0172
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0002g0009
a0002c0002t0002g0038
a0002c0006t0005g0171
 6 HG00621.hp1
HG02015.hp1
HG02071.hp2
others(3): Show 
HG00621.hp1
HG02015.hp1
HG02071.hp2
NA18985.hp1
NA19010.hp1
NA19012.hp2
 intron_variant MODIFIER c.304-5157_304-5154d
others(6): Show 
c.304-5157_304-5154dupATAT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13067044
chr20:13067044 C
C
 CATATAT
CATATAT
 3 a0001c0001t0008g0035
a0002c0002t0002g0008
a0002c0006t0006g0037
a0001c0001t0008g0035
a0002c0002t0002g0008
a0002c0006t0006g0037
 3 HG02080.hp2
NA18956.hp2
NA18970.hp1
HG02080.hp2
NA18956.hp2
NA18970.hp1
 intron_variant MODIFIER c.304-5159_304-5154d
others(8): Show 
c.304-5159_304-5154dupATATAT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13067044
chr20:13067044 C
C
 CATATATA
others(3): Show 
CATATATATAT
 2 a0001c0001t0003g0192
a0002c0002t0002g0027
a0001c0001t0003g0192
a0002c0002t0002g0027
 2 HG00423.hp1
NA19011.hp2
HG00423.hp1
NA19011.hp2
 intron_variant MODIFIER c.304-5163_304-5154d
others(12): Show 
c.304-5163_304-5154dupATATATATAT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13067044
chr20:13067044 C
C
 CATATATA
others(5): Show 
CATATATATATAT
 4 a0002c0002t0002g0026
a0002c0002t0004g0254
a0002c0002t0008g0012
others(1): Show 
a0002c0002t0002g0026
a0002c0002t0004g0254
a0002c0002t0008g0012
a0002c0002t0031g0001
 4 HG02074.hp1
NA18948.hp2
NA19057.hp2
others(1): Show 
HG02074.hp1
NA18948.hp2
NA19057.hp2
NA19091.hp1
 intron_variant MODIFIER c.304-5165_304-5154d
others(14): Show 
c.304-5165_304-5154dupATATATATATAT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13067044
chr20:13067044 C
C
 CATATATA
others(11): Show 
CATATATATATATATATAT
 1 a0002c0002t0002g0007
a0002c0002t0002g0007
 1 NA19057.hp1
NA19057.hp1
 intron_variant MODIFIER c.304-5171_304-5154d
others(20): Show 
c.304-5171_304-5154dupATATATATATATATATAT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13067044
chr20:13067044 CAT
CAT
 C
C
 10 a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0003g0198
others(7): Show 
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0003g0198
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0036g0061
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0066
 10 HG00735.hp1
HG01192.hp2
HG01496.hp2
others(7): Show 
HG00735.hp1
HG01192.hp2
HG01496.hp2
HG02293.hp1
HG02293.hp2
HG03239.hp1
NA18951.hp1
NA18988.hp1
NA19010.hp2
NA20129.hp2
 intron_variant MODIFIER c.304-5155_304-5154d
others(4): Show 
c.304-5155_304-5154delAT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13067044
chr20:13067044 CATAT
CATAT
 C
C
 8 a0001c0001t0008g0034
a0002c0002t0002g0046
a0002c0002t0003g0197
others(5): Show 
a0001c0001t0008g0034
a0002c0002t0002g0046
a0002c0002t0003g0197
a0002c0002t0008g0004
a0002c0002t0013g0041
a0002c0006t0006g0016
a0002c0006t0006g0042
a0002c0006t0006g0043
 8 HG00642.hp2
HG01975.hp1
HG03831.hp1
others(5): Show 
HG00642.hp2
HG01975.hp1
HG03831.hp1
NA18960.hp1
NA18971.hp1
NA18981.hp2
NA19060.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.304-5157_304-5154d
others(6): Show 
c.304-5157_304-5154delATAT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13067044
chr20:13067044 CATATAT
CATATAT
 C
C
 6 a0002c0002t0002g0051
a0002c0002t0062g0280
a0002c0006t0006g0028
others(3): Show 
a0002c0002t0002g0051
a0002c0002t0062g0280
a0002c0006t0006g0028
a0002c0006t0006g0036
a0004c0008t0006g0033
a0005c0010t0037g0167
 6 HG00673.hp1
HG01884.hp1
HG01952.hp1
others(3): Show 
HG00673.hp1
HG01884.hp1
HG01952.hp1
HG02135.hp2
HG04204.hp2
NA18990.hp2
 intron_variant MODIFIER c.304-5159_304-5154d
others(8): Show 
c.304-5159_304-5154delATATAT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13067044
chr20:13067044 CATATATA
others(1): Show 
CATATATAT
 C
C
 3 a0001c0005t0010g0231
a0001c0012t0023g0165
a0002c0002t0001g0199
a0001c0005t0010g0231
a0001c0012t0023g0165
a0002c0002t0001g0199
 3 HG01255.hp2
HG02622.hp1
HG02895.hp2
HG01255.hp2
HG02622.hp1
HG02895.hp2
 intron_variant MODIFIER c.304-5161_304-5154d
others(10): Show 
c.304-5161_304-5154delATATATAT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13067044
chr20:13067044 CATATATA
others(3): Show 
CATATATATAT
 C
C
 3 a0002c0002t0001g0212
a0002c0002t0052g0087
a0002c0006t0006g0023
a0002c0002t0001g0212
a0002c0002t0052g0087
a0002c0006t0006g0023
 3 HG02155.hp1
HG03130.hp1
NA18988.hp2
HG02155.hp1
HG03130.hp1
NA18988.hp2
 intron_variant MODIFIER c.304-5163_304-5154d
others(12): Show 
c.304-5163_304-5154delATATATATAT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13067044
chr20:13067044 CATATATA
others(5): Show 
CATATATATATAT
 C
C
 3 a0002c0002t0002g0029
a0002c0002t0002g0062
a0002c0018t0002g0054
a0002c0002t0002g0029
a0002c0002t0002g0062
a0002c0018t0002g0054
 3 NA18957.hp2
NA19086.hp1
NA19089.hp1
NA18957.hp2
NA19086.hp1
NA19089.hp1
 intron_variant MODIFIER c.304-5165_304-5154d
others(14): Show 
c.304-5165_304-5154delATATATATATAT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13067044
chr20:13067044 CATATATA
others(15): Show 
CATATATATATATATATATATAT
 C
C
 1 a0002c0006t0005g0191
a0002c0006t0005g0191
 1 NA18949.hp2
NA18949.hp2
 intron_variant MODIFIER c.304-5175_304-5154d
others(24): Show 
c.304-5175_304-5154delATATATATATATATATATATAT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13067044
chr20:13067044 CATATATA
others(21): Show 
CATATATATATATATATATATATATATAT
 C
C
 1 a0001c0001t0007g0239
a0001c0001t0007g0239
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.304-5181_304-5154d
others(30): Show 
c.304-5181_304-5154delATATATATATATATATATATATATATAT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13067044
chr20:13067044 CATATATA
others(23): Show 
CATATATATATATATATATATATATATATAT
 C
C
 5 a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0240
others(2): Show 
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0009t0011g0161
 5 HG01884.hp2
HG02055.hp1
HG02622.hp2
others(2): Show 
HG01884.hp2
HG02055.hp1
HG02622.hp2
NA18522.hp1
NA20805.hp1
 intron_variant MODIFIER c.304-5183_304-5154d
others(32): Show 
c.304-5183_304-5154delATATATATATATATATATATATATATAT
AT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13067044
chr20:13067044 CATATATA
others(29): Show 
CATATATATATATATATATATATATATATATATATAT
 C
C
 1 a0002c0002t0002g0030
a0002c0002t0002g0030
 1 NA18961.hp1
NA18961.hp1
 intron_variant MODIFIER c.304-5189_304-5154d
others(38): Show 
c.304-5189_304-5154delATATATATATATATATATATATATATAT
ATATATAT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13067044
chr20:13067044 CATATATA
others(33): Show 
CATATATATATATATATATATATATATATATATATATATAT
 C
C
 5 a0001c0001t0001g0095
a0001c0001t0002g0015
a0001c0001t0002g0057
others(2): Show 
a0001c0001t0001g0095
a0001c0001t0002g0015
a0001c0001t0002g0057
a0001c0001t0033g0045
a0008c0015t0002g0050
 5 NA18946.hp1
NA18949.hp1
NA18968.hp1
others(2): Show 
NA18946.hp1
NA18949.hp1
NA18968.hp1
NA19086.hp2
NA19091.hp2
 intron_variant MODIFIER c.304-5193_304-5154d
others(42): Show 
c.304-5193_304-5154delATATATATATATATATATATATATATAT
ATATATATATAT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13067044
chr20:13067044 CATATATA
others(35): Show 
CATATATATATATATATATATATATATATATATATATATATAT
 C
C
 206 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0096
others(203): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0014t0005g0083
a0004c0008t0005g0140
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
 206 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(203): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18954.hp1
NA18956.hp1
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18990.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19089.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.304-5195_304-5154d
others(44): Show 
c.304-5195_304-5154delATATATATATATATATATATATATATAT
ATATATATATATAT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13067044
chr20:13067099 A
A
 G
G
 116 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(113): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0010g0231
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0012t0023g0165
a0004c0008t0005g0140
a0005c0010t0037g0167
a0007c0017t0013g0049
 116 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(113): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01975.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-5157A>G
c.304-5157A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13067099
chr20:13067102 T
T
 C
C
 3 a0001c0005t0010g0231
a0001c0012t0023g0165
a0005c0010t0037g0167
a0001c0005t0010g0231
a0001c0012t0023g0165
a0005c0010t0037g0167
 3 HG01884.hp1
HG02622.hp1
HG02895.hp2
HG01884.hp1
HG02622.hp1
HG02895.hp2
 intron_variant MODIFIER c.304-5154T>C
c.304-5154T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13067102
chr20:13067152 GT
GT
 G
G
 116 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(113): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0010g0231
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0012t0023g0165
a0004c0008t0005g0140
a0005c0010t0037g0167
a0007c0017t0013g0049
 116 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(113): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01975.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-5100delT
c.304-5100delT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13067152
chr20:13067190 A
A
 G
G
 220 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(217): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0004c0008t0005g0140
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 220 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(217): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18990.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.304-5066A>G
c.304-5066A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13067190
chr20:13067243 C
C
 T
T
 1 a0001c0001t0007g0216
a0001c0001t0007g0216
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.304-5013C>T
c.304-5013C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13067243
chr20:13067248 C
C
 T
T
 1 a0001c0001t0001g0181
a0001c0001t0001g0181
 1 NA19089.hp2
NA19089.hp2
 intron_variant MODIFIER c.304-5008C>T
c.304-5008C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13067248
chr20:13067266 C
C
 T
T
 6 a0001c0001t0003g0070
a0001c0003t0010g0282
a0001c0003t0029g0275
others(3): Show 
a0001c0001t0003g0070
a0001c0003t0010g0282
a0001c0003t0029g0275
a0001c0003t0029g0283
a0004c0008t0028g0276
a0006c0016t0064g0248
 6 HG01952.hp2
HG02602.hp2
HG03654.hp2
others(3): Show 
HG01952.hp2
HG02602.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04228.hp2
 intron_variant MODIFIER c.304-4990C>T
c.304-4990C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13067266
chr20:13067297 A
A
 G
G
 1 a0002c0002t0008g0004
a0002c0002t0008g0004
 1 NA19060.hp1
NA19060.hp1
 intron_variant MODIFIER c.304-4959A>G
c.304-4959A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13067297
chr20:13067306 G
G
 T
T
 1 a0001c0001t0007g0216
a0001c0001t0007g0216
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.304-4950G>T
c.304-4950G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13067306
chr20:13067530 G
G
 A
A
 73 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(70): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
 73 HG00140.hp2
HG00323.hp2
HG00408.hp1
others(70): Show 
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-4726G>A
c.304-4726G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13067530
chr20:13067543 C
C
 G
G
 113 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(110): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0009t0005g0186
a0001c0009t0005g0204
a0004c0008t0005g0140
a0007c0017t0013g0049
 113 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(110): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01975.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-4713C>G
c.304-4713C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13067543
chr20:13067615 T
T
 C
C
 116 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(113): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0010g0231
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0012t0023g0165
a0004c0008t0005g0140
a0005c0010t0037g0167
a0007c0017t0013g0049
 116 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(113): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01975.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-4641T>C
c.304-4641T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13067615
chr20:13067714 A
A
 G
G
 116 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(113): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0010g0231
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0012t0023g0165
a0004c0008t0005g0140
a0005c0010t0037g0167
a0007c0017t0013g0049
 116 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(113): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01975.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-4542A>G
c.304-4542A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13067714
chr20:13067724 T
T
 C
C
 2 a0001c0001t0010g0215
a0001c0003t0012g0245
a0001c0001t0010g0215
a0001c0003t0012g0245
 2 HG02559.hp1
NA19240.hp2
HG02559.hp1
NA19240.hp2
 intron_variant MODIFIER c.304-4532T>C
c.304-4532T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13067724
chr20:13067749 C
C
 A
A
 116 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(113): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0010g0231
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0012t0023g0165
a0004c0008t0005g0140
a0005c0010t0037g0167
a0007c0017t0013g0049
 116 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(113): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01975.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-4507C>A
c.304-4507C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13067749
chr20:13067793 C
C
 A
A
 1 a0005c0010t0037g0167
a0005c0010t0037g0167
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.304-4463C>A
c.304-4463C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13067793
chr20:13067915 A
A
 G
G
 80 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(77): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
 80 HG00140.hp2
HG00323.hp2
HG00408.hp1
others(77): Show 
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-4341A>G
c.304-4341A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13067915
chr20:13067969 G
G
 A
A
 116 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(113): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0010g0231
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0012t0023g0165
a0004c0008t0005g0140
a0005c0010t0037g0167
a0007c0017t0013g0049
 116 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(113): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01975.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-4287G>A
c.304-4287G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13067969
chr20:13068313 A
A
 G
G
 1 a0001c0001t0014g0074
a0001c0001t0014g0074
 1 HG01515.hp2
HG01515.hp2
 intron_variant MODIFIER c.304-3943A>G
c.304-3943A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13068313
chr20:13068499 C
C
 T
T
 79 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(76): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
 79 HG00140.hp2
HG00323.hp2
HG00408.hp1
others(76): Show 
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-3757C>T
c.304-3757C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13068499
chr20:13068750 T
T
 TA
TA
 116 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(113): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0010g0231
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0012t0023g0165
a0002c0002t0002g0014
a0004c0008t0005g0140
a0007c0017t0013g0049
 116 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(113): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01975.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-3493dupA
c.304-3493dupA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13068750
chr20:13068750 TA
TA
 T
T
 24 a0001c0001t0001g0159
a0001c0001t0004g0225
a0001c0001t0004g0226
others(21): Show 
a0001c0001t0001g0159
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0015g0265
a0001c0001t0021g0064
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0014t0005g0083
a0005c0011t0023g0166
 24 HG00140.hp1
HG00735.hp2
HG01123.hp2
others(21): Show 
HG00140.hp1
HG00735.hp2
HG01123.hp2
HG01258.hp2
HG01516.hp2
HG01891.hp1
HG01978.hp2
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02451.hp1
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02896.hp1
HG02897.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp2
HG03491.hp1
HG06807.hp1
HG06807.hp2
NA21309.hp1
 intron_variant MODIFIER c.304-3493delA
c.304-3493delA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13068750
chr20:13068761 A
A
 C
C
 7 a0002c0002t0002g0008
a0002c0002t0008g0012
a0002c0002t0008g0017
others(4): Show 
a0002c0002t0002g0008
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0031g0001
a0002c0006t0006g0016
 7 HG00423.hp2
HG02080.hp2
NA18948.hp2
others(4): Show 
HG00423.hp2
HG02080.hp2
NA18948.hp2
NA18951.hp2
NA18971.hp1
NA18986.hp1
NA19091.hp1
 intron_variant MODIFIER c.304-3495A>C
c.304-3495A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13068761
chr20:13068764 C
C
 A
A
 3 a0001c0005t0010g0231
a0001c0012t0023g0165
a0005c0010t0037g0167
a0001c0005t0010g0231
a0001c0012t0023g0165
a0005c0010t0037g0167
 3 HG01884.hp1
HG02622.hp1
HG02895.hp2
HG01884.hp1
HG02622.hp1
HG02895.hp2
 intron_variant MODIFIER c.304-3492C>A
c.304-3492C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13068764
chr20:13068764 C
C
 T
T
 4 a0001c0005t0001g0080
a0001c0005t0004g0244
a0001c0005t0005g0081
others(1): Show 
a0001c0005t0001g0080
a0001c0005t0004g0244
a0001c0005t0005g0081
a0001c0005t0030g0285
 4 HG01891.hp1
HG02647.hp1
HG03041.hp1
others(1): Show 
HG01891.hp1
HG02647.hp1
HG03041.hp1
HG03195.hp2
 intron_variant MODIFIER c.304-3492C>T
c.304-3492C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13068764
chr20:13068884 A
A
 G
G
 98 a0001c0001t0001g0052
a0001c0001t0001g0159
a0001c0001t0001g0173
others(95): Show 
a0001c0001t0001g0052
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0252
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0014g0074
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0265
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0004t0017g0205
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0014t0005g0083
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0008c0015t0002g0050
 98 HG00140.hp1
HG00438.hp1
HG00609.hp1
others(95): Show 
HG00140.hp1
HG00438.hp1
HG00609.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01258.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03540.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18973.hp2
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19012.hp1
NA19030.hp2
NA19062.hp2
NA19063.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.304-3372A>G
c.304-3372A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13068884
chr20:13068900 A
A
 G
G
 2 a0001c0001t0003g0072
a0001c0001t0004g0266
a0001c0001t0003g0072
a0001c0001t0004g0266
 2 HG00741.hp1
HG02738.hp1
HG00741.hp1
HG02738.hp1
 intron_variant MODIFIER c.304-3356A>G
c.304-3356A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13068900
chr20:13068982 G
G
 A
A
 1 a0001c0001t0004g0226
a0001c0001t0004g0226
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.304-3274G>A
c.304-3274G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13068982
chr20:13069016 C
C
 T
T
 2 a0002c0002t0008g0017
a0002c0002t0008g0044
a0002c0002t0008g0017
a0002c0002t0008g0044
 2 NA18951.hp2
NA18986.hp1
NA18951.hp2
NA18986.hp1
 intron_variant MODIFIER c.304-3240C>T
c.304-3240C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13069016
chr20:13069017 G
G
 A
A
 113 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(110): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0009t0005g0186
a0001c0009t0005g0204
a0004c0008t0005g0140
a0007c0017t0013g0049
 113 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(110): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01975.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-3239G>A
c.304-3239G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13069017
chr20:13069096 C
C
 T
T
 1 a0001c0001t0004g0222
a0001c0001t0004g0222
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.304-3160C>T
c.304-3160C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13069096
chr20:13069173 C
C
 T
T
 113 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(110): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0009t0005g0186
a0001c0009t0005g0204
a0004c0008t0005g0140
a0007c0017t0013g0049
 113 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(110): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01975.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-3083C>T
c.304-3083C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13069173
chr20:13069180 G
G
 C
C
 5 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
others(2): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
 5 HG02809.hp1
HG02896.hp2
HG02965.hp1
others(2): Show 
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03516.hp2
 intron_variant MODIFIER c.304-3076G>C
c.304-3076G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13069180
chr20:13069190 C
C
 G
G
 1 a0002c0002t0035g0056
a0002c0002t0035g0056
 1 HG01168.hp2
HG01168.hp2
 intron_variant MODIFIER c.304-3066C>G
c.304-3066C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13069190
chr20:13069545 A
A
 G
G
 1 a0001c0004t0001g0177
a0001c0004t0001g0177
 1 NA18982.hp1
NA18982.hp1
 intron_variant MODIFIER c.304-2711A>G
c.304-2711A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13069545
chr20:13069588 C
C
 T
T
 4 a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0046g0071
others(1): Show 
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0046g0071
a0001c0001t0061g0274
 4 HG00741.hp2
HG01243.hp2
HG01515.hp2
others(1): Show 
HG00741.hp2
HG01243.hp2
HG01515.hp2
NA20805.hp2
 intron_variant MODIFIER c.304-2668C>T
c.304-2668C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13069588
chr20:13069618 G
G
 A
A
 65 a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
others(62): Show 
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0252
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0014g0074
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0019g0160
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0004t0017g0205
a0004c0008t0028g0276
a0006c0016t0064g0248
a0008c0015t0002g0050
 65 HG00438.hp1
HG00609.hp1
HG00741.hp1
others(62): Show 
HG00438.hp1
HG00609.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01515.hp2
HG01516.hp1
HG01891.hp2
HG01952.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02258.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02630.hp1
HG02647.hp2
HG02738.hp1
HG02809.hp2
HG03209.hp2
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18973.hp2
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19012.hp1
NA19062.hp2
NA19063.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.304-2638G>A
c.304-2638G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13069618
chr20:13069712 G
G
 A
A
 116 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(113): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0010g0231
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0012t0023g0165
a0004c0008t0005g0140
a0005c0010t0037g0167
a0007c0017t0013g0049
 116 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(113): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01975.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-2544G>A
c.304-2544G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13069712
chr20:13069908 C
C
 T
T
 80 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(77): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
 80 HG00140.hp2
HG00323.hp2
HG00408.hp1
others(77): Show 
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-2348C>T
c.304-2348C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13069908
chr20:13070074 G
G
 T
T
 3 a0002c0002t0001g0212
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0001g0212
a0002c0002t0026g0213
a0002c0002t0026g0214
 3 HG02895.hp1
HG02897.hp2
HG03130.hp1
HG02895.hp1
HG02897.hp2
HG03130.hp1
 intron_variant MODIFIER c.304-2182G>T
c.304-2182G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13070074
chr20:13070106 CA
CA
 C
C
 82 a0001c0001t0001g0052
a0001c0001t0001g0173
a0001c0001t0001g0181
others(79): Show 
a0001c0001t0001g0052
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0014g0074
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0004t0017g0205
a0001c0005t0010g0231
a0001c0005t0047g0068
a0001c0009t0011g0161
a0001c0012t0023g0165
a0004c0008t0028g0276
a0006c0016t0064g0248
a0008c0015t0002g0050
 82 HG00438.hp1
HG00609.hp1
HG00741.hp1
others(79): Show 
HG00438.hp1
HG00609.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01106.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01515.hp2
HG01516.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02109.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02258.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02738.hp1
HG02809.hp2
HG02895.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18973.hp2
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19012.hp1
NA19030.hp2
NA19062.hp2
NA19063.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.304-2144delA
c.304-2144delA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 INFO_REALIGN_3_PRIME chr20 13070106
chr20:13070154 T
T
 C
C
 1 a0002c0002t0002g0008
a0002c0002t0002g0008
 1 HG02080.hp2
HG02080.hp2
 intron_variant MODIFIER c.304-2102T>C
c.304-2102T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13070154
chr20:13070218 A
A
 G
G
 6 a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
others(3): Show 
a0001c0001t0004g0238
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0009t0011g0161
 6 HG01884.hp2
HG02055.hp1
HG02109.hp2
others(3): Show 
HG01884.hp2
HG02055.hp1
HG02109.hp2
HG02622.hp2
NA18522.hp1
NA20805.hp1
 intron_variant MODIFIER c.304-2038A>G
c.304-2038A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13070218
chr20:13070261 T
T
 C
C
 2 a0001c0001t0001g0141
a0001c0001t0003g0123
a0001c0001t0001g0141
a0001c0001t0003g0123
 2 HG00140.hp2
HG01433.hp2
HG00140.hp2
HG01433.hp2
 intron_variant MODIFIER c.304-1995T>C
c.304-1995T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13070261
chr20:13070509 A
A
 G
G
 74 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(71): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
 74 HG00140.hp2
HG00323.hp2
HG00408.hp1
others(71): Show 
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-1747A>G
c.304-1747A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13070509
chr20:13070670 C
C
 A
A
 1 a0002c0002t0034g0024
a0002c0002t0034g0024
 1 NA19062.hp1
NA19062.hp1
 intron_variant MODIFIER c.304-1586C>A
c.304-1586C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13070670
chr20:13070777 G
G
 A
A
 2 a0002c0002t0013g0041
a0002c0006t0006g0042
a0002c0002t0013g0041
a0002c0006t0006g0042
 2 HG00642.hp2
homoSapiens_chm13v2.hp1
HG00642.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.304-1479G>A
c.304-1479G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13070777
chr20:13070816 A
A
 T
T
 24 a0001c0001t0001g0159
a0001c0001t0004g0225
a0001c0001t0004g0226
others(21): Show 
a0001c0001t0001g0159
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0015g0265
a0001c0001t0021g0064
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0014t0005g0083
a0005c0011t0023g0166
 24 HG00140.hp1
HG00735.hp2
HG01123.hp2
others(21): Show 
HG00140.hp1
HG00735.hp2
HG01123.hp2
HG01258.hp2
HG01516.hp2
HG01891.hp1
HG01978.hp2
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02451.hp1
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02896.hp1
HG02897.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp2
HG03491.hp1
HG06807.hp1
HG06807.hp2
NA21309.hp1
 intron_variant MODIFIER c.304-1440A>T
c.304-1440A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13070816
chr20:13070844 G
G
 A
A
 220 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(217): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0004c0008t0005g0140
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 220 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(217): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18990.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.304-1412G>A
c.304-1412G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13070844
chr20:13071184 G
G
 A
A
 24 a0001c0001t0001g0159
a0001c0001t0004g0225
a0001c0001t0004g0226
others(21): Show 
a0001c0001t0001g0159
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0015g0265
a0001c0001t0021g0064
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0014t0005g0083
a0005c0011t0023g0166
 24 HG00140.hp1
HG00735.hp2
HG01123.hp2
others(21): Show 
HG00140.hp1
HG00735.hp2
HG01123.hp2
HG01258.hp2
HG01516.hp2
HG01891.hp1
HG01978.hp2
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02451.hp1
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02896.hp1
HG02897.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp2
HG03491.hp1
HG06807.hp1
HG06807.hp2
NA21309.hp1
 intron_variant MODIFIER c.304-1072G>A
c.304-1072G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13071184
chr20:13071354 C
C
 T
T
 74 a0001c0001t0001g0052
a0001c0001t0001g0173
a0001c0001t0001g0181
others(71): Show 
a0001c0001t0001g0052
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0252
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0014g0074
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0004t0017g0205
a0001c0005t0047g0068
a0004c0008t0028g0276
a0006c0016t0064g0248
a0008c0015t0002g0050
 74 HG00438.hp1
HG00609.hp1
HG00741.hp1
others(71): Show 
HG00438.hp1
HG00609.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01106.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01515.hp2
HG01516.hp1
HG01891.hp2
HG01952.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02258.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp2
HG02738.hp1
HG02809.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18973.hp2
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19012.hp1
NA19030.hp2
NA19062.hp2
NA19063.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.304-902C>T
c.304-902C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13071354
chr20:13071385 T
T
 G
G
 1 a0005c0010t0037g0167
a0005c0010t0037g0167
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.304-871T>G
c.304-871T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13071385
chr20:13071594 G
G
 A
A
 1 a0002c0006t0005g0086
a0002c0006t0005g0086
 1 NA18967.hp1
NA18967.hp1
 intron_variant MODIFIER c.304-662G>A
c.304-662G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13071594
chr20:13071614 C
C
 T
T
 113 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(110): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0009t0005g0186
a0001c0009t0005g0204
a0004c0008t0005g0140
a0007c0017t0013g0049
 113 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(110): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01975.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-642C>T
c.304-642C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13071614
chr20:13071728 C
C
 T
T
 6 a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0174
others(3): Show 
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0024g0178
a0001c0004t0024g0202
 6 NA18957.hp1
NA18982.hp1
NA18986.hp2
others(3): Show 
NA18957.hp1
NA18982.hp1
NA18986.hp2
NA18998.hp1
NA19070.hp2
NA19074.hp1
 intron_variant MODIFIER c.304-528C>T
c.304-528C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13071728
chr20:13071814 C
C
 T
T
 1 a0001c0001t0001g0182
a0001c0001t0001g0182
 1 NA19062.hp2
NA19062.hp2
 intron_variant MODIFIER c.304-442C>T
c.304-442C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13071814
chr20:13071859 C
C
 G
G
 1 a0002c0002t0004g0254
a0002c0002t0004g0254
 1 NA19057.hp2
NA19057.hp2
 intron_variant MODIFIER c.304-397C>G
c.304-397C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13071859
chr20:13071911 T
T
 A
A
 221 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(218): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0004c0008t0005g0140
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 221 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(218): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18990.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.304-345T>A
c.304-345T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13071911
chr20:13072023 G
G
 A
A
 104 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(101): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0192
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0009t0005g0186
a0001c0009t0005g0204
a0004c0008t0005g0140
a0007c0017t0013g0049
 104 HG00140.hp2
HG00280.hp2
HG00323.hp2
others(101): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01975.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.304-233G>A
c.304-233G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 2/11 chr20 13072023
chr20:13072634 G
G
 T
T
 108 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(105): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0076
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0192
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0004c0008t0005g0140
a0004c0008t0006g0033
a0007c0017t0013g0049
 108 HG00140.hp2
HG00280.hp2
HG00323.hp2
others(105): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18522.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.458+224G>T
c.458+224G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 3/11 chr20 13072634
chr20:13072642 G
G
 A
A
 1 a0001c0005t0047g0068
a0001c0005t0047g0068
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.458+232G>A
c.458+232G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 3/11 chr20 13072642
chr20:13072709 C
C
 T
T
 1 a0001c0001t0059g0290
a0001c0001t0059g0290
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.458+299C>T
c.458+299C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 3/11 chr20 13072709
chr20:13072711 T
T
 C
C
 1 a0001c0003t0032g0022
a0001c0003t0032g0022
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.458+301T>C
c.458+301T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 3/11 chr20 13072711
chr20:13073014 A
A
 G
G
 3 a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0009g0151
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0009g0151
 3 HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02723.hp2
HG02896.hp1
HG02897.hp1
 intron_variant MODIFIER c.458+604A>G
c.458+604A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 3/11 chr20 13073014
chr20:13073214 C
C
 T
T
 1 a0001c0001t0001g0156
a0001c0001t0001g0156
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.458+804C>T
c.458+804C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 3/11 chr20 13073214
chr20:13073215 CT
CT
 C
C
 109 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(106): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0192
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0002c0002t0008g0006
a0004c0008t0005g0140
a0004c0008t0006g0033
a0007c0017t0013g0049
 109 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(106): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.458+809delT
c.458+809delT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 3/11 INFO_REALIGN_3_PRIME chr20 13073215
chr20:13073277 C
C
 G
G
 1 a0001c0001t0004g0226
a0001c0001t0004g0226
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.458+867C>G
c.458+867C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 3/11 chr20 13073277
chr20:13073280 C
C
 T
T
 6 a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
others(3): Show 
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0061g0274
a0001c0003t0012g0217
 6 HG00741.hp2
HG01243.hp2
HG01515.hp2
others(3): Show 
HG00741.hp2
HG01243.hp2
HG01515.hp2
HG02559.hp2
HG03209.hp2
NA20805.hp2
 intron_variant MODIFIER c.458+870C>T
c.458+870C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 3/11 chr20 13073280
chr20:13073557 A
A
 G
G
 80 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(77): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 80 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(77): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.459-792A>G
c.459-792A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 3/11 chr20 13073557
chr20:13073628 C
C
 T
T
 18 a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0005t0001g0089
others(15): Show 
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0014t0005g0083
 18 HG00140.hp1
HG00735.hp2
HG01123.hp2
others(15): Show 
HG00140.hp1
HG00735.hp2
HG01123.hp2
HG01258.hp1
HG01258.hp2
HG01433.hp1
HG01516.hp2
HG01978.hp2
HG02280.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02896.hp1
HG02897.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp2
HG03491.hp1
 intron_variant MODIFIER c.459-721C>T
c.459-721C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 3/11 chr20 13073628
chr20:13073659 A
A
 G
G
 109 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0096
others(106): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0014t0005g0083
a0004c0008t0005g0140
a0004c0008t0006g0033
 109 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(106): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01516.hp2
HG01891.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
HG06807.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp2
 intron_variant MODIFIER c.459-690A>G
c.459-690A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 3/11 chr20 13073659
chr20:13073740 G
G
 T
T
 1 a0005c0010t0037g0167
a0005c0010t0037g0167
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.459-609G>T
c.459-609G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 3/11 chr20 13073740
chr20:13073769 A
A
 G
G
 8 a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
others(5): Show 
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0061g0274
a0001c0003t0012g0217
a0002c0002t0001g0199
a0002c0002t0003g0198
 8 HG00741.hp2
HG01192.hp2
HG01243.hp2
others(5): Show 
HG00741.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01515.hp2
HG02559.hp2
HG03209.hp2
NA20805.hp2
 intron_variant MODIFIER c.459-580A>G
c.459-580A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 3/11 chr20 13073769
chr20:13073845 C
C
 T
T
 5 a0001c0001t0001g0159
a0001c0001t0004g0226
a0001c0001t0015g0265
others(2): Show 
a0001c0001t0001g0159
a0001c0001t0004g0226
a0001c0001t0015g0265
a0001c0005t0001g0080
a0001c0005t0005g0069
 5 HG01891.hp1
HG02145.hp2
HG02257.hp1
others(2): Show 
HG01891.hp1
HG02145.hp2
HG02257.hp1
HG06807.hp1
HG06807.hp2
 intron_variant MODIFIER c.459-504C>T
c.459-504C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 3/11 chr20 13073845
chr20:13073953 G
G
 A
A
 4 a0001c0001t0004g0251
a0001c0001t0007g0252
a0001c0001t0056g0253
others(1): Show 
a0001c0001t0004g0251
a0001c0001t0007g0252
a0001c0001t0056g0253
a0001c0003t0006g0040
 4 HG01978.hp1
HG02135.hp1
NA18956.hp1
others(1): Show 
HG01978.hp1
HG02135.hp1
NA18956.hp1
NA18973.hp2
 intron_variant MODIFIER c.459-396G>A
c.459-396G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 3/11 chr20 13073953
chr20:13073985 G
G
 A
A
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.459-364G>A
c.459-364G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 3/11 chr20 13073985
chr20:13074002 G
G
 A
A
 8 a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
others(5): Show 
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0061g0274
a0001c0003t0012g0217
a0002c0002t0001g0199
a0002c0002t0003g0198
 8 HG00741.hp2
HG01192.hp2
HG01243.hp2
others(5): Show 
HG00741.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01515.hp2
HG02559.hp2
HG03209.hp2
NA20805.hp2
 intron_variant MODIFIER c.459-347G>A
c.459-347G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 3/11 chr20 13074002
chr20:13074012 T
T
 G
G
 1 a0001c0001t0055g0287
a0001c0001t0055g0287
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.459-337T>G
c.459-337T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 3/11 chr20 13074012
chr20:13074044 G
G
 A
A
 9 a0001c0001t0001g0052
a0001c0001t0007g0228
a0001c0001t0019g0053
others(6): Show 
a0001c0001t0001g0052
a0001c0001t0007g0228
a0001c0001t0019g0053
a0001c0003t0010g0236
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
 9 HG01106.hp2
HG01891.hp2
HG03195.hp1
others(6): Show 
HG01106.hp2
HG01891.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03540.hp1
NA19030.hp2
NA21309.hp2
 intron_variant MODIFIER c.459-305G>A
c.459-305G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 3/11 chr20 13074044
chr20:13074260 T
T
 C
C
 5 a0001c0001t0001g0110
a0001c0001t0003g0112
a0001c0001t0013g0060
others(2): Show 
a0001c0001t0001g0110
a0001c0001t0003g0112
a0001c0001t0013g0060
a0001c0001t0020g0138
a0001c0001t0051g0075
 5 HG00323.hp1
HG01358.hp2
HG01496.hp1
others(2): Show 
HG00323.hp1
HG01358.hp2
HG01496.hp1
HG03017.hp2
HG03669.hp2
 intron_variant MODIFIER c.459-89T>C
c.459-89T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 3/11 chr20 13074260
chr20:13074610 C
C
 A
A
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.607+113C>A
c.607+113C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13074610
chr20:13074619 G
G
 GA
GA
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.607+130dupA
c.607+130dupA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 INFO_REALIGN_3_PRIME chr20 13074619
chr20:13074729 A
A
 G
G
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.607+232A>G
c.607+232A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13074729
chr20:13074948 C
C
 T
T
 1 a0001c0001t0054g0286
a0001c0001t0054g0286
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.607+451C>T
c.607+451C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13074948
chr20:13075070 G
G
 C
C
 1 a0002c0002t0001g0190
a0002c0002t0001g0190
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.607+573G>C
c.607+573G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13075070
chr20:13075115 G
G
 A
A
 1 a0001c0001t0051g0075
a0001c0001t0051g0075
 1 HG00323.hp1
HG00323.hp1
 intron_variant MODIFIER c.607+618G>A
c.607+618G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13075115
chr20:13075134 C
C
 CA
CA
 31 a0001c0001t0001g0095
a0001c0001t0001g0203
a0001c0001t0003g0072
others(28): Show 
a0001c0001t0001g0095
a0001c0001t0001g0203
a0001c0001t0003g0072
a0001c0001t0003g0112
a0001c0001t0004g0266
a0001c0001t0007g0216
a0001c0001t0007g0252
a0001c0001t0013g0059
a0001c0001t0015g0256
a0001c0001t0020g0138
a0001c0001t0045g0163
a0001c0003t0012g0217
a0001c0005t0004g0244
a0001c0005t0005g0081
a0001c0005t0016g0147
a0001c0005t0030g0285
a0002c0002t0002g0026
a0002c0002t0002g0029
a0002c0002t0003g0200
a0002c0002t0007g0279
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0026g0214
a0002c0002t0034g0024
a0002c0006t0005g0191
a0002c0006t0006g0016
a0002c0006t0006g0043
 31 HG00423.hp2
HG00741.hp1
HG01243.hp1
others(28): Show 
HG00423.hp2
HG00741.hp1
HG01243.hp1
HG01433.hp1
HG02074.hp1
HG02135.hp1
HG02280.hp2
HG02559.hp2
HG02647.hp1
HG02738.hp1
HG02897.hp2
HG03017.hp2
HG03041.hp1
HG03195.hp2
HG03209.hp2
HG03486.hp2
HG03669.hp2
HG04115.hp1
HG04228.hp1
NA18945.hp1
NA18949.hp2
NA18951.hp2
NA18968.hp1
NA18971.hp1
NA18981.hp1
NA18981.hp2
NA18986.hp1
NA19000.hp1
NA19062.hp1
NA19089.hp1
NA19091.hp1
 intron_variant MODIFIER c.607+653dupA
c.607+653dupA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 INFO_REALIGN_3_PRIME chr20 13075134
chr20:13075134 C
C
 CAAA
CAAA
 6 a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0046g0071
others(3): Show 
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0046g0071
a0001c0001t0061g0274
a0002c0002t0001g0199
a0002c0002t0003g0198
 6 HG00741.hp2
HG01192.hp2
HG01243.hp2
others(3): Show 
HG00741.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01515.hp2
NA20805.hp2
 intron_variant MODIFIER c.607+651_607+653dup
others(3): Show 
c.607+651_607+653dupAAA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 INFO_REALIGN_3_PRIME chr20 13075134
chr20:13075134 CA
CA
 C
C
 39 a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0003g0142
others(36): Show 
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0003g0142
a0001c0001t0007g0228
a0001c0001t0019g0053
a0001c0001t0021g0064
a0001c0001t0030g0261
a0001c0003t0010g0236
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0010g0231
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0002c0002t0031g0001
a0005c0011t0023g0166
a0007c0017t0013g0049
 39 HG00280.hp2
HG00639.hp1
HG00738.hp1
others(36): Show 
HG00280.hp2
HG00639.hp1
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01346.hp2
HG01891.hp2
HG02071.hp1
HG02109.hp1
HG02258.hp1
HG02451.hp1
HG02622.hp1
HG02922.hp2
HG03017.hp1
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG04199.hp1
HG04204.hp1
NA18522.hp1
NA18948.hp1
NA18948.hp2
NA18957.hp1
NA18967.hp2
NA18973.hp1
NA18982.hp1
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA19060.hp2
NA19070.hp2
NA19074.hp1
NA21309.hp2
 intron_variant MODIFIER c.607+653delA
c.607+653delA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 INFO_REALIGN_3_PRIME chr20 13075134
chr20:13075134 CAA
CAA
 C
C
 77 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(74): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0159
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0005t0001g0080
a0001c0005t0005g0069
a0004c0008t0005g0140
a0004c0008t0006g0033
 77 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(74): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02132.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18970.hp1
NA18971.hp2
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.607+652_607+653del
others(2): Show 
c.607+652_607+653delAA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 INFO_REALIGN_3_PRIME chr20 13075134
chr20:13075135 A
A
 C
C
 1 a0001c0003t0011g0152
a0001c0003t0011g0152
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.607+638A>C
c.607+638A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13075135
chr20:13075136 A
A
 C
C
 8 a0001c0001t0001g0052
a0001c0001t0007g0228
a0001c0001t0019g0053
others(5): Show 
a0001c0001t0001g0052
a0001c0001t0007g0228
a0001c0001t0019g0053
a0001c0003t0010g0236
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
 8 HG01106.hp2
HG01891.hp2
HG03195.hp1
others(5): Show 
HG01106.hp2
HG01891.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03540.hp1
NA21309.hp2
 intron_variant MODIFIER c.607+639A>C
c.607+639A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13075136
chr20:13075178 T
T
 C
C
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.607+681T>C
c.607+681T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13075178
chr20:13075422 C
C
 A
A
 14 a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0005t0001g0089
others(11): Show 
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0048g0164
a0001c0014t0005g0083
 14 HG00140.hp1
HG00735.hp2
HG01123.hp2
others(11): Show 
HG00140.hp1
HG00735.hp2
HG01123.hp2
HG01258.hp1
HG01258.hp2
HG01433.hp1
HG01516.hp2
HG01978.hp2
HG02723.hp2
HG02738.hp2
HG02896.hp1
HG02897.hp1
HG03139.hp1
HG03491.hp1
 intron_variant MODIFIER c.607+925C>A
c.607+925C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13075422
chr20:13075621 G
G
 A
A
 9 a0001c0001t0001g0052
a0001c0001t0007g0228
a0001c0001t0019g0053
others(6): Show 
a0001c0001t0001g0052
a0001c0001t0007g0228
a0001c0001t0019g0053
a0001c0003t0010g0236
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
 9 HG01106.hp2
HG01891.hp2
HG03195.hp1
others(6): Show 
HG01106.hp2
HG01891.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03540.hp1
NA19030.hp2
NA21309.hp2
 intron_variant MODIFIER c.607+1124G>A
c.607+1124G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13075621
chr20:13075673 G
G
 T
T
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.607+1176G>T
c.607+1176G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13075673
chr20:13075715 C
C
 A
A
 1 a0001c0005t0047g0068
a0001c0005t0047g0068
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.607+1218C>A
c.607+1218C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13075715
chr20:13075737 A
A
 G
G
 220 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(217): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0199
a0002c0002t0002g0007
a0002c0002t0003g0198
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 220 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(217): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18990.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.607+1240A>G
c.607+1240A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13075737
chr20:13075938 C
C
 T
T
 25 a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
others(22): Show 
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0007c0017t0013g0049
 25 HG00280.hp2
HG00639.hp1
HG00738.hp1
others(22): Show 
HG00280.hp2
HG00639.hp1
HG00738.hp1
HG01106.hp1
HG01109.hp1
HG01167.hp1
HG01346.hp2
HG02071.hp1
HG02922.hp2
HG03017.hp1
HG03491.hp2
HG03516.hp1
HG04199.hp1
HG04204.hp1
NA18522.hp1
NA18948.hp1
NA18957.hp1
NA18982.hp1
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA19012.hp1
NA19060.hp2
NA19070.hp2
NA19074.hp1
 intron_variant MODIFIER c.607+1441C>T
c.607+1441C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13075938
chr20:13075955 A
A
 C
C
 1 a0005c0010t0037g0167
a0005c0010t0037g0167
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.607+1458A>C
c.607+1458A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13075955
chr20:13076186 C
C
 T
T
 1 a0002c0002t0008g0004
a0002c0002t0008g0004
 1 NA19060.hp1
NA19060.hp1
 intron_variant MODIFIER c.607+1689C>T
c.607+1689C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13076186
chr20:13076213 T
T
 C
C
 7 a0001c0001t0001g0159
a0001c0001t0004g0226
a0001c0001t0015g0265
others(4): Show 
a0001c0001t0001g0159
a0001c0001t0004g0226
a0001c0001t0015g0265
a0001c0001t0045g0163
a0001c0003t0012g0217
a0001c0005t0001g0080
a0001c0005t0005g0069
 7 HG01891.hp1
HG02145.hp2
HG02257.hp1
others(4): Show 
HG01891.hp1
HG02145.hp2
HG02257.hp1
HG02559.hp2
HG03209.hp2
HG06807.hp1
HG06807.hp2
 intron_variant MODIFIER c.607+1716T>C
c.607+1716T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13076213
chr20:13076246 C
C
 T
T
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.607+1749C>T
c.607+1749C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13076246
chr20:13076459 G
G
 A
A
 2 a0001c0004t0001g0169
a0001c0009t0005g0186
a0001c0004t0001g0169
a0001c0009t0005g0186
 2 NA18985.hp2
NA19060.hp2
NA18985.hp2
NA19060.hp2
 intron_variant MODIFIER c.607+1962G>A
c.607+1962G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13076459
chr20:13076523 G
G
 GA
GA
 74 a0001c0001t0001g0095
a0001c0001t0001g0110
a0001c0001t0001g0134
others(71): Show 
a0001c0001t0001g0095
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0112
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0226
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0013g0060
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0265
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0033g0045
a0001c0001t0045g0163
a0001c0001t0051g0075
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0003t0005g0168
a0001c0003t0006g0040
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0005t0001g0080
a0001c0005t0005g0069
a0002c0002t0002g0007
a0004c0008t0028g0276
a0006c0016t0064g0248
a0008c0015t0002g0050
 74 HG00323.hp1
HG00408.hp2
HG00423.hp1
others(71): Show 
HG00323.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp1
HG00673.hp2
HG00741.hp1
HG01069.hp1
HG01071.hp1
HG01167.hp2
HG01243.hp1
HG01358.hp2
HG01496.hp1
HG01516.hp1
HG01891.hp1
HG01952.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02630.hp1
HG02647.hp2
HG02738.hp1
HG02809.hp2
HG03017.hp2
HG03209.hp2
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18968.hp1
NA18970.hp2
NA18973.hp2
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19004.hp1
NA19057.hp1
NA19063.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.607+2031dupA
c.607+2031dupA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 INFO_REALIGN_3_PRIME chr20 13076523
chr20:13076570 C
C
 T
T
 1 a0001c0005t0047g0068
a0001c0005t0047g0068
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.607+2073C>T
c.607+2073C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13076570
chr20:13076619 C
C
 CA
CA
 77 a0001c0001t0001g0095
a0001c0001t0001g0110
a0001c0001t0001g0134
others(74): Show 
a0001c0001t0001g0095
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0112
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0226
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0013g0060
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0265
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0033g0045
a0001c0001t0045g0163
a0001c0001t0051g0075
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0003t0005g0168
a0001c0003t0006g0040
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0004t0009g0185
a0001c0004t0042g0184
a0001c0005t0001g0080
a0001c0005t0005g0069
a0002c0002t0002g0007
a0002c0002t0002g0046
a0004c0008t0028g0276
a0006c0016t0064g0248
a0008c0015t0002g0050
 77 HG00323.hp1
HG00408.hp2
HG00423.hp1
others(74): Show 
HG00323.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp1
HG00673.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01071.hp1
HG01167.hp2
HG01243.hp1
HG01358.hp2
HG01496.hp1
HG01516.hp1
HG01891.hp1
HG01952.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02630.hp1
HG02647.hp2
HG02738.hp1
HG02809.hp2
HG03017.hp2
HG03209.hp2
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18968.hp1
NA18970.hp2
NA18973.hp2
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19004.hp1
NA19057.hp1
NA19063.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.607+2132dupA
c.607+2132dupA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 INFO_REALIGN_3_PRIME chr20 13076619
chr20:13076619 C
C
 CAAA
CAAA
 9 a0001c0001t0001g0052
a0001c0001t0007g0228
a0001c0001t0019g0053
others(6): Show 
a0001c0001t0001g0052
a0001c0001t0007g0228
a0001c0001t0019g0053
a0001c0003t0010g0236
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
 9 HG01106.hp2
HG01891.hp2
HG03195.hp1
others(6): Show 
HG01106.hp2
HG01891.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03540.hp1
NA19030.hp2
NA21309.hp2
 intron_variant MODIFIER c.607+2130_607+2132d
others(5): Show 
c.607+2130_607+2132dupAAA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 INFO_REALIGN_3_PRIME chr20 13076619
chr20:13076638 A
A
 G
G
 76 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(73): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 76 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(73): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.607+2141A>G
c.607+2141A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13076638
chr20:13076651 C
C
 T
T
 76 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(73): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 76 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(73): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.607+2154C>T
c.607+2154C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13076651
chr20:13076880 C
C
 T
T
 3 a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0019g0160
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0019g0160
 3 HG01167.hp2
HG03225.hp2
NA19240.hp1
HG01167.hp2
HG03225.hp2
NA19240.hp1
 intron_variant MODIFIER c.607+2383C>T
c.607+2383C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13076880
chr20:13076968 T
T
 A
A
 1 a0001c0004t0017g0205
a0001c0004t0017g0205
 1 NA19012.hp1
NA19012.hp1
 intron_variant MODIFIER c.607+2471T>A
c.607+2471T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13076968
chr20:13077245 G
G
 A
A
 219 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(216): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0199
a0002c0002t0002g0007
a0002c0002t0003g0198
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 219 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(216): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18990.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.607+2748G>A
c.607+2748G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13077245
chr20:13077261 G
G
 A
A
 112 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0096
others(109): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0047g0068
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0004c0008t0005g0140
a0004c0008t0006g0033
a0007c0017t0013g0049
 112 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(109): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp2
HG01891.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03041.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18522.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp2
 intron_variant MODIFIER c.607+2764G>A
c.607+2764G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13077261
chr20:13077322 AAAAT
AAAAT
 A
A
 77 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(74): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0009t0005g0186
a0004c0008t0005g0140
a0004c0008t0006g0033
 77 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(74): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18985.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.607+2834_607+2837d
others(6): Show 
c.607+2834_607+2837delAAAT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 INFO_REALIGN_3_PRIME chr20 13077322
chr20:13077373 C
C
 T
T
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.607+2876C>T
c.607+2876C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13077373
chr20:13077648 G
G
 A
A
 70 a0001c0001t0001g0095
a0001c0001t0001g0110
a0001c0001t0001g0134
others(67): Show 
a0001c0001t0001g0095
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0112
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0013g0060
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0033g0045
a0001c0001t0045g0163
a0001c0001t0051g0075
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0003t0005g0168
a0001c0003t0006g0040
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0002c0002t0002g0007
a0004c0008t0028g0276
a0006c0016t0064g0248
a0008c0015t0002g0050
 70 HG00323.hp1
HG00408.hp2
HG00423.hp1
others(67): Show 
HG00323.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp1
HG00673.hp2
HG00741.hp1
HG01069.hp1
HG01071.hp1
HG01167.hp2
HG01243.hp1
HG01358.hp2
HG01496.hp1
HG01516.hp1
HG01952.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02135.hp1
HG02145.hp1
HG02258.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02630.hp1
HG02647.hp2
HG02738.hp1
HG02809.hp2
HG03017.hp2
HG03209.hp2
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18968.hp1
NA18970.hp2
NA18973.hp2
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19004.hp1
NA19030.hp1
NA19057.hp1
NA19063.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.607+3151G>A
c.607+3151G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13077648
chr20:13077751 A
A
 T
T
 80 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(77): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0159
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0005t0001g0080
a0001c0005t0005g0069
a0004c0008t0005g0140
a0004c0008t0006g0033
 80 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(77): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.607+3254A>T
c.607+3254A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13077751
chr20:13077876 G
G
 A
A
 3 a0001c0001t0003g0112
a0001c0001t0020g0138
a0001c0001t0051g0075
a0001c0001t0003g0112
a0001c0001t0020g0138
a0001c0001t0051g0075
 3 HG00323.hp1
HG03017.hp2
HG03669.hp2
HG00323.hp1
HG03017.hp2
HG03669.hp2
 intron_variant MODIFIER c.607+3379G>A
c.607+3379G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13077876
chr20:13078049 T
T
 A
A
 26 a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
others(23): Show 
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0047g0068
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0007c0017t0013g0049
 26 HG00280.hp2
HG00639.hp1
HG00738.hp1
others(23): Show 
HG00280.hp2
HG00639.hp1
HG00738.hp1
HG01106.hp1
HG01109.hp1
HG01167.hp1
HG01346.hp2
HG02071.hp1
HG02615.hp2
HG02922.hp2
HG03017.hp1
HG03491.hp2
HG03516.hp1
HG04199.hp1
HG04204.hp1
NA18522.hp1
NA18948.hp1
NA18957.hp1
NA18982.hp1
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA19012.hp1
NA19060.hp2
NA19070.hp2
NA19074.hp1
 intron_variant MODIFIER c.607+3552T>A
c.607+3552T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13078049
chr20:13078216 T
T
 TATA
TATA
 219 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(216): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0199
a0002c0002t0002g0007
a0002c0002t0003g0198
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 219 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(216): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18990.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.607+3723_607+3725d
others(5): Show 
c.607+3723_607+3725dupATA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 INFO_REALIGN_3_PRIME chr20 13078216
chr20:13078278 A
A
 G
G
 2 a0001c0001t0021g0064
a0005c0011t0023g0166
a0001c0001t0021g0064
a0005c0011t0023g0166
 2 HG02258.hp1
HG02451.hp1
HG02258.hp1
HG02451.hp1
 intron_variant MODIFIER c.607+3781A>G
c.607+3781A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13078278
chr20:13078377 C
C
 G
G
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.607+3880C>G
c.607+3880C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13078377
chr20:13078474 T
T
 C
C
 1 a0001c0005t0025g0097
a0001c0005t0025g0097
 1 HG01516.hp2
HG01516.hp2
 intron_variant MODIFIER c.607+3977T>C
c.607+3977T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13078474
chr20:13078519 G
G
 A
A
 1 a0001c0005t0025g0097
a0001c0005t0025g0097
 1 HG01516.hp2
HG01516.hp2
 intron_variant MODIFIER c.607+4022G>A
c.607+4022G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13078519
chr20:13078557 C
C
 A
A
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.607+4060C>A
c.607+4060C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13078557
chr20:13078591 G
G
 A
A
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.607+4094G>A
c.607+4094G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13078591
chr20:13078625 A
A
 G
G
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.607+4128A>G
c.607+4128A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13078625
chr20:13078648 A
A
 G
G
 1 a0001c0005t0025g0097
a0001c0005t0025g0097
 1 HG01516.hp2
HG01516.hp2
 intron_variant MODIFIER c.607+4151A>G
c.607+4151A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13078648
chr20:13078743 TC
TC
 T
T
 16 a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0004g0219
others(13): Show 
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0007g0221
a0001c0001t0010g0215
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0019g0160
a0001c0003t0011g0082
a0001c0003t0012g0223
a0001c0003t0012g0245
 16 HG01167.hp2
HG01243.hp1
HG02055.hp2
others(13): Show 
HG01167.hp2
HG01243.hp1
HG02055.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02809.hp2
HG03225.hp2
HG03486.hp1
NA18522.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.607+4247delC
c.607+4247delC
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13078743
chr20:13078857 T
T
 C
C
 215 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(212): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0199
a0002c0002t0002g0007
a0002c0002t0003g0198
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 215 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(212): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18990.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.607+4360T>C
c.607+4360T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13078857
chr20:13078993 T
T
 C
C
 5 a0001c0001t0001g0110
a0001c0001t0003g0112
a0001c0001t0013g0060
others(2): Show 
a0001c0001t0001g0110
a0001c0001t0003g0112
a0001c0001t0013g0060
a0001c0001t0020g0138
a0001c0001t0051g0075
 5 HG00323.hp1
HG01358.hp2
HG01496.hp1
others(2): Show 
HG00323.hp1
HG01358.hp2
HG01496.hp1
HG03017.hp2
HG03669.hp2
 intron_variant MODIFIER c.607+4496T>C
c.607+4496T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13078993
chr20:13079021 A
A
 G
G
 1 a0001c0005t0016g0147
a0001c0005t0016g0147
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.607+4524A>G
c.607+4524A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13079021
chr20:13079045 G
G
 T
T
 4 a0001c0001t0001g0292
a0001c0001t0004g0229
a0001c0001t0004g0291
others(1): Show 
a0001c0001t0001g0292
a0001c0001t0004g0229
a0001c0001t0004g0291
a0001c0001t0007g0230
 4 HG02723.hp1
HG02922.hp1
HG03139.hp2
others(1): Show 
HG02723.hp1
HG02922.hp1
HG03139.hp2
NA20300.hp1
 intron_variant MODIFIER c.607+4548G>T
c.607+4548G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13079045
chr20:13079060 T
T
 C
C
 71 a0001c0001t0001g0095
a0001c0001t0001g0110
a0001c0001t0001g0134
others(68): Show 
a0001c0001t0001g0095
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0112
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0013g0060
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0033g0045
a0001c0001t0045g0163
a0001c0001t0051g0075
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0003t0005g0168
a0001c0003t0006g0040
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0002c0002t0002g0007
a0004c0008t0028g0276
a0006c0016t0064g0248
a0008c0015t0002g0050
 71 HG00323.hp1
HG00408.hp2
HG00423.hp1
others(68): Show 
HG00323.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp1
HG00673.hp2
HG00741.hp1
HG01069.hp1
HG01071.hp1
HG01167.hp2
HG01243.hp1
HG01358.hp2
HG01496.hp1
HG01516.hp1
HG01952.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02135.hp1
HG02145.hp1
HG02258.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02738.hp1
HG02809.hp2
HG03017.hp2
HG03209.hp2
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18968.hp1
NA18970.hp2
NA18973.hp2
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19004.hp1
NA19030.hp1
NA19057.hp1
NA19063.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.607+4563T>C
c.607+4563T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13079060
chr20:13079115 A
A
 C
C
 1 a0001c0012t0023g0165
a0001c0012t0023g0165
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.607+4618A>C
c.607+4618A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13079115
chr20:13079140 C
C
 T
T
 3 a0001c0001t0027g0263
a0001c0001t0030g0261
a0001c0003t0012g0262
a0001c0001t0027g0263
a0001c0001t0030g0261
a0001c0003t0012g0262
 3 HG01109.hp2
HG02109.hp1
HG02630.hp2
HG01109.hp2
HG02109.hp1
HG02630.hp2
 intron_variant MODIFIER c.607+4643C>T
c.607+4643C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13079140
chr20:13079161 G
G
 A
A
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.607+4664G>A
c.607+4664G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13079161
chr20:13079176 T
T
 C
C
 1 a0001c0001t0001g0141
a0001c0001t0001g0141
 1 HG00140.hp2
HG00140.hp2
 intron_variant MODIFIER c.607+4679T>C
c.607+4679T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13079176
chr20:13079209 C
C
 T
T
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.607+4712C>T
c.607+4712C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13079209
chr20:13079210 G
G
 A
A
 9 a0002c0002t0002g0009
a0002c0002t0002g0025
a0002c0002t0002g0026
others(6): Show 
a0002c0002t0002g0009
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0030
a0002c0002t0004g0255
a0002c0002t0034g0024
a0002c0002t0036g0061
a0002c0006t0006g0028
 9 HG00673.hp1
HG02056.hp2
HG02071.hp2
others(6): Show 
HG00673.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
NA18961.hp1
NA18988.hp1
NA19010.hp2
NA19011.hp2
NA19062.hp1
 intron_variant MODIFIER c.607+4713G>A
c.607+4713G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13079210
chr20:13079258 A
A
 C
C
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.607+4761A>C
c.607+4761A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13079258
chr20:13079306 C
C
 T
T
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.607+4809C>T
c.607+4809C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13079306
chr20:13079391 G
G
 A
A
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.607+4894G>A
c.607+4894G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13079391
chr20:13079437 C
C
 T
T
 219 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(216): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0199
a0002c0002t0002g0007
a0002c0002t0003g0198
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 219 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(216): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18990.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.607+4940C>T
c.607+4940C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13079437
chr20:13079483 A
A
 G
G
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.607+4986A>G
c.607+4986A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13079483
chr20:13079524 T
T
 C
C
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.607+5027T>C
c.607+5027T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13079524
chr20:13079572 G
G
 A
A
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.607+5075G>A
c.607+5075G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13079572
chr20:13079618 C
C
 T
T
 2 a0001c0001t0045g0163
a0001c0003t0012g0217
a0001c0001t0045g0163
a0001c0003t0012g0217
 2 HG02559.hp2
HG03209.hp2
HG02559.hp2
HG03209.hp2
 intron_variant MODIFIER c.607+5121C>T
c.607+5121C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13079618
chr20:13079683 G
G
 A
A
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.607+5186G>A
c.607+5186G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13079683
chr20:13079837 G
G
 A
A
 1 a0002c0002t0016g0114
a0002c0002t0016g0114
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.607+5340G>A
c.607+5340G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13079837
chr20:13079942 C
C
 T
T
 5 a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
others(2): Show 
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0059g0290
 5 HG01884.hp2
HG02055.hp1
HG02109.hp2
others(2): Show 
HG01884.hp2
HG02055.hp1
HG02109.hp2
NA19030.hp1
NA20805.hp1
 intron_variant MODIFIER c.607+5445C>T
c.607+5445C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13079942
chr20:13079985 C
C
 T
T
 4 a0001c0001t0003g0179
a0001c0001t0055g0287
a0001c0003t0010g0271
others(1): Show 
a0001c0001t0003g0179
a0001c0001t0055g0287
a0001c0003t0010g0271
a0001c0003t0010g0272
 4 HG01069.hp1
HG01071.hp1
HG04115.hp2
others(1): Show 
HG01069.hp1
HG01071.hp1
HG04115.hp2
NA18747.hp2
 intron_variant MODIFIER c.607+5488C>T
c.607+5488C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13079985
chr20:13080015 G
G
 T
T
 5 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
others(2): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
 5 HG02809.hp1
HG02896.hp2
HG02965.hp1
others(2): Show 
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03516.hp2
 intron_variant MODIFIER c.607+5518G>T
c.607+5518G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13080015
chr20:13080110 T
T
 C
C
 1 a0001c0001t0020g0138
a0001c0001t0020g0138
 1 HG03669.hp2
HG03669.hp2
 intron_variant MODIFIER c.607+5613T>C
c.607+5613T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13080110
chr20:13080141 G
G
 A
A
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.607+5644G>A
c.607+5644G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13080141
chr20:13080195 C
C
 T
T
 1 a0001c0001t0007g0216
a0001c0001t0007g0216
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.607+5698C>T
c.607+5698C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13080195
chr20:13080232 A
A
 G
G
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.607+5735A>G
c.607+5735A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13080232
chr20:13080238 G
G
 A
A
 1 a0001c0005t0047g0068
a0001c0005t0047g0068
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.607+5741G>A
c.607+5741G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13080238
chr20:13080294 G
G
 C
C
 1 a0001c0001t0014g0116
a0001c0001t0014g0116
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.607+5797G>C
c.607+5797G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13080294
chr20:13080380 C
C
 T
T
 1 a0001c0001t0003g0126
a0001c0001t0003g0126
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.607+5883C>T
c.607+5883C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13080380
chr20:13080398 C
C
 T
T
 1 a0001c0001t0019g0053
a0001c0001t0019g0053
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.607+5901C>T
c.607+5901C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13080398
chr20:13080421 T
T
 C
C
 1 a0001c0004t0017g0205
a0001c0004t0017g0205
 1 NA19012.hp1
NA19012.hp1
 intron_variant MODIFIER c.607+5924T>C
c.607+5924T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13080421
chr20:13080433 G
G
 A
A
 1 a0002c0002t0036g0061
a0002c0002t0036g0061
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.607+5936G>A
c.607+5936G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13080433
chr20:13080485 T
T
 C
C
 155 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(152): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0002c0002t0002g0007
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0006c0016t0064g0248
a0008c0015t0002g0050
 155 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(152): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01516.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp2
HG02922.hp1
HG02965.hp2
HG03017.hp2
HG03041.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04199.hp2
HG04228.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18982.hp2
NA18990.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19063.hp1
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp2
 intron_variant MODIFIER c.607+5988T>C
c.607+5988T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13080485
chr20:13080486 G
G
 A
A
 59 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(56): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0247
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0028g0249
a0001c0003t0041g0107
a0001c0003t0049g0077
a0004c0008t0005g0140
a0004c0008t0006g0033
 59 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(56): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02602.hp1
HG03239.hp2
HG03654.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.607+5989G>A
c.607+5989G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13080486
chr20:13080489 C
C
 A
A
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.607+5992C>A
c.607+5992C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13080489
chr20:13080511 C
C
 CAAAAAAA
others(2): Show 
CAAAAAAAAA
 89 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0096
others(86): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0159
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0060g0267
a0001c0004t0003g0175
a0001c0005t0001g0080
a0001c0005t0005g0069
a0004c0008t0005g0140
a0004c0008t0006g0033
 89 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(86): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02055.hp1
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03540.hp1
HG03654.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.607+6016_607+6024d
others(11): Show 
c.607+6016_607+6024dupAAAAAAAAA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 INFO_REALIGN_3_PRIME chr20 13080511
chr20:13080511 C
C
 CAAAAAAA
others(3): Show 
CAAAAAAAAAA
 26 a0001c0001t0001g0108
a0001c0001t0012g0259
a0001c0001t0015g0265
others(23): Show 
a0001c0001t0001g0108
a0001c0001t0012g0259
a0001c0001t0015g0265
a0001c0003t0012g0258
a0001c0003t0058g0257
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0009t0005g0186
a0001c0009t0005g0204
a0007c0017t0013g0049
 26 HG00280.hp2
HG00639.hp1
HG00738.hp1
others(23): Show 
HG00280.hp2
HG00639.hp1
HG00738.hp1
HG01106.hp1
HG01109.hp1
HG01167.hp1
HG01261.hp1
HG02071.hp1
HG02145.hp2
HG02280.hp1
HG02922.hp2
HG03017.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG04204.hp1
NA18948.hp1
NA18982.hp1
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA19012.hp1
NA19043.hp1
NA19060.hp2
NA19070.hp2
NA19074.hp1
 intron_variant MODIFIER c.607+6015_607+6024d
others(12): Show 
c.607+6015_607+6024dupAAAAAAAAAA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 INFO_REALIGN_3_PRIME chr20 13080511
chr20:13080511 C
C
 CAAAAAAA
others(4): Show 
CAAAAAAAAAAA
 3 a0001c0004t0009g0208
a0001c0005t0047g0068
a0001c0009t0011g0161
a0001c0004t0009g0208
a0001c0005t0047g0068
a0001c0009t0011g0161
 3 HG01346.hp2
HG02615.hp2
NA18522.hp1
HG01346.hp2
HG02615.hp2
NA18522.hp1
 intron_variant MODIFIER c.607+6024_607+6025i
others(13): Show 
c.607+6024_607+6025insAAAAAAAAAAA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 INFO_REALIGN_3_PRIME chr20 13080511
chr20:13080511 C
C
 CAAAAAAA
others(5): Show 
CAAAAAAAAAAAA
 1 a0001c0004t0009g0207
a0001c0004t0009g0207
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.607+6024_607+6025i
others(14): Show 
c.607+6024_607+6025insAAAAAAAAAAAA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 INFO_REALIGN_3_PRIME chr20 13080511
chr20:13080511 C
C
 CAAAAAAA
others(6): Show 
CAAAAAAAAAAAAA
 63 a0001c0001t0001g0095
a0001c0001t0001g0110
a0001c0001t0001g0134
others(60): Show 
a0001c0001t0001g0095
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0181
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0112
a0001c0001t0003g0179
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0010g0215
a0001c0001t0013g0060
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0045g0163
a0001c0001t0051g0075
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0003t0006g0040
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0002c0002t0002g0007
a0004c0008t0028g0276
a0006c0016t0064g0248
a0008c0015t0002g0050
 63 HG00323.hp1
HG00408.hp2
HG00423.hp1
others(60): Show 
HG00323.hp1
HG00408.hp2
HG00423.hp1
HG00673.hp2
HG01069.hp1
HG01071.hp1
HG01167.hp2
HG01243.hp1
HG01358.hp2
HG01496.hp1
HG01516.hp1
HG01952.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp2
HG02074.hp2
HG02258.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02738.hp1
HG02809.hp2
HG03017.hp2
HG03209.hp2
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp2
NA18747.hp2
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18968.hp1
NA18970.hp2
NA18973.hp2
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19004.hp1
NA19030.hp1
NA19057.hp1
NA19063.hp1
NA19077.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.607+6024_607+6025i
others(15): Show 
c.607+6024_607+6025insAAAAAAAAAAAAA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 INFO_REALIGN_3_PRIME chr20 13080511
chr20:13080511 C
C
 CAAAAAAA
others(7): Show 
CAAAAAAAAAAAAAA
 7 a0001c0001t0001g0173
a0001c0001t0002g0011
a0001c0001t0003g0072
others(4): Show 
a0001c0001t0001g0173
a0001c0001t0002g0011
a0001c0001t0003g0072
a0001c0001t0003g0180
a0001c0001t0007g0252
a0001c0001t0010g0220
a0001c0001t0033g0045
 7 HG00438.hp1
HG00609.hp1
HG00741.hp1
others(4): Show 
HG00438.hp1
HG00609.hp1
HG00741.hp1
HG02135.hp1
HG02145.hp1
NA18943.hp2
NA19086.hp2
 intron_variant MODIFIER c.607+6024_607+6025i
others(16): Show 
c.607+6024_607+6025insAAAAAAAAAAAAAA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 INFO_REALIGN_3_PRIME chr20 13080511
chr20:13080511 C
C
 CAAAAAAA
others(8): Show 
CAAAAAAAAAAAAAAA
 1 a0001c0003t0005g0168
a0001c0003t0005g0168
 1 HG02056.hp1
HG02056.hp1
 intron_variant MODIFIER c.607+6024_607+6025i
others(17): Show 
c.607+6024_607+6025insAAAAAAAAAAAAAAA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 INFO_REALIGN_3_PRIME chr20 13080511
chr20:13080549 G
G
 A
A
 4 a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
others(1): Show 
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
 4 HG01884.hp2
HG02055.hp1
HG02109.hp2
others(1): Show 
HG01884.hp2
HG02055.hp1
HG02109.hp2
NA20805.hp1
 intron_variant MODIFIER c.607+6052G>A
c.607+6052G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13080549
chr20:13080628 C
C
 T
T
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.607+6131C>T
c.607+6131C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13080628
chr20:13080639 T
T
 TA
TA
 9 a0001c0001t0001g0052
a0001c0001t0007g0228
a0001c0001t0019g0053
others(6): Show 
a0001c0001t0001g0052
a0001c0001t0007g0228
a0001c0001t0019g0053
a0001c0003t0010g0236
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
 9 HG01106.hp2
HG01891.hp2
HG03195.hp1
others(6): Show 
HG01106.hp2
HG01891.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03540.hp1
NA19030.hp2
NA21309.hp2
 intron_variant MODIFIER c.607+6151dupA
c.607+6151dupA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 INFO_REALIGN_3_PRIME chr20 13080639
chr20:13080654 A
A
 C
C
 155 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(152): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0002c0002t0002g0007
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0006c0016t0064g0248
a0008c0015t0002g0050
 155 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(152): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01516.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp2
HG02922.hp1
HG02965.hp2
HG03017.hp2
HG03041.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04199.hp2
HG04228.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18982.hp2
NA18990.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19063.hp1
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp2
 intron_variant MODIFIER c.607+6157A>C
c.607+6157A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13080654
chr20:13080655 C
C
 A
A
 1 a0001c0004t0014g0137
a0001c0004t0014g0137
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.607+6158C>A
c.607+6158C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13080655
chr20:13080658 G
G
 A
A
 1 a0001c0001t0027g0263
a0001c0001t0027g0263
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.607+6161G>A
c.607+6161G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13080658
chr20:13080703 A
A
 T
T
 1 a0002c0002t0008g0006
a0002c0002t0008g0006
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.607+6206A>T
c.607+6206A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13080703
chr20:13080774 C
C
 G
G
 1 a0002c0002t0008g0006
a0002c0002t0008g0006
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.607+6277C>G
c.607+6277C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13080774
chr20:13080796 A
A
 G
G
 1 a0002c0002t0002g0019
a0002c0002t0002g0019
 1 NA18951.hp1
NA18951.hp1
 intron_variant MODIFIER c.607+6299A>G
c.607+6299A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13080796
chr20:13081101 A
A
 G
G
 68 a0001c0001t0001g0095
a0001c0001t0001g0110
a0001c0001t0001g0134
others(65): Show 
a0001c0001t0001g0095
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0112
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0013g0060
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0033g0045
a0001c0001t0051g0075
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0003t0005g0168
a0001c0003t0006g0040
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0002c0002t0002g0007
a0004c0008t0028g0276
a0006c0016t0064g0248
a0008c0015t0002g0050
 68 HG00323.hp1
HG00408.hp2
HG00423.hp1
others(65): Show 
HG00323.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp1
HG00673.hp2
HG00741.hp1
HG01069.hp1
HG01071.hp1
HG01167.hp2
HG01243.hp1
HG01358.hp2
HG01496.hp1
HG01516.hp1
HG01952.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02135.hp1
HG02145.hp1
HG02258.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02738.hp1
HG02809.hp2
HG03017.hp2
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18968.hp1
NA18970.hp2
NA18973.hp2
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19004.hp1
NA19057.hp1
NA19063.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.607+6604A>G
c.607+6604A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13081101
chr20:13081120 G
G
 A
A
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.607+6623G>A
c.607+6623G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13081120
chr20:13081133 A
A
 G
G
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.607+6636A>G
c.607+6636A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13081133
chr20:13081206 G
G
 T
T
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.607+6709G>T
c.607+6709G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13081206
chr20:13081226 A
A
 T
T
 3 a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0019g0160
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0019g0160
 3 HG01167.hp2
HG03225.hp2
NA19240.hp1
HG01167.hp2
HG03225.hp2
NA19240.hp1
 intron_variant MODIFIER c.607+6729A>T
c.607+6729A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13081226
chr20:13081480 G
G
 A
A
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.607+6983G>A
c.607+6983G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13081480
chr20:13081689 G
G
 A
A
 5 a0001c0001t0001g0159
a0001c0001t0004g0226
a0001c0001t0015g0265
others(2): Show 
a0001c0001t0001g0159
a0001c0001t0004g0226
a0001c0001t0015g0265
a0001c0005t0001g0080
a0001c0005t0005g0069
 5 HG01891.hp1
HG02145.hp2
HG02257.hp1
others(2): Show 
HG01891.hp1
HG02145.hp2
HG02257.hp1
HG06807.hp1
HG06807.hp2
 intron_variant MODIFIER c.607+7192G>A
c.607+7192G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13081689
chr20:13081921 T
T
 G
G
 80 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(77): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0159
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0005t0001g0080
a0001c0005t0005g0069
a0004c0008t0005g0140
a0004c0008t0006g0033
 80 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(77): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.607+7424T>G
c.607+7424T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13081921
chr20:13081994 C
C
 T
T
 1 a0001c0001t0003g0072
a0001c0001t0003g0072
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.607+7497C>T
c.607+7497C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13081994
chr20:13082094 A
A
 T
T
 68 a0001c0001t0001g0095
a0001c0001t0001g0110
a0001c0001t0001g0134
others(65): Show 
a0001c0001t0001g0095
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0112
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0013g0060
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0033g0045
a0001c0001t0051g0075
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0003t0005g0168
a0001c0003t0006g0040
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0002c0002t0002g0007
a0004c0008t0028g0276
a0006c0016t0064g0248
a0008c0015t0002g0050
 68 HG00323.hp1
HG00408.hp2
HG00423.hp1
others(65): Show 
HG00323.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp1
HG00673.hp2
HG00741.hp1
HG01069.hp1
HG01071.hp1
HG01167.hp2
HG01243.hp1
HG01358.hp2
HG01496.hp1
HG01516.hp1
HG01952.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02135.hp1
HG02145.hp1
HG02258.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02738.hp1
HG02809.hp2
HG03017.hp2
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18968.hp1
NA18970.hp2
NA18973.hp2
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19004.hp1
NA19057.hp1
NA19063.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.607+7597A>T
c.607+7597A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13082094
chr20:13082302 G
G
 A
A
 1 a0002c0006t0006g0036
a0002c0006t0006g0036
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.607+7805G>A
c.607+7805G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13082302
chr20:13082415 C
C
 T
T
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.607+7918C>T
c.607+7918C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13082415
chr20:13082463 A
A
 G
G
 9 a0001c0001t0001g0052
a0001c0001t0007g0228
a0001c0001t0019g0053
others(6): Show 
a0001c0001t0001g0052
a0001c0001t0007g0228
a0001c0001t0019g0053
a0001c0003t0010g0236
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
 9 HG01106.hp2
HG01891.hp2
HG03195.hp1
others(6): Show 
HG01106.hp2
HG01891.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03540.hp1
NA19030.hp2
NA21309.hp2
 intron_variant MODIFIER c.607+7966A>G
c.607+7966A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13082463
chr20:13082475 C
C
 CT
CT
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.607+7980dupT
c.607+7980dupT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 INFO_REALIGN_3_PRIME chr20 13082475
chr20:13082559 G
G
 A
A
 1 a0001c0001t0018g0090
a0001c0001t0018g0090
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.607+8062G>A
c.607+8062G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13082559
chr20:13082566 C
C
 CTA
CTA
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.607+8070_607+8071i
others(4): Show 
c.607+8070_607+8071insAT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 INFO_REALIGN_3_PRIME chr20 13082566
chr20:13082638 A
A
 C
C
 155 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(152): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0002c0002t0002g0007
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0006c0016t0064g0248
a0008c0015t0002g0050
 155 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(152): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01516.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp2
HG02922.hp1
HG02965.hp2
HG03017.hp2
HG03041.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04199.hp2
HG04228.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18982.hp2
NA18990.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19063.hp1
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp2
 intron_variant MODIFIER c.607+8141A>C
c.607+8141A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13082638
chr20:13082733 G
G
 A
A
 1 a0002c0002t0004g0255
a0002c0002t0004g0255
 1 HG02056.hp2
HG02056.hp2
 intron_variant MODIFIER c.607+8236G>A
c.607+8236G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13082733
chr20:13083280 C
C
 G
G
 97 a0001c0001t0001g0095
a0001c0001t0001g0110
a0001c0001t0001g0134
others(94): Show 
a0001c0001t0001g0095
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0112
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0013g0060
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0033g0045
a0001c0001t0045g0163
a0001c0001t0051g0075
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0003t0005g0168
a0001c0003t0006g0040
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0047g0068
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0002c0002t0002g0007
a0004c0008t0028g0276
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 97 HG00280.hp2
HG00323.hp1
HG00408.hp2
others(94): Show 
HG00280.hp2
HG00323.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp1
HG00639.hp1
HG00673.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01346.hp2
HG01358.hp2
HG01496.hp1
HG01516.hp1
HG01952.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02135.hp1
HG02145.hp1
HG02258.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02738.hp1
HG02809.hp2
HG02922.hp2
HG03017.hp1
HG03017.hp2
HG03209.hp2
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18957.hp1
NA18959.hp1
NA18968.hp1
NA18970.hp2
NA18973.hp2
NA18982.hp1
NA18985.hp2
NA18986.hp2
NA18990.hp1
NA18998.hp1
NA19000.hp1
NA19001.hp1
NA19004.hp1
NA19012.hp1
NA19030.hp1
NA19057.hp1
NA19060.hp2
NA19063.hp1
NA19070.hp2
NA19074.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.608-7803C>G
c.608-7803C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13083280
chr20:13083381 G
G
 A
A
 74 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(71): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 74 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(71): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.608-7702G>A
c.608-7702G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13083381
chr20:13083434 G
G
 A
A
 68 a0001c0001t0001g0095
a0001c0001t0001g0110
a0001c0001t0001g0134
others(65): Show 
a0001c0001t0001g0095
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0112
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0013g0060
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0033g0045
a0001c0001t0051g0075
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0003t0005g0168
a0001c0003t0006g0040
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0002c0002t0002g0007
a0004c0008t0028g0276
a0006c0016t0064g0248
a0008c0015t0002g0050
 68 HG00323.hp1
HG00408.hp2
HG00423.hp1
others(65): Show 
HG00323.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp1
HG00673.hp2
HG00741.hp1
HG01069.hp1
HG01071.hp1
HG01167.hp2
HG01243.hp1
HG01358.hp2
HG01496.hp1
HG01516.hp1
HG01952.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02135.hp1
HG02145.hp1
HG02258.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02738.hp1
HG02809.hp2
HG03017.hp2
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18968.hp1
NA18970.hp2
NA18973.hp2
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19004.hp1
NA19057.hp1
NA19063.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.608-7649G>A
c.608-7649G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13083434
chr20:13083450 T
T
 C
C
 3 a0001c0001t0001g0181
a0001c0001t0003g0180
a0002c0002t0002g0007
a0001c0001t0001g0181
a0001c0001t0003g0180
a0002c0002t0002g0007
 3 NA18943.hp2
NA19057.hp1
NA19089.hp2
NA18943.hp2
NA19057.hp1
NA19089.hp2
 intron_variant MODIFIER c.608-7633T>C
c.608-7633T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13083450
chr20:13083658 G
G
 A
A
 74 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(71): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 74 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(71): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.608-7425G>A
c.608-7425G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13083658
chr20:13083724 C
C
 T
T
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.608-7359C>T
c.608-7359C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13083724
chr20:13083771 T
T
 C
C
 1 a0001c0001t0010g0215
a0001c0001t0010g0215
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.608-7312T>C
c.608-7312T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13083771
chr20:13083808 A
A
 G
G
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.608-7275A>G
c.608-7275A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13083808
chr20:13083815 C
C
 T
T
 1 a0002c0002t0001g0102
a0002c0002t0001g0102
 1 HG02015.hp1
HG02015.hp1
 intron_variant MODIFIER c.608-7268C>T
c.608-7268C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13083815
chr20:13083819 C
C
 T
T
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.608-7264C>T
c.608-7264C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13083819
chr20:13083898 C
C
 T
T
 14 a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0005t0001g0089
others(11): Show 
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0048g0164
a0001c0014t0005g0083
 14 HG00140.hp1
HG00735.hp2
HG01123.hp2
others(11): Show 
HG00140.hp1
HG00735.hp2
HG01123.hp2
HG01258.hp1
HG01258.hp2
HG01433.hp1
HG01516.hp2
HG01978.hp2
HG02723.hp2
HG02738.hp2
HG02896.hp1
HG02897.hp1
HG03139.hp1
HG03491.hp1
 intron_variant MODIFIER c.608-7185C>T
c.608-7185C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13083898
chr20:13083924 A
A
 G
G
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.608-7159A>G
c.608-7159A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13083924
chr20:13083966 G
G
 A
A
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.608-7117G>A
c.608-7117G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13083966
chr20:13084093 C
C
 T
T
 1 a0001c0004t0016g0091
a0001c0004t0016g0091
 1 HG00639.hp1
HG00639.hp1
 intron_variant MODIFIER c.608-6990C>T
c.608-6990C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13084093
chr20:13084178 C
C
 T
T
 24 a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0014g0074
others(21): Show 
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0046g0071
a0001c0001t0061g0274
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0014t0005g0083
a0002c0002t0001g0199
a0002c0002t0003g0198
 24 HG00140.hp1
HG00735.hp2
HG00741.hp2
others(21): Show 
HG00140.hp1
HG00735.hp2
HG00741.hp2
HG01123.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01433.hp1
HG01515.hp2
HG01516.hp2
HG01978.hp2
HG02280.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02896.hp1
HG02897.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp2
HG03491.hp1
NA20805.hp2
 intron_variant MODIFIER c.608-6905C>T
c.608-6905C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13084178
chr20:13084273 C
C
 T
T
 1 a0001c0001t0005g0128
a0001c0001t0005g0128
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.608-6810C>T
c.608-6810C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13084273
chr20:13084286 A
A
 G
G
 8 a0001c0001t0001g0052
a0001c0001t0007g0228
a0001c0001t0019g0053
others(5): Show 
a0001c0001t0001g0052
a0001c0001t0007g0228
a0001c0001t0019g0053
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
 8 HG01106.hp2
HG01891.hp2
HG03195.hp1
others(5): Show 
HG01106.hp2
HG01891.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03540.hp1
NA19030.hp2
 intron_variant MODIFIER c.608-6797A>G
c.608-6797A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13084286
chr20:13084288 A
A
 C
C
 71 a0001c0001t0001g0095
a0001c0001t0001g0110
a0001c0001t0001g0134
others(68): Show 
a0001c0001t0001g0095
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0112
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0013g0060
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0033g0045
a0001c0001t0045g0163
a0001c0001t0051g0075
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0003t0005g0168
a0001c0003t0006g0040
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0002c0002t0002g0007
a0004c0008t0028g0276
a0006c0016t0064g0248
a0008c0015t0002g0050
 71 HG00323.hp1
HG00408.hp2
HG00423.hp1
others(68): Show 
HG00323.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp1
HG00673.hp2
HG00741.hp1
HG01069.hp1
HG01071.hp1
HG01167.hp2
HG01243.hp1
HG01358.hp2
HG01496.hp1
HG01516.hp1
HG01952.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02135.hp1
HG02145.hp1
HG02258.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02738.hp1
HG02809.hp2
HG03017.hp2
HG03209.hp2
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18968.hp1
NA18970.hp2
NA18973.hp2
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19004.hp1
NA19030.hp1
NA19057.hp1
NA19063.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.608-6795A>C
c.608-6795A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13084288
chr20:13084374 G
G
 C
C
 219 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(216): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0199
a0002c0002t0002g0007
a0002c0002t0003g0198
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 219 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(216): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18990.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.608-6709G>C
c.608-6709G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13084374
chr20:13084414 T
T
 C
C
 3 a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0008g0005
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0008g0005
 3 HG00673.hp2
NA18946.hp2
NA19004.hp1
HG00673.hp2
NA18946.hp2
NA19004.hp1
 intron_variant MODIFIER c.608-6669T>C
c.608-6669T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13084414
chr20:13084430 A
A
 G
G
 1 a0002c0002t0002g0046
a0002c0002t0002g0046
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.608-6653A>G
c.608-6653A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13084430
chr20:13084490 G
G
 T
T
 9 a0002c0002t0002g0009
a0002c0002t0002g0025
a0002c0002t0002g0026
others(6): Show 
a0002c0002t0002g0009
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0030
a0002c0002t0004g0255
a0002c0002t0034g0024
a0002c0002t0036g0061
a0002c0006t0006g0028
 9 HG00673.hp1
HG02056.hp2
HG02071.hp2
others(6): Show 
HG00673.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
NA18961.hp1
NA18988.hp1
NA19010.hp2
NA19011.hp2
NA19062.hp1
 intron_variant MODIFIER c.608-6593G>T
c.608-6593G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13084490
chr20:13084600 TTAAGA
TTAAGA
 T
T
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.608-6478_608-6474d
others(7): Show 
c.608-6478_608-6474delATAAG
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 INFO_REALIGN_3_PRIME chr20 13084600
chr20:13084628 C
C
 T
T
 1 a0001c0001t0001g0103
a0001c0001t0001g0103
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.608-6455C>T
c.608-6455C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13084628
chr20:13085064 C
C
 G
G
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.608-6019C>G
c.608-6019C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13085064
chr20:13085085 G
G
 A
A
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.608-5998G>A
c.608-5998G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13085085
chr20:13085255 C
C
 G
G
 148 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(145): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0002c0002t0002g0007
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0006c0016t0064g0248
a0008c0015t0002g0050
 148 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(145): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01516.hp1
HG01884.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp2
HG02922.hp1
HG02965.hp2
HG03017.hp2
HG03041.hp2
HG03139.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04199.hp2
HG04228.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18982.hp2
NA18990.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19063.hp1
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
 intron_variant MODIFIER c.608-5828C>G
c.608-5828C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13085255
chr20:13085300 T
T
 C
C
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.608-5783T>C
c.608-5783T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13085300
chr20:13085351 G
G
 A
A
 4 a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
others(1): Show 
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
 4 HG01884.hp2
HG02055.hp1
HG02109.hp2
others(1): Show 
HG01884.hp2
HG02055.hp1
HG02109.hp2
NA20805.hp1
 intron_variant MODIFIER c.608-5732G>A
c.608-5732G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13085351
chr20:13085553 T
T
 C
C
 2 a0001c0001t0045g0163
a0001c0003t0012g0217
a0001c0001t0045g0163
a0001c0003t0012g0217
 2 HG02559.hp2
HG03209.hp2
HG02559.hp2
HG03209.hp2
 intron_variant MODIFIER c.608-5530T>C
c.608-5530T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13085553
chr20:13085570 C
C
 G
G
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.608-5513C>G
c.608-5513C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13085570
chr20:13085626 G
G
 T
T
 59 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(56): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0247
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0028g0249
a0001c0003t0041g0107
a0001c0003t0049g0077
a0004c0008t0005g0140
a0004c0008t0006g0033
 59 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(56): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02602.hp1
HG03239.hp2
HG03654.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.608-5457G>T
c.608-5457G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13085626
chr20:13085763 T
T
 C
C
 1 a0001c0012t0023g0165
a0001c0012t0023g0165
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.608-5320T>C
c.608-5320T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13085763
chr20:13085833 C
C
 T
T
 8 a0001c0001t0001g0052
a0001c0001t0007g0228
a0001c0001t0019g0053
others(5): Show 
a0001c0001t0001g0052
a0001c0001t0007g0228
a0001c0001t0019g0053
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
 8 HG01106.hp2
HG01891.hp2
HG03195.hp1
others(5): Show 
HG01106.hp2
HG01891.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03540.hp1
NA19030.hp2
 intron_variant MODIFIER c.608-5250C>T
c.608-5250C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13085833
chr20:13085853 A
A
 G
G
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.608-5230A>G
c.608-5230A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13085853
chr20:13085904 A
A
 T
T
 1 a0001c0012t0023g0165
a0001c0012t0023g0165
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.608-5179A>T
c.608-5179A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13085904
chr20:13085924 A
A
 G
G
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.608-5159A>G
c.608-5159A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13085924
chr20:13086039 T
T
 C
C
 2 a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0271
a0001c0003t0010g0272
 2 HG01069.hp1
HG01071.hp1
HG01069.hp1
HG01071.hp1
 intron_variant MODIFIER c.608-5044T>C
c.608-5044T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13086039
chr20:13086103 C
C
 T
T
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.608-4980C>T
c.608-4980C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13086103
chr20:13086233 T
T
 C
C
 1 a0001c0012t0023g0165
a0001c0012t0023g0165
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.608-4850T>C
c.608-4850T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13086233
chr20:13086253 G
G
 A
A
 5 a0001c0001t0001g0159
a0001c0001t0004g0226
a0001c0001t0015g0265
others(2): Show 
a0001c0001t0001g0159
a0001c0001t0004g0226
a0001c0001t0015g0265
a0001c0005t0001g0080
a0001c0005t0005g0069
 5 HG01891.hp1
HG02145.hp2
HG02257.hp1
others(2): Show 
HG01891.hp1
HG02145.hp2
HG02257.hp1
HG06807.hp1
HG06807.hp2
 intron_variant MODIFIER c.608-4830G>A
c.608-4830G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13086253
chr20:13086272 C
C
 G
G
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.608-4811C>G
c.608-4811C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13086272
chr20:13086358 T
T
 A
A
 26 a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
others(23): Show 
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0047g0068
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0007c0017t0013g0049
 26 HG00280.hp2
HG00639.hp1
HG00738.hp1
others(23): Show 
HG00280.hp2
HG00639.hp1
HG00738.hp1
HG01106.hp1
HG01109.hp1
HG01167.hp1
HG01346.hp2
HG02071.hp1
HG02615.hp2
HG02922.hp2
HG03017.hp1
HG03491.hp2
HG03516.hp1
HG04199.hp1
HG04204.hp1
NA18522.hp1
NA18948.hp1
NA18957.hp1
NA18982.hp1
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA19012.hp1
NA19060.hp2
NA19070.hp2
NA19074.hp1
 intron_variant MODIFIER c.608-4725T>A
c.608-4725T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13086358
chr20:13086488 A
A
 G
G
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.608-4595A>G
c.608-4595A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13086488
chr20:13086543 C
C
 T
T
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.608-4540C>T
c.608-4540C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13086543
chr20:13086590 A
A
 G
G
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.608-4493A>G
c.608-4493A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13086590
chr20:13086643 C
C
 T
T
 3 a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
 3 NA18949.hp2
NA18964.hp1
NA18965.hp2
NA18949.hp2
NA18964.hp1
NA18965.hp2
 intron_variant MODIFIER c.608-4440C>T
c.608-4440C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13086643
chr20:13086653 A
A
 C
C
 148 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(145): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0002c0002t0002g0007
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0006c0016t0064g0248
a0008c0015t0002g0050
 148 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(145): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01516.hp1
HG01884.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp2
HG02922.hp1
HG02965.hp2
HG03017.hp2
HG03041.hp2
HG03139.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04199.hp2
HG04228.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18982.hp2
NA18990.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19063.hp1
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
 intron_variant MODIFIER c.608-4430A>C
c.608-4430A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13086653
chr20:13086725 T
T
 G
G
 24 a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
others(21): Show 
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0007c0017t0013g0049
 24 HG00280.hp2
HG00639.hp1
HG00738.hp1
others(21): Show 
HG00280.hp2
HG00639.hp1
HG00738.hp1
HG01106.hp1
HG01109.hp1
HG01167.hp1
HG01346.hp2
HG02071.hp1
HG03017.hp1
HG03491.hp2
HG03516.hp1
HG04199.hp1
HG04204.hp1
NA18522.hp1
NA18948.hp1
NA18957.hp1
NA18982.hp1
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA19012.hp1
NA19060.hp2
NA19070.hp2
NA19074.hp1
 intron_variant MODIFIER c.608-4358T>G
c.608-4358T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13086725
chr20:13086730 T
T
 C
C
 2 a0002c0002t0001g0199
a0002c0002t0003g0198
a0002c0002t0001g0199
a0002c0002t0003g0198
 2 HG01192.hp2
HG01255.hp2
HG01192.hp2
HG01255.hp2
 intron_variant MODIFIER c.608-4353T>C
c.608-4353T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13086730
chr20:13086916 G
G
 T
T
 9 a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0046g0071
others(6): Show 
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0046g0071
a0001c0001t0061g0274
a0001c0005t0004g0244
a0001c0005t0005g0081
a0001c0005t0030g0285
a0002c0002t0001g0199
a0002c0002t0003g0198
 9 HG00741.hp2
HG01192.hp2
HG01243.hp2
others(6): Show 
HG00741.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01515.hp2
HG02647.hp1
HG03041.hp1
HG03195.hp2
NA20805.hp2
 intron_variant MODIFIER c.608-4167G>T
c.608-4167G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13086916
chr20:13087071 T
T
 C
C
 148 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(145): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0002c0002t0002g0007
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0006c0016t0064g0248
a0008c0015t0002g0050
 148 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(145): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01516.hp1
HG01884.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp2
HG02922.hp1
HG02965.hp2
HG03017.hp2
HG03041.hp2
HG03139.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04199.hp2
HG04228.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18982.hp2
NA18990.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19063.hp1
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
 intron_variant MODIFIER c.608-4012T>C
c.608-4012T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13087071
chr20:13087079 A
A
 C
C
 1 a0001c0009t0011g0161
a0001c0009t0011g0161
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.608-4004A>C
c.608-4004A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13087079
chr20:13087104 G
G
 A
A
 1 a0001c0001t0001g0117
a0001c0001t0001g0117
 1 NA18945.hp2
NA18945.hp2
 intron_variant MODIFIER c.608-3979G>A
c.608-3979G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13087104
chr20:13087133 C
C
 G
G
 8 a0001c0001t0001g0052
a0001c0001t0007g0228
a0001c0001t0019g0053
others(5): Show 
a0001c0001t0001g0052
a0001c0001t0007g0228
a0001c0001t0019g0053
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
 8 HG01106.hp2
HG01891.hp2
HG03195.hp1
others(5): Show 
HG01106.hp2
HG01891.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03540.hp1
NA19030.hp2
 intron_variant MODIFIER c.608-3950C>G
c.608-3950C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13087133
chr20:13087205 C
C
 T
T
 4 a0001c0001t0004g0288
a0001c0001t0015g0264
a0001c0001t0063g0232
others(1): Show 
a0001c0001t0004g0288
a0001c0001t0015g0264
a0001c0001t0063g0232
a0001c0003t0060g0267
 4 HG02615.hp1
HG02965.hp2
HG03471.hp1
others(1): Show 
HG02615.hp1
HG02965.hp2
HG03471.hp1
NA19043.hp2
 intron_variant MODIFIER c.608-3878C>T
c.608-3878C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13087205
chr20:13087264 G
G
 A
A
 1 a0001c0001t0005g0092
a0001c0001t0005g0092
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.608-3819G>A
c.608-3819G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13087264
chr20:13087296 C
C
 T
T
 1 a0001c0001t0007g0221
a0001c0001t0007g0221
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.608-3787C>T
c.608-3787C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13087296
chr20:13087574 A
A
 C
C
 1 a0001c0001t0027g0268
a0001c0001t0027g0268
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.608-3509A>C
c.608-3509A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13087574
chr20:13087616 C
C
 T
T
 3 a0002c0002t0002g0019
a0002c0002t0004g0254
a0002c0018t0002g0054
a0002c0002t0002g0019
a0002c0002t0004g0254
a0002c0018t0002g0054
 3 NA18951.hp1
NA19057.hp2
NA19086.hp1
NA18951.hp1
NA19057.hp2
NA19086.hp1
 intron_variant MODIFIER c.608-3467C>T
c.608-3467C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13087616
chr20:13087617 G
G
 A
A
 11 a0001c0001t0001g0052
a0001c0001t0007g0228
a0001c0001t0019g0053
others(8): Show 
a0001c0001t0001g0052
a0001c0001t0007g0228
a0001c0001t0019g0053
a0001c0001t0045g0163
a0001c0003t0010g0236
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
 11 HG01106.hp2
HG01891.hp2
HG02559.hp2
others(8): Show 
HG01106.hp2
HG01891.hp2
HG02559.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03540.hp1
NA19030.hp2
NA21309.hp2
 intron_variant MODIFIER c.608-3466G>A
c.608-3466G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13087617
chr20:13087665 A
A
 G
G
 5 a0001c0001t0001g0159
a0001c0001t0004g0226
a0001c0001t0015g0265
others(2): Show 
a0001c0001t0001g0159
a0001c0001t0004g0226
a0001c0001t0015g0265
a0001c0005t0001g0080
a0001c0005t0005g0069
 5 HG01891.hp1
HG02145.hp2
HG02257.hp1
others(2): Show 
HG01891.hp1
HG02145.hp2
HG02257.hp1
HG06807.hp1
HG06807.hp2
 intron_variant MODIFIER c.608-3418A>G
c.608-3418A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13087665
chr20:13087799 C
C
 T
T
 8 a0001c0001t0001g0052
a0001c0001t0007g0228
a0001c0001t0019g0053
others(5): Show 
a0001c0001t0001g0052
a0001c0001t0007g0228
a0001c0001t0019g0053
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
 8 HG01106.hp2
HG01891.hp2
HG03195.hp1
others(5): Show 
HG01106.hp2
HG01891.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03540.hp1
NA19030.hp2
 intron_variant MODIFIER c.608-3284C>T
c.608-3284C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13087799
chr20:13087879 T
T
 C
C
 3 a0001c0001t0001g0203
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0001g0203
a0001c0001t0004g0242
a0001c0001t0004g0243
 3 NA18944.hp2
NA19000.hp1
NA19001.hp1
NA18944.hp2
NA19000.hp1
NA19001.hp1
 intron_variant MODIFIER c.608-3204T>C
c.608-3204T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13087879
chr20:13087891 G
G
 C
C
 9 a0001c0001t0001g0052
a0001c0001t0007g0228
a0001c0001t0019g0053
others(6): Show 
a0001c0001t0001g0052
a0001c0001t0007g0228
a0001c0001t0019g0053
a0001c0003t0010g0236
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
 9 HG01106.hp2
HG01891.hp2
HG03195.hp1
others(6): Show 
HG01106.hp2
HG01891.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03540.hp1
NA19030.hp2
NA21309.hp2
 intron_variant MODIFIER c.608-3192G>C
c.608-3192G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13087891
chr20:13087959 C
C
 A
A
 4 a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
others(1): Show 
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
 4 HG01884.hp2
HG02055.hp1
HG02109.hp2
others(1): Show 
HG01884.hp2
HG02055.hp1
HG02109.hp2
NA20805.hp1
 intron_variant MODIFIER c.608-3124C>A
c.608-3124C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13087959
chr20:13088120 T
T
 A
A
 1 a0002c0002t0004g0255
a0002c0002t0004g0255
 1 HG02056.hp2
HG02056.hp2
 intron_variant MODIFIER c.608-2963T>A
c.608-2963T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13088120
chr20:13088179 T
T
 A
A
 9 a0001c0001t0001g0052
a0001c0001t0007g0228
a0001c0001t0019g0053
others(6): Show 
a0001c0001t0001g0052
a0001c0001t0007g0228
a0001c0001t0019g0053
a0001c0003t0010g0236
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
 9 HG01106.hp2
HG01891.hp2
HG03195.hp1
others(6): Show 
HG01106.hp2
HG01891.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03540.hp1
NA19030.hp2
NA21309.hp2
 intron_variant MODIFIER c.608-2904T>A
c.608-2904T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13088179
chr20:13088229 C
C
 T
T
 1 a0001c0001t0044g0073
a0001c0001t0044g0073
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.608-2854C>T
c.608-2854C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13088229
chr20:13088309 G
G
 T
T
 23 a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
others(20): Show 
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0009t0005g0204
a0001c0009t0011g0161
a0007c0017t0013g0049
 23 HG00280.hp2
HG00639.hp1
HG00738.hp1
others(20): Show 
HG00280.hp2
HG00639.hp1
HG00738.hp1
HG01106.hp1
HG01109.hp1
HG01167.hp1
HG01346.hp2
HG02071.hp1
HG02922.hp2
HG03017.hp1
HG03491.hp2
HG03516.hp1
HG04199.hp1
HG04204.hp1
NA18522.hp1
NA18948.hp1
NA18957.hp1
NA18982.hp1
NA18986.hp2
NA18998.hp1
NA19012.hp1
NA19070.hp2
NA19074.hp1
 intron_variant MODIFIER c.608-2774G>T
c.608-2774G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13088309
chr20:13088480 G
G
 A
A
 68 a0001c0001t0001g0095
a0001c0001t0001g0110
a0001c0001t0001g0134
others(65): Show 
a0001c0001t0001g0095
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0112
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0252
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0013g0060
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0033g0045
a0001c0001t0051g0075
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0003t0005g0168
a0001c0003t0006g0040
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0002c0002t0002g0007
a0004c0008t0028g0276
a0006c0016t0064g0248
a0008c0015t0002g0050
 68 HG00323.hp1
HG00408.hp2
HG00423.hp1
others(65): Show 
HG00323.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp1
HG00673.hp2
HG00741.hp1
HG01069.hp1
HG01071.hp1
HG01167.hp2
HG01243.hp1
HG01358.hp2
HG01496.hp1
HG01516.hp1
HG01952.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02135.hp1
HG02145.hp1
HG02258.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02738.hp1
HG02809.hp2
HG03017.hp2
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18968.hp1
NA18973.hp2
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19004.hp1
NA19030.hp1
NA19057.hp1
NA19063.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.608-2603G>A
c.608-2603G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13088480
chr20:13088492 G
G
 A
A
 9 a0001c0001t0001g0052
a0001c0001t0007g0228
a0001c0001t0019g0053
others(6): Show 
a0001c0001t0001g0052
a0001c0001t0007g0228
a0001c0001t0019g0053
a0001c0003t0010g0236
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
 9 HG01106.hp2
HG01891.hp2
HG03195.hp1
others(6): Show 
HG01106.hp2
HG01891.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03540.hp1
NA19030.hp2
NA21309.hp2
 intron_variant MODIFIER c.608-2591G>A
c.608-2591G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13088492
chr20:13088548 C
C
 A
A
 1 a0001c0001t0010g0220
a0001c0001t0010g0220
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.608-2535C>A
c.608-2535C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13088548
chr20:13088613 G
G
 A
A
 1 a0001c0005t0047g0068
a0001c0005t0047g0068
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.608-2470G>A
c.608-2470G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13088613
chr20:13088712 A
A
 G
G
 159 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(156): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0002c0002t0002g0007
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0006c0016t0064g0248
a0008c0015t0002g0050
 159 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(156): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01516.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp2
HG02922.hp1
HG02965.hp2
HG03017.hp2
HG03041.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04199.hp2
HG04228.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18982.hp2
NA18990.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19063.hp1
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608-2371A>G
c.608-2371A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13088712
chr20:13088768 G
G
 A
A
 2 a0001c0001t0027g0263
a0001c0001t0030g0261
a0001c0001t0027g0263
a0001c0001t0030g0261
 2 HG02109.hp1
HG02630.hp2
HG02109.hp1
HG02630.hp2
 intron_variant MODIFIER c.608-2315G>A
c.608-2315G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13088768
chr20:13088784 A
A
 AT
AT
 11 a0001c0005t0016g0147
a0002c0002t0003g0196
a0002c0002t0008g0012
others(8): Show 
a0001c0005t0016g0147
a0002c0002t0003g0196
a0002c0002t0008g0012
a0002c0002t0035g0056
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0039
a0003c0007t0006g0002
 11 HG01168.hp2
HG02280.hp2
HG03239.hp1
others(8): Show 
HG01168.hp2
HG02280.hp2
HG03239.hp1
NA18949.hp2
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18985.hp1
NA19091.hp1
 intron_variant MODIFIER c.608-2281dupT
c.608-2281dupT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 INFO_REALIGN_3_PRIME chr20 13088784
chr20:13088784 A
A
 ATT
ATT
 99 a0001c0001t0001g0149
a0001c0001t0001g0182
a0001c0001t0001g0187
others(96): Show 
a0001c0001t0001g0149
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0003g0076
a0001c0001t0004g0238
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0014g0074
a0001c0001t0021g0064
a0001c0001t0044g0073
a0001c0001t0046g0071
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0037
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0005c0011t0023g0166
a0007c0017t0013g0049
 99 HG00140.hp1
HG00280.hp2
HG00423.hp2
others(96): Show 
HG00140.hp1
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01167.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01978.hp2
HG02015.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp2
HG02132.hp1
HG02155.hp1
HG02258.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02622.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG03017.hp1
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG04115.hp1
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18977.hp1
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18998.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19066.hp1
NA19070.hp2
NA19074.hp1
NA19086.hp1
NA19089.hp1
NA20752.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.608-2282_608-2281d
others(4): Show 
c.608-2282_608-2281dupTT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 INFO_REALIGN_3_PRIME chr20 13088784
chr20:13088784 A
A
 ATTT
ATTT
 132 a0001c0001t0001g0052
a0001c0001t0001g0098
a0001c0001t0001g0099
others(129): Show 
a0001c0001t0001g0052
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0070
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0142
a0001c0001t0003g0179
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0282
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0017g0205
a0001c0005t0001g0080
a0001c0005t0010g0231
a0001c0005t0047g0068
a0001c0012t0023g0165
a0002c0002t0002g0026
a0002c0002t0002g0046
a0002c0002t0062g0280
a0002c0006t0006g0016
a0002c0006t0006g0036
a0003c0007t0006g0010
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0006c0016t0064g0248
 132 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(129): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp1
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG02055.hp2
HG02074.hp1
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04199.hp2
HG04228.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18990.hp2
NA18998.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp2
 intron_variant MODIFIER c.608-2283_608-2281d
others(5): Show 
c.608-2283_608-2281dupTTT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 INFO_REALIGN_3_PRIME chr20 13088784
chr20:13088784 A
A
 ATTTT
ATTTT
 40 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0110
others(37): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0110
a0001c0001t0001g0143
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0188
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0072
a0001c0001t0003g0112
a0001c0001t0003g0135
a0001c0001t0003g0157
a0001c0001t0003g0180
a0001c0001t0004g0226
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0291
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0033g0045
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0003t0006g0040
a0001c0003t0010g0277
a0001c0005t0005g0069
a0002c0002t0002g0007
a0005c0010t0037g0167
a0008c0015t0002g0050
 40 HG00438.hp1
HG00609.hp1
HG00609.hp2
others(37): Show 
HG00438.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00741.hp1
HG01358.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp1
HG02074.hp2
HG02109.hp2
HG02135.hp1
HG02257.hp1
HG02738.hp1
HG02922.hp1
HG03017.hp2
HG03130.hp2
HG06807.hp1
HG06807.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18964.hp2
NA18973.hp2
NA18990.hp1
NA19000.hp2
NA19001.hp1
NA19057.hp1
NA19063.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA20805.hp1
 intron_variant MODIFIER c.608-2284_608-2281d
others(6): Show 
c.608-2284_608-2281dupTTTT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 INFO_REALIGN_3_PRIME chr20 13088784
chr20:13088784 A
A
 ATTTTT
ATTTTT
 6 a0001c0001t0001g0095
a0001c0001t0001g0134
a0001c0001t0001g0144
others(3): Show 
a0001c0001t0001g0095
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0203
a0001c0001t0008g0005
a0001c0003t0010g0289
 6 HG00673.hp2
NA18946.hp2
NA18959.hp1
others(3): Show 
HG00673.hp2
NA18946.hp2
NA18959.hp1
NA18968.hp1
NA19000.hp1
NA19004.hp1
 intron_variant MODIFIER c.608-2285_608-2281d
others(7): Show 
c.608-2285_608-2281dupTTTTT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 INFO_REALIGN_3_PRIME chr20 13088784
chr20:13088843 C
C
 G
G
 1 a0002c0002t0002g0062
a0002c0002t0002g0062
 1 NA18957.hp2
NA18957.hp2
 intron_variant MODIFIER c.608-2240C>G
c.608-2240C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13088843
chr20:13088853 A
A
 G
G
 1 a0001c0001t0002g0011
a0001c0001t0002g0011
 1 HG00438.hp1
HG00438.hp1
 intron_variant MODIFIER c.608-2230A>G
c.608-2230A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13088853
chr20:13088861 C
C
 T
T
 24 a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0014g0074
others(21): Show 
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0046g0071
a0001c0001t0061g0274
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0014t0005g0083
a0002c0002t0001g0199
a0002c0002t0003g0198
 24 HG00140.hp1
HG00735.hp2
HG00741.hp2
others(21): Show 
HG00140.hp1
HG00735.hp2
HG00741.hp2
HG01123.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01433.hp1
HG01515.hp2
HG01516.hp2
HG01978.hp2
HG02280.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02896.hp1
HG02897.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp2
HG03491.hp1
NA20805.hp2
 intron_variant MODIFIER c.608-2222C>T
c.608-2222C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13088861
chr20:13088880 C
C
 T
T
 3 a0002c0002t0001g0212
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0001g0212
a0002c0002t0026g0213
a0002c0002t0026g0214
 3 HG02895.hp1
HG02897.hp2
HG03130.hp1
HG02895.hp1
HG02897.hp2
HG03130.hp1
 intron_variant MODIFIER c.608-2203C>T
c.608-2203C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13088880
chr20:13088910 C
C
 T
T
 26 a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
others(23): Show 
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0047g0068
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0007c0017t0013g0049
 26 HG00280.hp2
HG00639.hp1
HG00738.hp1
others(23): Show 
HG00280.hp2
HG00639.hp1
HG00738.hp1
HG01106.hp1
HG01109.hp1
HG01167.hp1
HG01346.hp2
HG02071.hp1
HG02615.hp2
HG02922.hp2
HG03017.hp1
HG03491.hp2
HG03516.hp1
HG04199.hp1
HG04204.hp1
NA18522.hp1
NA18948.hp1
NA18957.hp1
NA18982.hp1
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA19012.hp1
NA19060.hp2
NA19070.hp2
NA19074.hp1
 intron_variant MODIFIER c.608-2173C>T
c.608-2173C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13088910
chr20:13088921 C
C
 T
T
 159 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(156): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0002c0002t0002g0007
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0006c0016t0064g0248
a0008c0015t0002g0050
 159 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(156): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01516.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp2
HG02922.hp1
HG02965.hp2
HG03017.hp2
HG03041.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04199.hp2
HG04228.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18982.hp2
NA18990.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19063.hp1
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608-2162C>T
c.608-2162C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13088921
chr20:13089126 G
G
 A
A
 80 a0001c0001t0001g0052
a0001c0001t0001g0095
a0001c0001t0001g0110
others(77): Show 
a0001c0001t0001g0052
a0001c0001t0001g0095
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0112
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0013g0060
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0033g0045
a0001c0001t0045g0163
a0001c0001t0051g0075
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0003t0005g0168
a0001c0003t0006g0040
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0002c0002t0002g0007
a0004c0008t0028g0276
a0006c0016t0064g0248
a0008c0015t0002g0050
 80 HG00323.hp1
HG00408.hp2
HG00423.hp1
others(77): Show 
HG00323.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp1
HG00673.hp2
HG00741.hp1
HG01069.hp1
HG01071.hp1
HG01106.hp2
HG01167.hp2
HG01243.hp1
HG01358.hp2
HG01496.hp1
HG01516.hp1
HG01891.hp2
HG01952.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02135.hp1
HG02145.hp1
HG02258.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02738.hp1
HG02809.hp2
HG03017.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18968.hp1
NA18970.hp2
NA18973.hp2
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19004.hp1
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19063.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA21309.hp2
 intron_variant MODIFIER c.608-1957G>A
c.608-1957G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13089126
chr20:13089373 A
A
 G
G
 5 a0001c0001t0001g0159
a0001c0001t0004g0226
a0001c0001t0015g0265
others(2): Show 
a0001c0001t0001g0159
a0001c0001t0004g0226
a0001c0001t0015g0265
a0001c0005t0001g0080
a0001c0005t0005g0069
 5 HG01891.hp1
HG02145.hp2
HG02257.hp1
others(2): Show 
HG01891.hp1
HG02145.hp2
HG02257.hp1
HG06807.hp1
HG06807.hp2
 intron_variant MODIFIER c.608-1710A>G
c.608-1710A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13089373
chr20:13089392 C
C
 T
T
 75 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.608-1691C>T
c.608-1691C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13089392
chr20:13089491 T
T
 TA
TA
 71 a0001c0001t0001g0095
a0001c0001t0001g0110
a0001c0001t0001g0134
others(68): Show 
a0001c0001t0001g0095
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0112
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0013g0060
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0033g0045
a0001c0001t0045g0163
a0001c0001t0051g0075
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0003t0005g0168
a0001c0003t0006g0040
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0002c0002t0002g0007
a0004c0008t0028g0276
a0006c0016t0064g0248
a0008c0015t0002g0050
 71 HG00323.hp1
HG00408.hp2
HG00423.hp1
others(68): Show 
HG00323.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp1
HG00673.hp2
HG00741.hp1
HG01069.hp1
HG01071.hp1
HG01167.hp2
HG01243.hp1
HG01358.hp2
HG01496.hp1
HG01516.hp1
HG01952.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02135.hp1
HG02145.hp1
HG02258.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02738.hp1
HG02809.hp2
HG03017.hp2
HG03209.hp2
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18968.hp1
NA18970.hp2
NA18973.hp2
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19004.hp1
NA19030.hp1
NA19057.hp1
NA19063.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.608-1585dupA
c.608-1585dupA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 INFO_REALIGN_3_PRIME chr20 13089491
chr20:13089510 G
G
 T
T
 1 a0002c0002t0031g0001
a0002c0002t0031g0001
 1 NA18948.hp2
NA18948.hp2
 intron_variant MODIFIER c.608-1573G>T
c.608-1573G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13089510
chr20:13089554 A
A
 G
G
 155 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(152): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0002c0002t0002g0007
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0006c0016t0064g0248
a0008c0015t0002g0050
 155 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(152): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01516.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp2
HG02922.hp1
HG02965.hp2
HG03017.hp2
HG03041.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04199.hp2
HG04228.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18982.hp2
NA18990.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19063.hp1
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp2
 intron_variant MODIFIER c.608-1529A>G
c.608-1529A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13089554
chr20:13089556 C
C
 T
T
 74 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(71): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 74 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(71): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.608-1527C>T
c.608-1527C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13089556
chr20:13089596 C
C
 T
T
 1 a0001c0012t0023g0165
a0001c0012t0023g0165
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.608-1487C>T
c.608-1487C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13089596
chr20:13089712 A
A
 G
G
 159 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(156): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0002c0002t0002g0007
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0006c0016t0064g0248
a0008c0015t0002g0050
 159 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(156): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01516.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp2
HG02922.hp1
HG02965.hp2
HG03017.hp2
HG03041.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04199.hp2
HG04228.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18982.hp2
NA18990.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19063.hp1
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608-1371A>G
c.608-1371A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13089712
chr20:13089773 G
G
 A
A
 74 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(71): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 74 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(71): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.608-1310G>A
c.608-1310G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13089773
chr20:13089777 T
T
 C
C
 185 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(182): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0047g0068
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0002c0002t0002g0007
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 185 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(182): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01516.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18990.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608-1306T>C
c.608-1306T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13089777
chr20:13089785 C
C
 CA
CA
 34 a0001c0001t0001g0159
a0001c0001t0004g0225
a0001c0001t0004g0226
others(31): Show 
a0001c0001t0001g0159
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0015g0265
a0001c0001t0021g0064
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0005g0069
a0001c0009t0005g0204
a0001c0009t0011g0161
a0002c0002t0002g0014
a0002c0002t0004g0255
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0005g0191
a0005c0010t0037g0167
a0007c0017t0013g0049
 34 HG00280.hp2
HG00738.hp1
HG01106.hp1
others(31): Show 
HG00280.hp2
HG00738.hp1
HG01106.hp1
HG01109.hp1
HG01167.hp1
HG01884.hp1
HG01891.hp1
HG02056.hp2
HG02071.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02922.hp2
HG03017.hp1
HG03491.hp2
HG04199.hp1
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18948.hp1
NA18949.hp2
NA18957.hp1
NA18967.hp1
NA18977.hp1
NA18982.hp1
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA19012.hp1
NA19070.hp2
NA19074.hp1
NA21309.hp1
 intron_variant MODIFIER c.608-1279dupA
c.608-1279dupA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 INFO_REALIGN_3_PRIME chr20 13089785
chr20:13089785 C
C
 CAA
CAA
 19 a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0004t0003g0094
others(16): Show 
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0004t0003g0094
a0001c0004t0009g0208
a0001c0004t0016g0091
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0018g0084
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0014t0005g0083
a0005c0011t0023g0166
 19 HG00140.hp1
HG00639.hp1
HG01123.hp2
others(16): Show 
HG00140.hp1
HG00639.hp1
HG01123.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp2
HG01433.hp1
HG01516.hp2
HG01978.hp2
HG02451.hp1
HG02615.hp2
HG02723.hp2
HG02738.hp2
HG02896.hp1
HG02897.hp1
HG03139.hp1
HG03491.hp1
HG03516.hp1
NA19060.hp2
 intron_variant MODIFIER c.608-1280_608-1279d
others(4): Show 
c.608-1280_608-1279dupAA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 INFO_REALIGN_3_PRIME chr20 13089785
chr20:13089795 A
A
 C
C
 1 a0001c0001t0010g0215
a0001c0001t0010g0215
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.608-1288A>C
c.608-1288A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13089795
chr20:13089797 A
A
 G
G
 159 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(156): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0002c0002t0002g0007
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0006c0016t0064g0248
a0008c0015t0002g0050
 159 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(156): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01516.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp2
HG02922.hp1
HG02965.hp2
HG03017.hp2
HG03041.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04199.hp2
HG04228.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18982.hp2
NA18990.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19063.hp1
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608-1286A>G
c.608-1286A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13089797
chr20:13089804 AC
AC
 A
A
 72 a0001c0001t0001g0095
a0001c0001t0001g0110
a0001c0001t0001g0134
others(69): Show 
a0001c0001t0001g0095
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0112
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0013g0060
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0033g0045
a0001c0001t0045g0163
a0001c0001t0051g0075
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0003t0005g0168
a0001c0003t0006g0040
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0005t0016g0147
a0002c0002t0002g0007
a0004c0008t0028g0276
a0006c0016t0064g0248
a0008c0015t0002g0050
 72 HG00323.hp1
HG00408.hp2
HG00423.hp1
others(69): Show 
HG00323.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp1
HG00673.hp2
HG00741.hp1
HG01069.hp1
HG01071.hp1
HG01167.hp2
HG01243.hp1
HG01358.hp2
HG01496.hp1
HG01516.hp1
HG01952.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02135.hp1
HG02145.hp1
HG02258.hp2
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02738.hp1
HG02809.hp2
HG03017.hp2
HG03209.hp2
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18968.hp1
NA18970.hp2
NA18973.hp2
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19004.hp1
NA19030.hp1
NA19057.hp1
NA19063.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.608-1278delC
c.608-1278delC
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13089804
chr20:13089805 C
C
 A
A
 154 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0096
others(151): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0199
a0002c0002t0003g0198
a0002c0002t0035g0056
a0004c0008t0005g0140
a0004c0008t0006g0033
a0005c0010t0037g0167
a0005c0011t0023g0166
a0007c0017t0013g0049
 154 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(151): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01515.hp2
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG02015.hp1
HG02055.hp1
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18948.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.608-1278C>A
c.608-1278C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13089805
chr20:13089841 G
G
 A
A
 60 a0001c0001t0001g0159
a0001c0001t0004g0225
a0001c0001t0004g0226
others(57): Show 
a0001c0001t0001g0159
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0014g0074
a0001c0001t0015g0265
a0001c0001t0021g0064
a0001c0001t0044g0073
a0001c0001t0046g0071
a0001c0001t0061g0274
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0199
a0002c0002t0003g0198
a0005c0010t0037g0167
a0005c0011t0023g0166
a0007c0017t0013g0049
 60 HG00140.hp1
HG00280.hp2
HG00639.hp1
others(57): Show 
HG00140.hp1
HG00280.hp2
HG00639.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01167.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp2
HG01433.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp1
HG01891.hp1
HG01978.hp2
HG02071.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02451.hp1
HG02615.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG03017.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG04199.hp1
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18948.hp1
NA18957.hp1
NA18982.hp1
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA19012.hp1
NA19060.hp2
NA19070.hp2
NA19074.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.608-1242G>A
c.608-1242G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13089841
chr20:13089869 T
T
 C
C
 25 a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
others(22): Show 
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0007c0017t0013g0049
 25 HG00280.hp2
HG00639.hp1
HG00738.hp1
others(22): Show 
HG00280.hp2
HG00639.hp1
HG00738.hp1
HG01106.hp1
HG01109.hp1
HG01167.hp1
HG01346.hp2
HG02071.hp1
HG02922.hp2
HG03017.hp1
HG03491.hp2
HG03516.hp1
HG04199.hp1
HG04204.hp1
NA18522.hp1
NA18948.hp1
NA18957.hp1
NA18982.hp1
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA19012.hp1
NA19060.hp2
NA19070.hp2
NA19074.hp1
 intron_variant MODIFIER c.608-1214T>C
c.608-1214T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13089869
chr20:13090069 C
C
 T
T
 74 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(71): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 74 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(71): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.608-1014C>T
c.608-1014C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13090069
chr20:13090457 A
A
 G
G
 1 a0001c0001t0053g0250
a0001c0001t0053g0250
 1 HG01358.hp1
HG01358.hp1
 intron_variant MODIFIER c.608-626A>G
c.608-626A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13090457
chr20:13090461 T
T
 C
C
 1 a0001c0001t0044g0073
a0001c0001t0044g0073
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.608-622T>C
c.608-622T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13090461
chr20:13090583 G
G
 A
A
 60 a0001c0001t0001g0159
a0001c0001t0004g0225
a0001c0001t0004g0226
others(57): Show 
a0001c0001t0001g0159
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0014g0074
a0001c0001t0015g0265
a0001c0001t0021g0064
a0001c0001t0044g0073
a0001c0001t0046g0071
a0001c0001t0061g0274
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0199
a0002c0002t0003g0198
a0005c0010t0037g0167
a0005c0011t0023g0166
a0007c0017t0013g0049
 60 HG00140.hp1
HG00280.hp2
HG00639.hp1
others(57): Show 
HG00140.hp1
HG00280.hp2
HG00639.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01167.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp2
HG01433.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp1
HG01891.hp1
HG01978.hp2
HG02071.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02451.hp1
HG02615.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG03017.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG04199.hp1
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18948.hp1
NA18957.hp1
NA18982.hp1
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA19012.hp1
NA19060.hp2
NA19070.hp2
NA19074.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.608-500G>A
c.608-500G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13090583
chr20:13090674 T
T
 C
C
 1 a0001c0001t0059g0290
a0001c0001t0059g0290
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.608-409T>C
c.608-409T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13090674
chr20:13090785 T
T
 C
C
 1 a0001c0001t0001g0098
a0001c0001t0001g0098
 1 HG02080.hp1
HG02080.hp1
 intron_variant MODIFIER c.608-298T>C
c.608-298T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13090785
chr20:13090864 C
C
 G
G
 84 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0096
others(81): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0247
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0258
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0004c0008t0005g0140
a0004c0008t0006g0033
 84 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(81): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01891.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp2
 intron_variant MODIFIER c.608-219C>G
c.608-219C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 chr20 13090864
chr20:13090896 AT
AT
 A
A
 154 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(151): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0060
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0002c0002t0002g0007
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0006c0016t0064g0248
a0008c0015t0002g0050
 154 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(151): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01516.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp2
HG02922.hp1
HG02965.hp2
HG03017.hp2
HG03041.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04199.hp2
HG04228.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18949.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18982.hp2
NA18990.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19063.hp1
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp2
 intron_variant MODIFIER c.608-185delT
c.608-185delT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 4/11 INFO_REALIGN_3_PRIME chr20 13090896
chr20:13091223 C
C
 A
A
 63 a0001c0001t0001g0159
a0001c0001t0004g0225
a0001c0001t0004g0226
others(60): Show 
a0001c0001t0001g0159
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0014g0074
a0001c0001t0015g0265
a0001c0001t0021g0064
a0001c0001t0044g0073
a0001c0001t0046g0071
a0001c0001t0061g0274
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0199
a0002c0002t0003g0198
a0005c0010t0037g0167
a0005c0011t0023g0166
a0007c0017t0013g0049
 63 HG00140.hp1
HG00280.hp2
HG00639.hp1
others(60): Show 
HG00140.hp1
HG00280.hp2
HG00639.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01167.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp2
HG01433.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02451.hp1
HG02615.hp2
HG02723.hp2
HG02738.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG03017.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG04199.hp1
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18948.hp1
NA18957.hp1
NA18982.hp1
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA19012.hp1
NA19060.hp2
NA19070.hp2
NA19074.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.732+16C>A
c.732+16C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 5/11 chr20 13091223
chr20:13091356 C
C
 T
T
 26 a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
others(23): Show 
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0047g0068
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0007c0017t0013g0049
 26 HG00280.hp2
HG00639.hp1
HG00738.hp1
others(23): Show 
HG00280.hp2
HG00639.hp1
HG00738.hp1
HG01106.hp1
HG01109.hp1
HG01167.hp1
HG01346.hp2
HG02071.hp1
HG02615.hp2
HG02922.hp2
HG03017.hp1
HG03491.hp2
HG03516.hp1
HG04199.hp1
HG04204.hp1
NA18522.hp1
NA18948.hp1
NA18957.hp1
NA18982.hp1
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA19012.hp1
NA19060.hp2
NA19070.hp2
NA19074.hp1
 intron_variant MODIFIER c.732+149C>T
c.732+149C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 5/11 chr20 13091356
chr20:13091522 G
G
 A
A
 36 a0001c0001t0004g0225
a0001c0001t0014g0074
a0001c0001t0044g0073
others(33): Show 
a0001c0001t0004g0225
a0001c0001t0014g0074
a0001c0001t0044g0073
a0001c0001t0046g0071
a0001c0001t0061g0274
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0004g0244
a0001c0005t0016g0147
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0002c0006t0006g0037
a0005c0011t0023g0166
a0007c0017t0013g0049
 36 HG00280.hp2
HG00639.hp1
HG00738.hp1
others(33): Show 
HG00280.hp2
HG00639.hp1
HG00738.hp1
HG00741.hp2
HG01109.hp1
HG01167.hp1
HG01243.hp2
HG01346.hp2
HG01515.hp2
HG02071.hp1
HG02280.hp2
HG02451.hp1
HG02615.hp2
HG02895.hp2
HG02922.hp2
HG03017.hp1
HG03041.hp1
HG03195.hp2
HG03491.hp2
HG03516.hp1
HG04199.hp1
HG04204.hp1
NA18522.hp1
NA18948.hp1
NA18956.hp2
NA18957.hp1
NA18982.hp1
NA18985.hp2
NA18986.hp2
NA18998.hp1
NA19012.hp1
NA19060.hp2
NA19070.hp2
NA19074.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.732+315G>A
c.732+315G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 5/11 chr20 13091522
chr20:13091571 CA
CA
 C
C
 196 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(193): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0188
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0179
a0001c0001t0004g0219
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0230
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0168
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0002g0007
a0002c0002t0003g0198
a0002c0002t0008g0006
a0002c0002t0013g0041
a0002c0006t0006g0023
a0002c0006t0006g0037
a0002c0006t0006g0042
a0002c0018t0002g0054
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 196 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(193): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp2
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18949.hp1
NA18954.hp1
NA18956.hp2
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18988.hp2
NA18990.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19060.hp2
NA19063.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.732+377delA
c.732+377delA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 5/11 INFO_REALIGN_3_PRIME chr20 13091571
chr20:13091590 AAAG
AAAG
 A
A
 80 a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
others(77): Show 
a0001c0001t0001g0093
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0115
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0004g0229
a0001c0001t0004g0291
a0001c0001t0005g0128
a0001c0001t0007g0221
a0001c0001t0007g0230
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0012g0258
a0001c0003t0028g0249
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0170
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0048g0164
a0001c0014t0005g0083
a0002c0002t0013g0041
a0002c0006t0006g0042
 80 HG00140.hp1
HG00140.hp2
HG00323.hp1
others(77): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01516.hp2
HG01975.hp1
HG01978.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02280.hp1
HG02486.hp1
HG02602.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG03139.hp1
HG03139.hp2
HG03239.hp2
HG03491.hp1
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04199.hp2
NA18943.hp1
NA18944.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp2
NA18967.hp2
NA18970.hp1
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19011.hp1
NA19043.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19077.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.732+390_732+392del
others(3): Show 
c.732+390_732+392delAAG
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 5/11 INFO_REALIGN_3_PRIME chr20 13091590
chr20:13091795 T
T
 C
C
 2 a0001c0001t0003g0072
a0001c0001t0004g0266
a0001c0001t0003g0072
a0001c0001t0004g0266
 2 HG00741.hp1
HG02738.hp1
HG00741.hp1
HG02738.hp1
 intron_variant MODIFIER c.732+588T>C
c.732+588T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 5/11 chr20 13091795
chr20:13091895 A
A
 C
C
 29 a0001c0001t0001g0117
a0001c0001t0001g0159
a0001c0001t0003g0113
others(26): Show 
a0001c0001t0001g0117
a0001c0001t0001g0159
a0001c0001t0003g0113
a0001c0001t0003g0179
a0001c0001t0004g0226
a0001c0001t0007g0216
a0001c0001t0009g0111
a0001c0001t0010g0220
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0057g0281
a0001c0003t0005g0109
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0282
a0001c0003t0012g0262
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0005t0001g0080
a0001c0005t0005g0069
a0002c0002t0001g0199
a0002c0002t0008g0006
a0002c0006t0006g0023
a0003c0007t0006g0002
a0003c0007t0006g0066
a0004c0008t0028g0276
a0006c0016t0064g0248
 29 HG00280.hp1
HG01069.hp1
HG01071.hp1
others(26): Show 
HG00280.hp1
HG01069.hp1
HG01071.hp1
HG01109.hp2
HG01255.hp2
HG01891.hp1
HG01952.hp2
HG02015.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02293.hp2
HG02602.hp2
HG03239.hp1
HG03486.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18747.hp2
NA18945.hp2
NA18971.hp2
NA18988.hp2
NA19074.hp2
 intron_variant MODIFIER c.732+688A>C
c.732+688A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 5/11 chr20 13091895
chr20:13092074 C
C
 G
G
 10 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
others(7): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0222
a0001c0001t0004g0226
a0001c0001t0021g0064
a0001c0001t0027g0263
a0001c0012t0023g0165
 10 HG02257.hp1
HG02258.hp1
HG02630.hp1
others(7): Show 
HG02257.hp1
HG02258.hp1
HG02630.hp1
HG02630.hp2
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03130.hp2
HG03516.hp2
 intron_variant MODIFIER c.732+867C>G
c.732+867C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 5/11 chr20 13092074
chr20:13092116 G
G
 C
C
 71 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(68): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0118
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0003g0123
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0179
a0001c0001t0004g0225
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0266
a0001c0001t0005g0128
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0019g0119
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0044g0073
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0061g0274
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0183
a0001c0003t0028g0249
a0001c0003t0041g0107
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0014g0137
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0003g0196
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0021g0065
a0002c0006t0005g0171
a0002c0006t0006g0028
a0002c0006t0006g0037
a0002c0006t0006g0039
a0003c0007t0006g0002
 71 HG00280.hp2
HG00323.hp1
HG00408.hp1
others(68): Show 
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01975.hp1
HG02015.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02132.hp2
HG02155.hp2
HG02602.hp1
HG02738.hp1
HG03239.hp1
HG03239.hp2
HG03654.hp1
NA18747.hp2
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18956.hp2
NA18957.hp1
NA18959.hp2
NA18960.hp2
NA18964.hp2
NA18965.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18973.hp1
NA18977.hp2
NA18982.hp2
NA18985.hp1
NA18986.hp1
NA18998.hp2
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19004.hp2
NA19010.hp1
NA19011.hp1
NA19057.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.732+909G>C
c.732+909G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 5/11 chr20 13092116
chr20:13092120 A
A
 G
G
 60 a0001c0001t0001g0124
a0001c0001t0001g0159
a0001c0001t0001g0173
others(57): Show 
a0001c0001t0001g0124
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0187
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0057
a0001c0001t0003g0070
a0001c0001t0004g0229
a0001c0001t0004g0273
a0001c0001t0005g0092
a0001c0001t0010g0215
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0027g0268
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0012g0217
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0016g0091
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0065g0284
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0018g0084
a0001c0005t0020g0078
a0001c0005t0030g0285
a0001c0009t0005g0186
a0002c0002t0001g0212
a0002c0002t0004g0254
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0007c0017t0013g0049
a0008c0015t0002g0050
 60 HG00140.hp1
HG00323.hp2
HG00438.hp1
others(57): Show 
HG00140.hp1
HG00323.hp2
HG00438.hp1
HG00609.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01243.hp1
HG01346.hp1
HG01346.hp2
HG01978.hp1
HG02055.hp2
HG02056.hp1
HG02132.hp1
HG02257.hp2
HG02280.hp1
HG02486.hp2
HG02559.hp1
HG02622.hp1
HG02647.hp1
HG02895.hp1
HG02897.hp2
HG02922.hp2
HG03017.hp1
HG03041.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp2
HG03516.hp1
HG03540.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp2
NA18946.hp1
NA18948.hp2
NA18949.hp1
NA18954.hp1
NA18959.hp1
NA18961.hp2
NA18982.hp1
NA18986.hp2
NA18998.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp2
NA19070.hp2
NA19077.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.732+913A>G
c.732+913A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 5/11 chr20 13092120
chr20:13092217 G
G
 T
T
 3 a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0040g0206
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0040g0206
 3 HG01346.hp2
HG03017.hp1
HG04199.hp1
HG01346.hp2
HG03017.hp1
HG04199.hp1
 intron_variant MODIFIER c.732+1010G>T
c.732+1010G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 5/11 chr20 13092217
chr20:13092414 T
T
 C
C
 4 a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0010g0289
others(1): Show 
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0010g0289
a0002c0002t0031g0001
 4 HG02056.hp1
NA18948.hp2
NA18959.hp1
others(1): Show 
HG02056.hp1
NA18948.hp2
NA18959.hp1
NA19012.hp2
 intron_variant MODIFIER c.733-1070T>C
c.733-1070T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 5/11 chr20 13092414
chr20:13092642 A
A
 C
C
 112 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0098
others(109): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0118
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0159
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0179
a0001c0001t0004g0219
a0001c0001t0004g0225
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0005g0128
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0183
a0001c0003t0011g0082
a0001c0003t0041g0107
a0001c0004t0001g0169
a0001c0004t0003g0094
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0004t0042g0184
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0244
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0048g0164
a0001c0014t0005g0083
a0002c0002t0001g0190
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0036g0061
a0002c0002t0062g0280
a0002c0006t0006g0042
a0003c0007t0006g0010
a0005c0011t0023g0166
 112 HG00140.hp2
HG00280.hp2
HG00323.hp1
others(109): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp2
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02293.hp1
HG02451.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG03017.hp2
HG03041.hp1
HG03139.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp1
HG03516.hp1
HG03654.hp1
HG03669.hp2
HG04115.hp2
HG06807.hp2
NA18522.hp2
NA18747.hp2
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18965.hp1
NA18968.hp1
NA18970.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18990.hp2
NA18998.hp2
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp2
NA19063.hp2
NA19074.hp2
NA19086.hp2
NA19089.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.733-842A>C
c.733-842A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 5/11 chr20 13092642
chr20:13092701 T
T
 A
A
 2 a0001c0005t0047g0068
a0005c0010t0037g0167
a0001c0005t0047g0068
a0005c0010t0037g0167
 2 HG01884.hp1
HG02615.hp2
HG01884.hp1
HG02615.hp2
 intron_variant MODIFIER c.733-783T>A
c.733-783T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 5/11 chr20 13092701
chr20:13093032 A
A
 C
C
 8 a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
others(5): Show 
a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0004g0219
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0019g0160
 8 HG01167.hp2
HG02622.hp2
HG02647.hp2
others(5): Show 
HG01167.hp2
HG02622.hp2
HG02647.hp2
HG02809.hp2
HG03225.hp2
HG06807.hp2
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.733-452A>C
c.733-452A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 5/11 chr20 13093032
chr20:13093121 C
C
 T
T
 9 a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0187
others(6): Show 
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0187
a0001c0001t0009g0111
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0054g0286
a0002c0002t0001g0199
a0002c0002t0031g0001
 9 HG00280.hp1
HG01168.hp1
HG01192.hp1
others(6): Show 
HG00280.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp2
HG01346.hp1
HG02132.hp1
HG02258.hp2
NA18945.hp2
NA18948.hp2
 intron_variant MODIFIER c.733-363C>T
c.733-363C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 5/11 chr20 13093121
chr20:13093172 T
T
 C
C
 1 a0001c0001t0045g0163
a0001c0001t0045g0163
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.733-312T>C
c.733-312T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 5/11 chr20 13093172
chr20:13093316 T
T
 C
C
 80 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0098
others(77): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0118
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0179
a0001c0001t0004g0225
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0055g0287
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0041g0107
a0001c0004t0001g0169
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0244
a0001c0005t0009g0079
a0001c0005t0025g0088
a0001c0005t0025g0097
a0002c0002t0001g0190
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0036g0061
a0003c0007t0006g0010
 80 HG00140.hp2
HG00280.hp2
HG00323.hp1
others(77): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp2
HG00639.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp2
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02056.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02155.hp2
HG02293.hp1
HG02602.hp1
HG02738.hp1
HG02738.hp2
HG03017.hp2
HG03041.hp1
HG03239.hp2
HG03471.hp1
HG03491.hp1
HG03654.hp1
HG03669.hp2
HG04115.hp2
NA18747.hp2
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18954.hp1
NA18959.hp2
NA18965.hp1
NA18968.hp1
NA18970.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18998.hp2
NA19000.hp1
NA19001.hp1
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp2
NA19063.hp2
NA19086.hp2
NA19089.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.733-168T>C
c.733-168T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 5/11 chr20 13093316
chr20:13093478 G
G
 A
A
 6 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0292
others(3): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0292
a0001c0001t0004g0226
a0001c0001t0004g0291
a0001c0001t0019g0053
 6 HG02257.hp1
HG02922.hp1
HG02965.hp1
others(3): Show 
HG02257.hp1
HG02922.hp1
HG02965.hp1
HG03139.hp2
HG03209.hp1
HG03516.hp2
 splice_region_variant&intron_variant LOW c.733-6G>A
c.733-6G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 5/11 chr20 13093478
chr20:13093588 G
G
 A
A
 287 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(284): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 287 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(284): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.826+11G>A
c.826+11G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13093588
chr20:13093590 G
G
 T
T
 5 a0001c0001t0004g0229
a0001c0001t0030g0261
a0001c0004t0065g0284
others(2): Show 
a0001c0001t0004g0229
a0001c0001t0030g0261
a0001c0004t0065g0284
a0001c0005t0030g0285
a0002c0002t0001g0212
 5 HG02109.hp1
HG02922.hp2
HG03130.hp1
others(2): Show 
HG02109.hp1
HG02922.hp2
HG03130.hp1
HG03195.hp2
NA20300.hp1
 intron_variant MODIFIER c.826+13G>T
c.826+13G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13093590
chr20:13093596 T
T
 A
A
 109 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(106): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0118
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0159
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0179
a0001c0001t0004g0219
a0001c0001t0004g0225
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0005g0128
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0011g0082
a0001c0003t0041g0107
a0001c0004t0001g0169
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0004t0042g0184
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0244
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0010g0231
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0048g0164
a0001c0012t0023g0165
a0002c0002t0001g0190
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0036g0061
a0002c0002t0062g0280
a0003c0007t0006g0010
a0005c0011t0023g0166
 109 HG00140.hp2
HG00280.hp2
HG00323.hp1
others(106): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp2
HG00639.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp2
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02293.hp1
HG02451.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02895.hp2
HG03017.hp2
HG03041.hp1
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp1
HG03654.hp1
HG03669.hp2
HG04115.hp2
HG06807.hp2
NA18522.hp2
NA18747.hp2
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18965.hp1
NA18968.hp1
NA18970.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18990.hp2
NA18998.hp2
NA19000.hp1
NA19001.hp1
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp2
NA19063.hp2
NA19074.hp2
NA19086.hp2
NA19089.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.826+19T>A
c.826+19T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13093596
chr20:13093648 C
C
 T
T
 5 a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
others(2): Show 
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0002c0002t0008g0006
a0002c0002t0008g0047
 5 HG03654.hp2
HG03669.hp1
HG04115.hp1
others(2): Show 
HG03654.hp2
HG03669.hp1
HG04115.hp1
HG04199.hp2
HG04228.hp1
 intron_variant MODIFIER c.826+71C>T
c.826+71C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13093648
chr20:13093683 A
A
 C
C
 15 a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0149
others(12): Show 
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0187
a0001c0001t0001g0292
a0001c0001t0004g0226
a0001c0001t0004g0291
a0001c0001t0009g0111
a0001c0001t0019g0053
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0054g0286
a0002c0002t0001g0199
a0002c0002t0031g0001
 15 HG00280.hp1
HG01168.hp1
HG01192.hp1
others(12): Show 
HG00280.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp2
HG01346.hp1
HG02132.hp1
HG02257.hp1
HG02258.hp2
HG02922.hp1
HG02965.hp1
HG03139.hp2
HG03209.hp1
HG03516.hp2
NA18945.hp2
NA18948.hp2
 intron_variant MODIFIER c.826+106A>C
c.826+106A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13093683
chr20:13093957 T
T
 C
C
 24 a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
others(21): Show 
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0222
a0001c0001t0004g0288
a0001c0001t0007g0216
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0060g0267
a0001c0005t0001g0080
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0009g0151
a0001c0009t0011g0161
a0002c0002t0008g0006
a0002c0002t0008g0047
 24 HG01891.hp1
HG02615.hp1
HG02630.hp1
others(21): Show 
HG01891.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02723.hp2
HG02809.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG03041.hp2
HG03130.hp2
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03654.hp2
HG03669.hp1
HG04115.hp1
HG04199.hp2
HG04228.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.826+380T>C
c.826+380T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13093957
chr20:13094007 G
G
 T
T
 1 a0002c0002t0007g0260
a0002c0002t0007g0260
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.826+430G>T
c.826+430G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13094007
chr20:13094034 C
C
 T
T
 1 a0001c0001t0021g0064
a0001c0001t0021g0064
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.826+457C>T
c.826+457C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13094034
chr20:13094183 G
G
 A
A
 15 a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0149
others(12): Show 
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0187
a0001c0001t0001g0292
a0001c0001t0004g0226
a0001c0001t0004g0291
a0001c0001t0009g0111
a0001c0001t0019g0053
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0054g0286
a0002c0002t0001g0199
a0002c0002t0031g0001
 15 HG00280.hp1
HG01168.hp1
HG01192.hp1
others(12): Show 
HG00280.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp2
HG01346.hp1
HG02132.hp1
HG02257.hp1
HG02258.hp2
HG02922.hp1
HG02965.hp1
HG03139.hp2
HG03209.hp1
HG03516.hp2
NA18945.hp2
NA18948.hp2
 intron_variant MODIFIER c.826+606G>A
c.826+606G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13094183
chr20:13094393 GCA
GCA
 G
G
 73 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0098
others(70): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0118
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0182
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0003g0112
a0001c0001t0003g0179
a0001c0001t0004g0225
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0055g0287
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0003t0041g0107
a0001c0004t0001g0169
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0244
a0001c0005t0009g0079
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0012t0023g0165
a0002c0002t0001g0190
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0003g0196
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0036g0061
a0003c0007t0006g0010
 73 HG00140.hp2
HG00280.hp2
HG00323.hp1
others(70): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp2
HG00639.hp2
HG00673.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp2
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02056.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02155.hp2
HG02602.hp1
HG02738.hp1
HG02738.hp2
HG02895.hp2
HG03017.hp2
HG03041.hp1
HG03239.hp2
HG03471.hp1
HG03491.hp1
HG03654.hp1
HG03669.hp2
HG04115.hp2
NA18747.hp2
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18954.hp1
NA18959.hp2
NA18965.hp1
NA18968.hp1
NA18970.hp1
NA18973.hp1
NA18977.hp2
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18998.hp2
NA19000.hp1
NA19001.hp1
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19057.hp1
NA19057.hp2
NA19062.hp2
NA19086.hp2
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.826+823_826+824del
others(2): Show 
c.826+823_826+824delCA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 INFO_REALIGN_3_PRIME chr20 13094393
chr20:13094442 T
T
 C
C
 15 a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0149
others(12): Show 
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0187
a0001c0001t0001g0292
a0001c0001t0004g0226
a0001c0001t0004g0291
a0001c0001t0009g0111
a0001c0001t0019g0053
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0054g0286
a0002c0002t0001g0199
a0002c0002t0031g0001
 15 HG00280.hp1
HG01168.hp1
HG01192.hp1
others(12): Show 
HG00280.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp2
HG01346.hp1
HG02132.hp1
HG02257.hp1
HG02258.hp2
HG02922.hp1
HG02965.hp1
HG03139.hp2
HG03209.hp1
HG03516.hp2
NA18945.hp2
NA18948.hp2
 intron_variant MODIFIER c.826+865T>C
c.826+865T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13094442
chr20:13094443 G
G
 A
A
 15 a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0149
others(12): Show 
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0187
a0001c0001t0001g0292
a0001c0001t0004g0226
a0001c0001t0004g0291
a0001c0001t0009g0111
a0001c0001t0019g0053
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0054g0286
a0002c0002t0001g0199
a0002c0002t0031g0001
 15 HG00280.hp1
HG01168.hp1
HG01192.hp1
others(12): Show 
HG00280.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp2
HG01346.hp1
HG02132.hp1
HG02257.hp1
HG02258.hp2
HG02922.hp1
HG02965.hp1
HG03139.hp2
HG03209.hp1
HG03516.hp2
NA18945.hp2
NA18948.hp2
 intron_variant MODIFIER c.826+866G>A
c.826+866G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13094443
chr20:13094448 C
C
 A
A
 18 a0001c0001t0001g0145
a0001c0001t0005g0128
a0001c0001t0010g0215
others(15): Show 
a0001c0001t0001g0145
a0001c0001t0005g0128
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0265
a0001c0001t0045g0163
a0001c0001t0056g0253
a0001c0003t0005g0109
a0001c0003t0011g0082
a0001c0004t0042g0184
a0001c0005t0005g0081
a0001c0005t0048g0164
a0002c0002t0062g0280
a0005c0011t0023g0166
 18 HG01243.hp1
HG01255.hp1
HG02055.hp2
others(15): Show 
HG01243.hp1
HG01255.hp1
HG02055.hp2
HG02071.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02647.hp1
HG03139.hp1
NA18522.hp2
NA18956.hp1
NA18990.hp2
NA19043.hp1
NA19074.hp2
 intron_variant MODIFIER c.826+871C>A
c.826+871C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13094448
chr20:13094577 C
C
 T
T
 3 a0001c0001t0002g0015
a0001c0001t0002g0057
a0008c0015t0002g0050
a0001c0001t0002g0015
a0001c0001t0002g0057
a0008c0015t0002g0050
 3 NA18946.hp1
NA18949.hp1
NA19091.hp2
NA18946.hp1
NA18949.hp1
NA19091.hp2
 intron_variant MODIFIER c.826+1000C>T
c.826+1000C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13094577
chr20:13094755 G
G
 C
C
 1 a0002c0002t0008g0006
a0002c0002t0008g0006
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.826+1178G>C
c.826+1178G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13094755
chr20:13095071 C
C
 T
T
 1 a0005c0010t0037g0167
a0005c0010t0037g0167
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.826+1494C>T
c.826+1494C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13095071
chr20:13095266 C
C
 T
T
 2 a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0227
a0001c0005t0004g0235
 2 HG02896.hp1
HG02897.hp1
HG02896.hp1
HG02897.hp1
 intron_variant MODIFIER c.826+1689C>T
c.826+1689C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13095266
chr20:13095418 G
G
 A
A
 1 a0002c0002t0008g0006
a0002c0002t0008g0006
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.826+1841G>A
c.826+1841G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13095418
chr20:13095485 G
G
 C
C
 1 a0001c0005t0048g0164
a0001c0005t0048g0164
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.826+1908G>C
c.826+1908G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13095485
chr20:13095488 A
A
 G
G
 1 a0002c0002t0002g0008
a0002c0002t0002g0008
 1 HG02080.hp2
HG02080.hp2
 intron_variant MODIFIER c.826+1911A>G
c.826+1911A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13095488
chr20:13095513 T
T
 C
C
 1 a0001c0003t0011g0082
a0001c0003t0011g0082
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.826+1936T>C
c.826+1936T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13095513
chr20:13095785 C
C
 A
A
 1 a0007c0017t0013g0049
a0007c0017t0013g0049
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.826+2208C>A
c.826+2208C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13095785
chr20:13095827 T
T
 C
C
 1 a0001c0001t0001g0052
a0001c0001t0001g0052
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.826+2250T>C
c.826+2250T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13095827
chr20:13096073 G
G
 A
A
 1 a0001c0003t0010g0236
a0001c0003t0010g0236
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.826+2496G>A
c.826+2496G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13096073
chr20:13096333 C
C
 T
T
 1 a0001c0001t0004g0219
a0001c0001t0004g0219
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.826+2756C>T
c.826+2756C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13096333
chr20:13096334 G
G
 A
A
 175 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(172): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0007g0216
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0185
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0012t0023g0165
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0003c0007t0006g0010
a0008c0015t0002g0050
 175 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(172): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01891.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02132.hp1
HG02135.hp1
HG02155.hp2
HG02257.hp1
HG02258.hp2
HG02293.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18964.hp2
NA18965.hp1
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18998.hp2
NA19000.hp1
NA19001.hp1
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19077.hp2
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.826+2757G>A
c.826+2757G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13096334
chr20:13096392 G
G
 C
C
 15 a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0149
others(12): Show 
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0187
a0001c0001t0001g0292
a0001c0001t0004g0226
a0001c0001t0004g0291
a0001c0001t0009g0111
a0001c0001t0019g0053
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0054g0286
a0002c0002t0001g0199
a0002c0002t0031g0001
 15 HG00280.hp1
HG01168.hp1
HG01192.hp1
others(12): Show 
HG00280.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp2
HG01346.hp1
HG02132.hp1
HG02257.hp1
HG02258.hp2
HG02922.hp1
HG02965.hp1
HG03139.hp2
HG03209.hp1
HG03516.hp2
NA18945.hp2
NA18948.hp2
 intron_variant MODIFIER c.826+2815G>C
c.826+2815G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13096392
chr20:13096444 T
T
 TA
TA
 78 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0098
others(75): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0118
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0179
a0001c0001t0004g0225
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0055g0287
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0012g0258
a0001c0003t0041g0107
a0001c0003t0058g0257
a0001c0004t0001g0169
a0001c0004t0003g0094
a0001c0004t0014g0137
a0001c0005t0004g0244
a0001c0005t0010g0231
a0001c0012t0023g0165
a0002c0002t0001g0190
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0021g0065
a0002c0002t0036g0061
 78 HG00280.hp2
HG00323.hp1
HG00408.hp1
others(75): Show 
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp2
HG00639.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01106.hp2
HG01123.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01515.hp2
HG01975.hp1
HG02015.hp2
HG02056.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02155.hp2
HG02258.hp1
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02622.hp1
HG02738.hp1
HG02895.hp2
HG03017.hp2
HG03041.hp1
HG03195.hp1
HG03239.hp2
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG04115.hp2
NA18747.hp2
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18954.hp1
NA18959.hp2
NA18965.hp1
NA18968.hp1
NA18970.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18998.hp2
NA19000.hp1
NA19001.hp1
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp2
NA19063.hp2
NA19086.hp2
NA19089.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.826+2878dupA
c.826+2878dupA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 INFO_REALIGN_3_PRIME chr20 13096444
chr20:13096445 A
A
 T
T
 1 a0004c0008t0006g0033
a0004c0008t0006g0033
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.826+2868A>T
c.826+2868A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13096445
chr20:13096506 T
T
 C
C
 3 a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
 3 HG02622.hp2
HG02647.hp2
NA20129.hp1
HG02622.hp2
HG02647.hp2
NA20129.hp1
 intron_variant MODIFIER c.826+2929T>C
c.826+2929T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13096506
chr20:13096517 T
T
 A
A
 1 a0001c0001t0008g0035
a0001c0001t0008g0035
 1 NA18970.hp1
NA18970.hp1
 intron_variant MODIFIER c.826+2940T>A
c.826+2940T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13096517
chr20:13096548 A
A
 G
G
 5 a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
others(2): Show 
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0002c0002t0008g0006
a0002c0002t0008g0047
 5 HG03654.hp2
HG03669.hp1
HG04115.hp1
others(2): Show 
HG03654.hp2
HG03669.hp1
HG04115.hp1
HG04199.hp2
HG04228.hp1
 intron_variant MODIFIER c.826+2971A>G
c.826+2971A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13096548
chr20:13096585 T
T
 C
C
 83 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(80): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0118
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0179
a0001c0001t0004g0225
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0264
a0001c0001t0016g0136
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0055g0287
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0041g0107
a0001c0004t0001g0169
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0244
a0001c0005t0009g0079
a0001c0005t0010g0231
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0012t0023g0165
a0002c0002t0001g0190
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0036g0061
a0003c0007t0006g0010
 83 HG00140.hp2
HG00280.hp2
HG00323.hp1
others(80): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp2
HG00639.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp2
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02056.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02155.hp2
HG02293.hp1
HG02602.hp1
HG02622.hp1
HG02738.hp1
HG02738.hp2
HG02895.hp2
HG03017.hp2
HG03041.hp1
HG03225.hp1
HG03239.hp2
HG03471.hp1
HG03491.hp1
HG03654.hp1
HG03669.hp2
HG04115.hp2
NA18747.hp2
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18954.hp1
NA18959.hp2
NA18965.hp1
NA18968.hp1
NA18970.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18998.hp2
NA19000.hp1
NA19001.hp1
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp2
NA19063.hp2
NA19086.hp2
NA19089.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.826+3008T>C
c.826+3008T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13096585
chr20:13096668 A
A
 G
G
 4 a0001c0001t0001g0145
a0001c0001t0056g0253
a0001c0003t0005g0109
others(1): Show 
a0001c0001t0001g0145
a0001c0001t0056g0253
a0001c0003t0005g0109
a0002c0002t0062g0280
 4 HG02132.hp2
NA18956.hp1
NA18990.hp2
others(1): Show 
HG02132.hp2
NA18956.hp1
NA18990.hp2
NA19074.hp2
 intron_variant MODIFIER c.826+3091A>G
c.826+3091A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13096668
chr20:13096807 T
T
 C
C
 1 a0002c0006t0005g0171
a0002c0006t0005g0171
 1 NA18985.hp1
NA18985.hp1
 intron_variant MODIFIER c.826+3230T>C
c.826+3230T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13096807
chr20:13096919 C
C
 T
T
 20 a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
others(17): Show 
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0222
a0001c0001t0004g0288
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0060g0267
a0001c0005t0001g0080
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0009g0151
a0002c0002t0008g0006
a0002c0002t0008g0047
 20 HG01891.hp1
HG02615.hp1
HG02630.hp1
others(17): Show 
HG01891.hp1
HG02615.hp1
HG02630.hp1
HG02723.hp2
HG02809.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG03130.hp2
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03654.hp2
HG03669.hp1
HG04115.hp1
HG04199.hp2
HG04228.hp1
NA19240.hp2
 intron_variant MODIFIER c.826+3342C>T
c.826+3342C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13096919
chr20:13097014 G
G
 A
A
 1 a0001c0001t0063g0232
a0001c0001t0063g0232
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.826+3437G>A
c.826+3437G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13097014
chr20:13097087 G
G
 A
A
 5 a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
others(2): Show 
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0012g0258
a0001c0003t0058g0257
 5 HG01106.hp2
HG02280.hp1
HG03195.hp1
others(2): Show 
HG01106.hp2
HG02280.hp1
HG03195.hp1
HG03540.hp2
NA19030.hp2
 intron_variant MODIFIER c.826+3510G>A
c.826+3510G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13097087
chr20:13097628 T
T
 C
C
 16 a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0149
others(13): Show 
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0187
a0001c0001t0001g0292
a0001c0001t0004g0226
a0001c0001t0004g0291
a0001c0001t0009g0111
a0001c0001t0019g0053
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0054g0286
a0001c0001t0055g0287
a0002c0002t0001g0199
a0002c0002t0031g0001
 16 HG00280.hp1
HG01168.hp1
HG01192.hp1
others(13): Show 
HG00280.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp2
HG01346.hp1
HG02132.hp1
HG02257.hp1
HG02258.hp2
HG02922.hp1
HG02965.hp1
HG03139.hp2
HG03209.hp1
HG03516.hp2
HG04115.hp2
NA18945.hp2
NA18948.hp2
 intron_variant MODIFIER c.826+4051T>C
c.826+4051T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13097628
chr20:13097689 T
T
 G
G
 1 a0002c0002t0001g0102
a0002c0002t0001g0102
 1 HG02015.hp1
HG02015.hp1
 intron_variant MODIFIER c.826+4112T>G
c.826+4112T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13097689
chr20:13097782 T
T
 C
C
 83 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(80): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0118
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0179
a0001c0001t0004g0225
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0055g0287
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0041g0107
a0001c0004t0001g0169
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0244
a0001c0005t0009g0079
a0001c0005t0010g0231
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0012t0023g0165
a0002c0002t0001g0190
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0036g0061
a0003c0007t0006g0010
 83 HG00140.hp2
HG00280.hp2
HG00323.hp1
others(80): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp2
HG00639.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp2
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02056.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02155.hp2
HG02258.hp1
HG02293.hp1
HG02602.hp1
HG02622.hp1
HG02738.hp1
HG02738.hp2
HG02895.hp2
HG03017.hp2
HG03041.hp1
HG03225.hp1
HG03239.hp2
HG03491.hp1
HG03654.hp1
HG03669.hp2
HG04115.hp2
NA18747.hp2
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18954.hp1
NA18959.hp2
NA18965.hp1
NA18968.hp1
NA18970.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18998.hp2
NA19000.hp1
NA19001.hp1
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp2
NA19063.hp2
NA19086.hp2
NA19089.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.826+4205T>C
c.826+4205T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13097782
chr20:13097785 C
C
 T
T
 1 a0001c0001t0010g0220
a0001c0001t0010g0220
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.826+4208C>T
c.826+4208C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13097785
chr20:13097835 A
A
 G
G
 2 a0002c0002t0008g0006
a0002c0002t0008g0047
a0002c0002t0008g0006
a0002c0002t0008g0047
 2 HG04115.hp1
HG04228.hp1
HG04115.hp1
HG04228.hp1
 intron_variant MODIFIER c.826+4258A>G
c.826+4258A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13097835
chr20:13097864 G
G
 C
C
 1 a0001c0005t0004g0244
a0001c0005t0004g0244
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.826+4287G>C
c.826+4287G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13097864
chr20:13098034 T
T
 A
A
 1 a0001c0001t0004g0229
a0001c0001t0004g0229
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.826+4457T>A
c.826+4457T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13098034
chr20:13098069 T
T
 G
G
 1 a0001c0001t0001g0052
a0001c0001t0001g0052
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.826+4492T>G
c.826+4492T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13098069
chr20:13098074 C
C
 T
T
 1 a0001c0001t0059g0290
a0001c0001t0059g0290
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.826+4497C>T
c.826+4497C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13098074
chr20:13098100 G
G
 A
A
 91 a0001c0001t0001g0143
a0001c0001t0001g0156
a0001c0001t0001g0158
others(88): Show 
a0001c0001t0001g0143
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0222
a0001c0001t0004g0229
a0001c0001t0004g0288
a0001c0001t0005g0092
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0046g0071
a0001c0001t0059g0290
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0065g0284
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0014t0005g0083
a0002c0002t0001g0212
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0006c0016t0064g0248
a0007c0017t0013g0049
 91 HG00642.hp2
HG00673.hp1
HG01069.hp1
others(88): Show 
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02055.hp1
HG02056.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02155.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02486.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp2
HG03831.hp2
HG04199.hp1
HG04204.hp1
NA18747.hp1
NA18943.hp1
NA18948.hp1
NA18949.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19060.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19077.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.826+4523G>A
c.826+4523G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13098100
chr20:13098114 A
A
 G
G
 1 a0001c0001t0021g0064
a0001c0001t0021g0064
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.826+4537A>G
c.826+4537A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13098114
chr20:13098209 A
A
 C
C
 3 a0001c0001t0003g0076
a0001c0001t0007g0252
a0002c0002t0002g0038
a0001c0001t0003g0076
a0001c0001t0007g0252
a0002c0002t0002g0038
 3 HG00621.hp1
HG02135.hp1
NA19066.hp1
HG00621.hp1
HG02135.hp1
NA19066.hp1
 intron_variant MODIFIER c.826+4632A>C
c.826+4632A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13098209
chr20:13098243 A
A
 G
G
 1 a0001c0003t0012g0217
a0001c0003t0012g0217
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.826+4666A>G
c.826+4666A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13098243
chr20:13098698 T
T
 C
C
 83 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(80): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0118
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0179
a0001c0001t0004g0225
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0055g0287
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0041g0107
a0001c0004t0001g0169
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0244
a0001c0005t0009g0079
a0001c0005t0010g0231
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0012t0023g0165
a0002c0002t0001g0190
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0036g0061
a0003c0007t0006g0010
 83 HG00140.hp2
HG00280.hp2
HG00323.hp1
others(80): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp2
HG00639.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp2
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02056.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02155.hp2
HG02258.hp1
HG02293.hp1
HG02602.hp1
HG02622.hp1
HG02738.hp1
HG02738.hp2
HG02895.hp2
HG03017.hp2
HG03041.hp1
HG03225.hp1
HG03239.hp2
HG03491.hp1
HG03654.hp1
HG03669.hp2
HG04115.hp2
NA18747.hp2
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18954.hp1
NA18959.hp2
NA18965.hp1
NA18968.hp1
NA18970.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18998.hp2
NA19000.hp1
NA19001.hp1
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp2
NA19063.hp2
NA19086.hp2
NA19089.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.826+5121T>C
c.826+5121T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13098698
chr20:13098735 C
C
 G
G
 1 a0001c0005t0010g0231
a0001c0005t0010g0231
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.826+5158C>G
c.826+5158C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13098735
chr20:13098756 C
C
 T
T
 110 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(107): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0118
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0159
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0179
a0001c0001t0004g0219
a0001c0001t0004g0225
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0005g0128
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0011g0082
a0001c0003t0041g0107
a0001c0004t0001g0169
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0004t0042g0184
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0244
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0010g0231
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0048g0164
a0001c0012t0023g0165
a0002c0002t0001g0190
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0036g0061
a0002c0002t0062g0280
a0003c0007t0006g0010
a0005c0011t0023g0166
 110 HG00140.hp2
HG00280.hp2
HG00323.hp1
others(107): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp2
HG00639.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp2
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02293.hp1
HG02451.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02895.hp2
HG03017.hp2
HG03041.hp1
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp1
HG03654.hp1
HG03669.hp2
HG04115.hp2
HG06807.hp2
NA18522.hp2
NA18747.hp2
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18965.hp1
NA18968.hp1
NA18970.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18990.hp2
NA18998.hp2
NA19000.hp1
NA19001.hp1
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp2
NA19063.hp2
NA19074.hp2
NA19086.hp2
NA19089.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.826+5179C>T
c.826+5179C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13098756
chr20:13098822 G
G
 A
A
 27 a0001c0001t0001g0145
a0001c0001t0001g0159
a0001c0001t0001g0210
others(24): Show 
a0001c0001t0001g0145
a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0004g0219
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0005g0128
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0160
a0001c0001t0045g0163
a0001c0001t0056g0253
a0001c0003t0005g0109
a0001c0003t0011g0082
a0001c0004t0042g0184
a0001c0005t0005g0081
a0001c0005t0048g0164
a0002c0002t0062g0280
a0005c0011t0023g0166
 27 HG01167.hp2
HG01243.hp1
HG01255.hp1
others(24): Show 
HG01167.hp2
HG01243.hp1
HG01255.hp1
HG02055.hp2
HG02071.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02809.hp2
HG03139.hp1
HG03225.hp2
HG03471.hp1
HG06807.hp2
NA18522.hp2
NA18956.hp1
NA18990.hp2
NA19043.hp1
NA19074.hp2
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.826+5245G>A
c.826+5245G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13098822
chr20:13098909 G
G
 A
A
 1 a0002c0002t0031g0001
a0002c0002t0031g0001
 1 NA18948.hp2
NA18948.hp2
 intron_variant MODIFIER c.826+5332G>A
c.826+5332G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13098909
chr20:13098983 C
C
 T
T
 83 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(80): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0118
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0179
a0001c0001t0004g0225
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0055g0287
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0041g0107
a0001c0004t0001g0169
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0244
a0001c0005t0009g0079
a0001c0005t0010g0231
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0012t0023g0165
a0002c0002t0001g0190
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0036g0061
a0003c0007t0006g0010
 83 HG00140.hp2
HG00280.hp2
HG00323.hp1
others(80): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp2
HG00639.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp2
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02056.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02155.hp2
HG02258.hp1
HG02293.hp1
HG02602.hp1
HG02622.hp1
HG02738.hp1
HG02738.hp2
HG02895.hp2
HG03017.hp2
HG03041.hp1
HG03225.hp1
HG03239.hp2
HG03491.hp1
HG03654.hp1
HG03669.hp2
HG04115.hp2
NA18747.hp2
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18954.hp1
NA18959.hp2
NA18965.hp1
NA18968.hp1
NA18970.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18998.hp2
NA19000.hp1
NA19001.hp1
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp2
NA19063.hp2
NA19086.hp2
NA19089.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.826+5406C>T
c.826+5406C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13098983
chr20:13099135 G
G
 A
A
 5 a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
others(2): Show 
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0002c0002t0008g0006
a0002c0002t0008g0047
 5 HG03654.hp2
HG03669.hp1
HG04115.hp1
others(2): Show 
HG03654.hp2
HG03669.hp1
HG04115.hp1
HG04199.hp2
HG04228.hp1
 intron_variant MODIFIER c.826+5558G>A
c.826+5558G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13099135
chr20:13099188 G
G
 A
A
 81 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0098
others(78): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0118
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0179
a0001c0001t0004g0225
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0055g0287
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0041g0107
a0001c0004t0001g0169
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0244
a0001c0005t0009g0079
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0012t0023g0165
a0002c0002t0001g0190
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0036g0061
a0003c0007t0006g0010
 81 HG00140.hp2
HG00280.hp2
HG00323.hp1
others(78): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp2
HG00639.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp2
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02056.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02155.hp2
HG02258.hp1
HG02293.hp1
HG02602.hp1
HG02738.hp1
HG02738.hp2
HG02895.hp2
HG03017.hp2
HG03041.hp1
HG03239.hp2
HG03491.hp1
HG03654.hp1
HG03669.hp2
HG04115.hp2
NA18747.hp2
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18954.hp1
NA18959.hp2
NA18965.hp1
NA18968.hp1
NA18970.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18998.hp2
NA19000.hp1
NA19001.hp1
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp2
NA19063.hp2
NA19086.hp2
NA19089.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.826+5611G>A
c.826+5611G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13099188
chr20:13099311 A
A
 G
G
 118 a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0156
others(115): Show 
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0003g0157
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0288
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0160
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0056g0253
a0001c0001t0059g0290
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0005g0081
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0014t0005g0083
a0002c0002t0001g0212
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
 118 HG00642.hp2
HG00673.hp1
HG01069.hp1
others(115): Show 
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01258.hp2
HG01346.hp2
HG01496.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp2
HG03831.hp2
HG04199.hp1
HG04204.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18943.hp1
NA18948.hp1
NA18949.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19060.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19077.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.826+5734A>G
c.826+5734A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13099311
chr20:13099462 T
T
 C
C
 34 a0001c0001t0001g0145
a0001c0001t0001g0159
a0001c0001t0001g0181
others(31): Show 
a0001c0001t0001g0145
a0001c0001t0001g0159
a0001c0001t0001g0181
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0003g0126
a0001c0001t0004g0219
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0247
a0001c0001t0005g0128
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0160
a0001c0001t0045g0163
a0001c0001t0056g0253
a0001c0003t0005g0109
a0001c0003t0011g0082
a0001c0004t0042g0184
a0001c0005t0005g0081
a0001c0005t0048g0164
a0002c0002t0003g0200
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0062g0280
a0005c0011t0023g0166
 34 HG00735.hp1
HG01167.hp2
HG01243.hp1
others(31): Show 
HG00735.hp1
HG01167.hp2
HG01243.hp1
HG01255.hp1
HG01261.hp2
HG02055.hp2
HG02071.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02293.hp1
HG02451.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02809.hp2
HG03139.hp1
HG03225.hp2
HG03471.hp1
HG06807.hp2
NA18522.hp2
NA18956.hp1
NA18981.hp1
NA18990.hp2
NA19043.hp1
NA19063.hp2
NA19074.hp2
NA19089.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.826+5885T>C
c.826+5885T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13099462
chr20:13099465 A
A
 C
C
 1 a0001c0001t0005g0092
a0001c0001t0005g0092
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.826+5888A>C
c.826+5888A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13099465
chr20:13099508 G
G
 A
A
 85 a0001c0001t0001g0143
a0001c0001t0001g0156
a0001c0001t0001g0158
others(82): Show 
a0001c0001t0001g0143
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0222
a0001c0001t0004g0229
a0001c0001t0004g0288
a0001c0001t0005g0092
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0046g0071
a0001c0001t0059g0290
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0003t0060g0267
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0065g0284
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0014t0005g0083
a0002c0002t0001g0212
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0006c0016t0064g0248
a0007c0017t0013g0049
 85 HG00642.hp2
HG00673.hp1
HG01069.hp1
others(82): Show 
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01243.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02055.hp1
HG02056.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02155.hp1
HG02257.hp2
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02486.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03239.hp1
HG03516.hp1
HG03831.hp2
HG04199.hp1
HG04204.hp1
NA18747.hp1
NA18943.hp1
NA18948.hp1
NA18949.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp2
NA19012.hp2
NA19030.hp1
NA19060.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19077.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.826+5931G>A
c.826+5931G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13099508
chr20:13099540 T
T
 C
C
 14 a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0003t0011g0155
others(11): Show 
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0005t0001g0080
a0001c0009t0011g0161
a0002c0002t0008g0006
a0002c0002t0008g0047
 14 HG01891.hp1
HG02630.hp2
HG03041.hp2
others(11): Show 
HG01891.hp1
HG02630.hp2
HG03041.hp2
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03654.hp2
HG03669.hp1
HG04115.hp1
HG04199.hp2
HG04228.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.826+5963T>C
c.826+5963T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13099540
chr20:13099727 G
G
 T
T
 27 a0001c0001t0001g0145
a0001c0001t0001g0159
a0001c0001t0001g0210
others(24): Show 
a0001c0001t0001g0145
a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0004g0219
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0005g0128
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0160
a0001c0001t0045g0163
a0001c0001t0056g0253
a0001c0003t0005g0109
a0001c0003t0011g0082
a0001c0004t0042g0184
a0001c0005t0005g0081
a0001c0005t0048g0164
a0002c0002t0062g0280
a0005c0011t0023g0166
 27 HG01167.hp2
HG01243.hp1
HG01255.hp1
others(24): Show 
HG01167.hp2
HG01243.hp1
HG01255.hp1
HG02055.hp2
HG02071.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02809.hp2
HG03139.hp1
HG03225.hp2
HG03471.hp1
HG06807.hp2
NA18522.hp2
NA18956.hp1
NA18990.hp2
NA19043.hp1
NA19074.hp2
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.826+6150G>T
c.826+6150G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13099727
chr20:13099801 A
A
 G
G
 3 a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0239
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0239
 3 HG01891.hp2
HG02109.hp2
HG02723.hp1
HG01891.hp2
HG02109.hp2
HG02723.hp1
 intron_variant MODIFIER c.826+6224A>G
c.826+6224A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13099801
chr20:13100001 A
A
 G
G
 83 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(80): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0118
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0179
a0001c0001t0004g0225
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0055g0287
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0041g0107
a0001c0004t0001g0169
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0244
a0001c0005t0009g0079
a0001c0005t0010g0231
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0012t0023g0165
a0002c0002t0001g0190
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0036g0061
a0003c0007t0006g0010
 83 HG00140.hp2
HG00280.hp2
HG00323.hp1
others(80): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp2
HG00639.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp2
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02056.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02155.hp2
HG02258.hp1
HG02293.hp1
HG02602.hp1
HG02622.hp1
HG02738.hp1
HG02738.hp2
HG02895.hp2
HG03017.hp2
HG03041.hp1
HG03225.hp1
HG03239.hp2
HG03491.hp1
HG03654.hp1
HG03669.hp2
HG04115.hp2
NA18747.hp2
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18954.hp1
NA18959.hp2
NA18965.hp1
NA18968.hp1
NA18970.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18998.hp2
NA19000.hp1
NA19001.hp1
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp2
NA19063.hp2
NA19086.hp2
NA19089.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.826+6424A>G
c.826+6424A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13100001
chr20:13100046 T
T
 C
C
 83 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(80): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0118
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0179
a0001c0001t0004g0225
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0055g0287
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0041g0107
a0001c0004t0001g0169
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0244
a0001c0005t0009g0079
a0001c0005t0010g0231
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0012t0023g0165
a0002c0002t0001g0190
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0036g0061
a0003c0007t0006g0010
 83 HG00140.hp2
HG00280.hp2
HG00323.hp1
others(80): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp2
HG00639.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp2
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02056.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02155.hp2
HG02258.hp1
HG02293.hp1
HG02602.hp1
HG02622.hp1
HG02738.hp1
HG02738.hp2
HG02895.hp2
HG03017.hp2
HG03041.hp1
HG03225.hp1
HG03239.hp2
HG03491.hp1
HG03654.hp1
HG03669.hp2
HG04115.hp2
NA18747.hp2
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18954.hp1
NA18959.hp2
NA18965.hp1
NA18968.hp1
NA18970.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18998.hp2
NA19000.hp1
NA19001.hp1
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp2
NA19063.hp2
NA19086.hp2
NA19089.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.826+6469T>C
c.826+6469T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13100046
chr20:13100547 T
T
 C
C
 83 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(80): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0118
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0179
a0001c0001t0004g0225
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0055g0287
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0041g0107
a0001c0004t0001g0169
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0244
a0001c0005t0009g0079
a0001c0005t0010g0231
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0012t0023g0165
a0002c0002t0001g0190
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0036g0061
a0003c0007t0006g0010
 83 HG00140.hp2
HG00280.hp2
HG00323.hp1
others(80): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp2
HG00639.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp2
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02056.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02155.hp2
HG02258.hp1
HG02293.hp1
HG02602.hp1
HG02622.hp1
HG02738.hp1
HG02738.hp2
HG02895.hp2
HG03017.hp2
HG03041.hp1
HG03225.hp1
HG03239.hp2
HG03491.hp1
HG03654.hp1
HG03669.hp2
HG04115.hp2
NA18747.hp2
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18954.hp1
NA18959.hp2
NA18965.hp1
NA18968.hp1
NA18970.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18998.hp2
NA19000.hp1
NA19001.hp1
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp2
NA19063.hp2
NA19086.hp2
NA19089.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.826+6970T>C
c.826+6970T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13100547
chr20:13100696 A
A
 G
G
 2 a0001c0001t0001g0106
a0001c0001t0001g0127
a0001c0001t0001g0106
a0001c0001t0001g0127
 2 NA18973.hp1
NA18998.hp2
NA18973.hp1
NA18998.hp2
 intron_variant MODIFIER c.826+7119A>G
c.826+7119A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13100696
chr20:13100702 A
A
 G
G
 1 a0001c0003t0012g0217
a0001c0003t0012g0217
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.826+7125A>G
c.826+7125A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13100702
chr20:13100801 A
A
 T
T
 13 a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0003t0011g0155
others(10): Show 
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0005t0001g0080
a0002c0002t0008g0006
a0002c0002t0008g0047
 13 HG01891.hp1
HG02630.hp2
HG03041.hp2
others(10): Show 
HG01891.hp1
HG02630.hp2
HG03041.hp2
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03654.hp2
HG03669.hp1
HG04115.hp1
HG04199.hp2
HG04228.hp1
NA19240.hp2
 intron_variant MODIFIER c.826+7224A>T
c.826+7224A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13100801
chr20:13100811 T
T
 C
C
 83 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(80): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0118
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0179
a0001c0001t0004g0225
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0055g0287
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0041g0107
a0001c0004t0001g0169
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0244
a0001c0005t0009g0079
a0001c0005t0010g0231
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0012t0023g0165
a0002c0002t0001g0190
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0036g0061
a0003c0007t0006g0010
 83 HG00140.hp2
HG00280.hp2
HG00323.hp1
others(80): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp2
HG00639.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp2
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02056.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02155.hp2
HG02258.hp1
HG02293.hp1
HG02602.hp1
HG02622.hp1
HG02738.hp1
HG02738.hp2
HG02895.hp2
HG03017.hp2
HG03041.hp1
HG03225.hp1
HG03239.hp2
HG03491.hp1
HG03654.hp1
HG03669.hp2
HG04115.hp2
NA18747.hp2
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18954.hp1
NA18959.hp2
NA18965.hp1
NA18968.hp1
NA18970.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18998.hp2
NA19000.hp1
NA19001.hp1
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp2
NA19063.hp2
NA19086.hp2
NA19089.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.826+7234T>C
c.826+7234T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13100811
chr20:13100820 C
C
 T
T
 1 a0001c0001t0002g0011
a0001c0001t0002g0011
 1 HG00438.hp1
HG00438.hp1
 intron_variant MODIFIER c.826+7243C>T
c.826+7243C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13100820
chr20:13100844 C
C
 T
T
 1 a0001c0004t0009g0170
a0001c0004t0009g0170
 1 HG01106.hp1
HG01106.hp1
 intron_variant MODIFIER c.826+7267C>T
c.826+7267C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13100844
chr20:13100882 G
G
 A
A
 2 a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0027g0263
a0001c0001t0027g0268
 2 HG02630.hp2
HG03041.hp2
HG02630.hp2
HG03041.hp2
 intron_variant MODIFIER c.826+7305G>A
c.826+7305G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13100882
chr20:13100957 CCAGGAAG
others(21): Show 
CCAGGAAGCACCAGTAGGTGAGCAGGGCA
 C
C
 83 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(80): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0118
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0179
a0001c0001t0004g0225
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0055g0287
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0041g0107
a0001c0004t0001g0169
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0244
a0001c0005t0009g0079
a0001c0005t0010g0231
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0012t0023g0165
a0002c0002t0001g0190
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0036g0061
a0003c0007t0006g0010
 83 HG00140.hp2
HG00280.hp2
HG00323.hp1
others(80): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp2
HG00639.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp2
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02056.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02155.hp2
HG02258.hp1
HG02293.hp1
HG02602.hp1
HG02622.hp1
HG02738.hp1
HG02738.hp2
HG02895.hp2
HG03017.hp2
HG03041.hp1
HG03225.hp1
HG03239.hp2
HG03491.hp1
HG03654.hp1
HG03669.hp2
HG04115.hp2
NA18747.hp2
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18954.hp1
NA18959.hp2
NA18965.hp1
NA18968.hp1
NA18970.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18998.hp2
NA19000.hp1
NA19001.hp1
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp2
NA19063.hp2
NA19086.hp2
NA19089.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.826+7401_826+7428d
others(30): Show 
c.826+7401_826+7428delGCAGGGCACAGGAAGCACCAGTAGGTGA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 INFO_REALIGN_3_PRIME chr20 13100957
chr20:13100998 G
G
 A
A
 80 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0098
others(77): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0118
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0179
a0001c0001t0004g0225
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0055g0287
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0003t0041g0107
a0001c0004t0001g0169
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0244
a0001c0005t0009g0079
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0012t0023g0165
a0002c0002t0001g0190
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0036g0061
a0003c0007t0006g0010
 80 HG00140.hp2
HG00280.hp2
HG00323.hp1
others(77): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp2
HG00639.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp2
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02056.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02155.hp2
HG02258.hp1
HG02293.hp1
HG02602.hp1
HG02738.hp1
HG02738.hp2
HG02895.hp2
HG03017.hp2
HG03041.hp1
HG03239.hp2
HG03491.hp1
HG03654.hp1
HG03669.hp2
HG04115.hp2
NA18747.hp2
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18954.hp1
NA18959.hp2
NA18965.hp1
NA18968.hp1
NA18970.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18998.hp2
NA19000.hp1
NA19001.hp1
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19057.hp1
NA19057.hp2
NA19062.hp2
NA19063.hp2
NA19086.hp2
NA19089.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.826+7421G>A
c.826+7421G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13100998
chr20:13101038 T
T
 C
C
 1 a0003c0007t0006g0066
a0003c0007t0006g0066
 1 HG02293.hp2
HG02293.hp2
 intron_variant MODIFIER c.826+7461T>C
c.826+7461T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13101038
chr20:13101074 C
C
 T
T
 1 a0001c0001t0003g0142
a0001c0001t0003g0142
 1 NA18967.hp2
NA18967.hp2
 intron_variant MODIFIER c.826+7497C>T
c.826+7497C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13101074
chr20:13101108 A
A
 G
G
 1 a0001c0001t0004g0226
a0001c0001t0004g0226
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.826+7531A>G
c.826+7531A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13101108
chr20:13101123 C
C
 G
G
 132 a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0156
others(129): Show 
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0003g0157
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0288
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0160
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0056g0253
a0001c0001t0059g0290
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0005g0081
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0212
a0002c0002t0008g0006
a0002c0002t0008g0047
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
 132 HG00642.hp2
HG00673.hp1
HG01069.hp1
others(129): Show 
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01258.hp2
HG01346.hp2
HG01496.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18943.hp1
NA18948.hp1
NA18949.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19060.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19077.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.826+7546C>G
c.826+7546C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13101123
chr20:13101289 C
C
 G
G
 1 a0001c0001t0001g0052
a0001c0001t0001g0052
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.826+7712C>G
c.826+7712C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13101289
chr20:13101464 A
A
 T
T
 5 a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0239
others(2): Show 
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
 5 HG01884.hp2
HG01891.hp2
HG02055.hp1
others(2): Show 
HG01884.hp2
HG01891.hp2
HG02055.hp1
HG02109.hp2
HG02723.hp1
 intron_variant MODIFIER c.826+7887A>T
c.826+7887A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13101464
chr20:13101470 G
G
 T
T
 1 a0001c0004t0003g0094
a0001c0004t0003g0094
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.826+7893G>T
c.826+7893G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13101470
chr20:13101634 C
C
 A
A
 83 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(80): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0118
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0179
a0001c0001t0004g0225
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0055g0287
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0041g0107
a0001c0004t0001g0169
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0244
a0001c0005t0009g0079
a0001c0005t0010g0231
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0012t0023g0165
a0002c0002t0001g0190
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0036g0061
a0003c0007t0006g0010
 83 HG00140.hp2
HG00280.hp2
HG00323.hp1
others(80): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp2
HG00639.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp2
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02056.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02155.hp2
HG02258.hp1
HG02293.hp1
HG02602.hp1
HG02622.hp1
HG02738.hp1
HG02738.hp2
HG02895.hp2
HG03017.hp2
HG03041.hp1
HG03225.hp1
HG03239.hp2
HG03491.hp1
HG03654.hp1
HG03669.hp2
HG04115.hp2
NA18747.hp2
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18954.hp1
NA18959.hp2
NA18965.hp1
NA18968.hp1
NA18970.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18998.hp2
NA19000.hp1
NA19001.hp1
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp2
NA19063.hp2
NA19086.hp2
NA19089.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.826+8057C>A
c.826+8057C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13101634
chr20:13101691 A
A
 G
G
 230 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(227): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0006
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
 230 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(227): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19077.hp1
NA19086.hp2
NA19089.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.826+8114A>G
c.826+8114A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13101691
chr20:13101788 G
G
 A
A
 2 a0001c0005t0047g0068
a0005c0010t0037g0167
a0001c0005t0047g0068
a0005c0010t0037g0167
 2 HG01884.hp1
HG02615.hp2
HG01884.hp1
HG02615.hp2
 intron_variant MODIFIER c.826+8211G>A
c.826+8211G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13101788
chr20:13101791 C
C
 A
A
 1 a0001c0001t0014g0074
a0001c0001t0014g0074
 1 HG01515.hp2
HG01515.hp2
 intron_variant MODIFIER c.826+8214C>A
c.826+8214C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13101791
chr20:13101826 C
C
 T
T
 82 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0098
others(79): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0118
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0179
a0001c0001t0004g0225
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0055g0287
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0041g0107
a0001c0004t0001g0169
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0244
a0001c0005t0009g0079
a0001c0005t0010g0231
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0012t0023g0165
a0002c0002t0001g0190
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0036g0061
a0003c0007t0006g0010
 82 HG00140.hp2
HG00280.hp2
HG00323.hp1
others(79): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp2
HG00639.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp2
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02056.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02155.hp2
HG02258.hp1
HG02293.hp1
HG02602.hp1
HG02622.hp1
HG02738.hp1
HG02738.hp2
HG02895.hp2
HG03017.hp2
HG03041.hp1
HG03239.hp2
HG03491.hp1
HG03654.hp1
HG03669.hp2
HG04115.hp2
NA18747.hp2
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18954.hp1
NA18959.hp2
NA18965.hp1
NA18968.hp1
NA18970.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18998.hp2
NA19000.hp1
NA19001.hp1
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp2
NA19063.hp2
NA19086.hp2
NA19089.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.826+8249C>T
c.826+8249C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13101826
chr20:13101842 G
G
 T
T
 1 a0001c0001t0001g0052
a0001c0001t0001g0052
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.826+8265G>T
c.826+8265G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13101842
chr20:13101852 T
T
 C
C
 230 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(227): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0006
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
 230 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(227): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19077.hp1
NA19086.hp2
NA19089.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.827-8260T>C
c.827-8260T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13101852
chr20:13101940 G
G
 A
A
 2 a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0027g0263
a0001c0001t0027g0268
 2 HG02630.hp2
HG03041.hp2
HG02630.hp2
HG03041.hp2
 intron_variant MODIFIER c.827-8172G>A
c.827-8172G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13101940
chr20:13101978 T
T
 C
C
 1 a0001c0001t0015g0224
a0001c0001t0015g0224
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.827-8134T>C
c.827-8134T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13101978
chr20:13102045 C
C
 T
T
 230 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(227): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0006
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
 230 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(227): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19077.hp1
NA19086.hp2
NA19089.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.827-8067C>T
c.827-8067C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13102045
chr20:13102287 AT
AT
 A
A
 147 a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0143
others(144): Show 
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0187
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0003g0157
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0009g0111
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0056g0253
a0001c0001t0059g0290
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0005g0081
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0008g0006
a0002c0002t0008g0047
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
 147 HG00280.hp1
HG00642.hp2
HG00673.hp1
others(144): Show 
HG00280.hp1
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18943.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19060.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19077.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.827-7823delT
c.827-7823delT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 INFO_REALIGN_3_PRIME chr20 13102287
chr20:13102290 A
A
 C
C
 147 a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0143
others(144): Show 
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0187
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0003g0157
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0009g0111
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0056g0253
a0001c0001t0059g0290
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0005g0081
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0008g0006
a0002c0002t0008g0047
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
 147 HG00280.hp1
HG00642.hp2
HG00673.hp1
others(144): Show 
HG00280.hp1
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18943.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19060.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19077.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.827-7822A>C
c.827-7822A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13102290
chr20:13102293 A
A
 C
C
 147 a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0143
others(144): Show 
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0187
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0003g0157
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0009g0111
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0056g0253
a0001c0001t0059g0290
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0005g0081
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0008g0006
a0002c0002t0008g0047
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
 147 HG00280.hp1
HG00642.hp2
HG00673.hp1
others(144): Show 
HG00280.hp1
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18943.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19060.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19077.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.827-7819A>C
c.827-7819A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13102293
chr20:13102294 G
G
 T
T
 147 a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0143
others(144): Show 
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0187
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0003g0157
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0009g0111
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0056g0253
a0001c0001t0059g0290
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0005g0081
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0008g0006
a0002c0002t0008g0047
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
 147 HG00280.hp1
HG00642.hp2
HG00673.hp1
others(144): Show 
HG00280.hp1
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18943.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19060.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19077.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.827-7818G>T
c.827-7818G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13102294
chr20:13102471 C
C
 T
T
 230 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(227): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0006
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
 230 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(227): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19077.hp1
NA19086.hp2
NA19089.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.827-7641C>T
c.827-7641C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13102471
chr20:13102557 G
G
 A
A
 5 a0001c0003t0028g0249
a0002c0006t0005g0191
a0002c0006t0005g0194
others(2): Show 
a0001c0003t0028g0249
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0037
 5 NA18949.hp2
NA18956.hp2
NA18964.hp1
others(2): Show 
NA18949.hp2
NA18956.hp2
NA18964.hp1
NA18965.hp2
NA19068.hp1
 intron_variant MODIFIER c.827-7555G>A
c.827-7555G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13102557
chr20:13102774 A
A
 G
G
 1 a0001c0005t0001g0089
a0001c0005t0001g0089
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.827-7338A>G
c.827-7338A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13102774
chr20:13102943 C
C
 A
A
 15 a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0149
others(12): Show 
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0187
a0001c0001t0001g0292
a0001c0001t0004g0226
a0001c0001t0004g0291
a0001c0001t0009g0111
a0001c0001t0019g0053
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0054g0286
a0002c0002t0001g0199
a0002c0002t0031g0001
 15 HG00280.hp1
HG01168.hp1
HG01192.hp1
others(12): Show 
HG00280.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp2
HG01346.hp1
HG02132.hp1
HG02257.hp1
HG02258.hp2
HG02922.hp1
HG02965.hp1
HG03139.hp2
HG03209.hp1
HG03516.hp2
NA18945.hp2
NA18948.hp2
 intron_variant MODIFIER c.827-7169C>A
c.827-7169C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13102943
chr20:13102959 T
T
 C
C
 228 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0098
others(225): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0006
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
 228 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(225): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19077.hp1
NA19086.hp2
NA19089.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.827-7153T>C
c.827-7153T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13102959
chr20:13103119 T
T
 C
C
 1 a0001c0001t0039g0121
a0001c0001t0039g0121
 1 HG01071.hp2
HG01071.hp2
 intron_variant MODIFIER c.827-6993T>C
c.827-6993T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13103119
chr20:13103133 G
G
 A
A
 15 a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0149
others(12): Show 
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0187
a0001c0001t0001g0292
a0001c0001t0004g0226
a0001c0001t0004g0291
a0001c0001t0009g0111
a0001c0001t0019g0053
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0054g0286
a0002c0002t0001g0199
a0002c0002t0031g0001
 15 HG00280.hp1
HG01168.hp1
HG01192.hp1
others(12): Show 
HG00280.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp2
HG01346.hp1
HG02132.hp1
HG02257.hp1
HG02258.hp2
HG02922.hp1
HG02965.hp1
HG03139.hp2
HG03209.hp1
HG03516.hp2
NA18945.hp2
NA18948.hp2
 intron_variant MODIFIER c.827-6979G>A
c.827-6979G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13103133
chr20:13103157 C
C
 G
G
 148 a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0143
others(145): Show 
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0187
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0003g0157
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0009g0111
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0056g0253
a0001c0001t0059g0290
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0005g0081
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0008g0006
a0002c0002t0008g0047
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
 148 HG00280.hp1
HG00642.hp2
HG00673.hp1
others(145): Show 
HG00280.hp1
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18943.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19060.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19077.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.827-6955C>G
c.827-6955C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13103157
chr20:13103182 A
A
 G
G
 1 a0001c0001t0001g0052
a0001c0001t0001g0052
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.827-6930A>G
c.827-6930A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13103182
chr20:13103183 C
C
 A
A
 1 a0001c0001t0001g0052
a0001c0001t0001g0052
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.827-6929C>A
c.827-6929C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13103183
chr20:13103187 A
A
 C
C
 6 a0001c0001t0001g0145
a0001c0001t0056g0253
a0001c0003t0005g0109
others(3): Show 
a0001c0001t0001g0145
a0001c0001t0056g0253
a0001c0003t0005g0109
a0001c0004t0042g0184
a0002c0002t0001g0102
a0002c0002t0062g0280
 6 HG02015.hp1
HG02071.hp1
HG02132.hp2
others(3): Show 
HG02015.hp1
HG02071.hp1
HG02132.hp2
NA18956.hp1
NA18990.hp2
NA19074.hp2
 intron_variant MODIFIER c.827-6925A>C
c.827-6925A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13103187
chr20:13103217 T
T
 G
G
 1 a0001c0005t0010g0231
a0001c0005t0010g0231
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.827-6895T>G
c.827-6895T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13103217
chr20:13103279 C
C
 A
A
 2 a0001c0005t0047g0068
a0005c0010t0037g0167
a0001c0005t0047g0068
a0005c0010t0037g0167
 2 HG01884.hp1
HG02615.hp2
HG01884.hp1
HG02615.hp2
 intron_variant MODIFIER c.827-6833C>A
c.827-6833C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13103279
chr20:13103294 C
C
 G
G
 133 a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0156
others(130): Show 
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0003g0157
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0288
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0160
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0056g0253
a0001c0001t0059g0290
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0005g0081
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0212
a0002c0002t0008g0006
a0002c0002t0008g0047
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
 133 HG00642.hp2
HG00673.hp1
HG01069.hp1
others(130): Show 
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01258.hp2
HG01346.hp2
HG01496.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18943.hp1
NA18948.hp1
NA18949.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19060.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19077.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.827-6818C>G
c.827-6818C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13103294
chr20:13103308 T
T
 A
A
 133 a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0156
others(130): Show 
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0003g0157
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0288
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0160
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0056g0253
a0001c0001t0059g0290
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0005g0081
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0212
a0002c0002t0008g0006
a0002c0002t0008g0047
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
 133 HG00642.hp2
HG00673.hp1
HG01069.hp1
others(130): Show 
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01258.hp2
HG01346.hp2
HG01496.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18943.hp1
NA18948.hp1
NA18949.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19060.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19077.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.827-6804T>A
c.827-6804T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13103308
chr20:13103345 C
C
 T
T
 1 a0001c0003t0012g0262
a0001c0003t0012g0262
 1 HG01109.hp2
HG01109.hp2
 intron_variant MODIFIER c.827-6767C>T
c.827-6767C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13103345
chr20:13103404 G
G
 C
C
 1 a0001c0001t0007g0252
a0001c0001t0007g0252
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.827-6708G>C
c.827-6708G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13103404
chr20:13103438 G
G
 A
A
 133 a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0156
others(130): Show 
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0003g0157
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0288
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0160
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0056g0253
a0001c0001t0059g0290
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0005g0081
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0212
a0002c0002t0008g0006
a0002c0002t0008g0047
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
 133 HG00642.hp2
HG00673.hp1
HG01069.hp1
others(130): Show 
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01258.hp2
HG01346.hp2
HG01496.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18943.hp1
NA18948.hp1
NA18949.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19060.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19077.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.827-6674G>A
c.827-6674G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13103438
chr20:13103460 G
G
 A
A
 133 a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0156
others(130): Show 
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0003g0157
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0288
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0160
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0056g0253
a0001c0001t0059g0290
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0005g0081
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0212
a0002c0002t0008g0006
a0002c0002t0008g0047
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
 133 HG00642.hp2
HG00673.hp1
HG01069.hp1
others(130): Show 
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01258.hp2
HG01346.hp2
HG01496.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18943.hp1
NA18948.hp1
NA18949.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19060.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19077.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.827-6652G>A
c.827-6652G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13103460
chr20:13103509 C
C
 T
T
 9 a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
others(6): Show 
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0222
a0001c0001t0004g0288
a0001c0003t0060g0267
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0009g0151
 9 HG02615.hp1
HG02630.hp1
HG02723.hp2
others(6): Show 
HG02615.hp1
HG02630.hp1
HG02723.hp2
HG02809.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG03130.hp2
 intron_variant MODIFIER c.827-6603C>T
c.827-6603C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13103509
chr20:13103587 T
T
 C
C
 1 a0001c0001t0003g0070
a0001c0001t0003g0070
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.827-6525T>C
c.827-6525T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13103587
chr20:13103615 G
G
 A
A
 148 a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0143
others(145): Show 
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0187
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0003g0157
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0009g0111
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0056g0253
a0001c0001t0059g0290
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0005g0081
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0008g0006
a0002c0002t0008g0047
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
 148 HG00280.hp1
HG00642.hp2
HG00673.hp1
others(145): Show 
HG00280.hp1
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18943.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19060.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19077.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.827-6497G>A
c.827-6497G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13103615
chr20:13103882 G
G
 A
A
 3 a0001c0001t0044g0073
a0001c0001t0061g0274
a0002c0018t0002g0054
a0001c0001t0044g0073
a0001c0001t0061g0274
a0002c0018t0002g0054
 3 HG00741.hp2
NA19086.hp1
NA20805.hp2
HG00741.hp2
NA19086.hp1
NA20805.hp2
 intron_variant MODIFIER c.827-6230G>A
c.827-6230G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13103882
chr20:13104143 A
A
 G
G
 148 a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0143
others(145): Show 
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0187
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0003g0157
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0009g0111
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0056g0253
a0001c0001t0059g0290
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0005g0081
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0008g0006
a0002c0002t0008g0047
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
 148 HG00280.hp1
HG00642.hp2
HG00673.hp1
others(145): Show 
HG00280.hp1
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18943.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19060.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19077.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.827-5969A>G
c.827-5969A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13104143
chr20:13104174 A
A
 G
G
 1 a0001c0004t0003g0094
a0001c0004t0003g0094
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.827-5938A>G
c.827-5938A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13104174
chr20:13104251 C
C
 T
T
 1 a0001c0005t0010g0231
a0001c0005t0010g0231
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.827-5861C>T
c.827-5861C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13104251
chr20:13104298 A
A
 G
G
 228 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(225): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0006
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
 228 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(225): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19077.hp1
NA19086.hp2
NA19089.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.827-5814A>G
c.827-5814A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13104298
chr20:13104374 C
C
 A
A
 2 a0001c0001t0063g0232
a0002c0006t0006g0028
a0001c0001t0063g0232
a0002c0006t0006g0028
 2 HG00673.hp1
NA19043.hp2
HG00673.hp1
NA19043.hp2
 intron_variant MODIFIER c.827-5738C>A
c.827-5738C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13104374
chr20:13104376 C
C
 T
T
 120 a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0156
others(117): Show 
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0003g0157
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0288
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0160
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0056g0253
a0001c0001t0059g0290
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0005g0081
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0212
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
 120 HG00642.hp2
HG00673.hp1
HG01069.hp1
others(117): Show 
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01258.hp2
HG01346.hp2
HG01496.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp2
HG03831.hp2
HG04199.hp1
HG04204.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18943.hp1
NA18948.hp1
NA18949.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19060.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19077.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.827-5736C>T
c.827-5736C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13104376
chr20:13104442 C
C
 T
T
 133 a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0156
others(130): Show 
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0003g0157
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0288
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0160
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0056g0253
a0001c0001t0059g0290
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0005g0081
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0212
a0002c0002t0008g0006
a0002c0002t0008g0047
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
 133 HG00642.hp2
HG00673.hp1
HG01069.hp1
others(130): Show 
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01258.hp2
HG01346.hp2
HG01496.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18943.hp1
NA18948.hp1
NA18949.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19060.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19077.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.827-5670C>T
c.827-5670C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13104442
chr20:13104465 C
C
 T
T
 133 a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0156
others(130): Show 
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0003g0157
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0288
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0160
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0056g0253
a0001c0001t0059g0290
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0005g0081
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0212
a0002c0002t0008g0006
a0002c0002t0008g0047
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
 133 HG00642.hp2
HG00673.hp1
HG01069.hp1
others(130): Show 
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01258.hp2
HG01346.hp2
HG01496.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18943.hp1
NA18948.hp1
NA18949.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19060.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19077.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.827-5647C>T
c.827-5647C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13104465
chr20:13104490 C
C
 A
A
 15 a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0149
others(12): Show 
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0187
a0001c0001t0001g0292
a0001c0001t0004g0226
a0001c0001t0004g0291
a0001c0001t0009g0111
a0001c0001t0019g0053
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0054g0286
a0002c0002t0001g0199
a0002c0002t0031g0001
 15 HG00280.hp1
HG01168.hp1
HG01192.hp1
others(12): Show 
HG00280.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp2
HG01346.hp1
HG02132.hp1
HG02257.hp1
HG02258.hp2
HG02922.hp1
HG02965.hp1
HG03139.hp2
HG03209.hp1
HG03516.hp2
NA18945.hp2
NA18948.hp2
 intron_variant MODIFIER c.827-5622C>A
c.827-5622C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13104490
chr20:13104517 C
C
 T
T
 1 a0001c0005t0010g0231
a0001c0005t0010g0231
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.827-5595C>T
c.827-5595C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13104517
chr20:13104522 T
T
 G
G
 8 a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
others(5): Show 
a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0004g0219
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0019g0160
 8 HG01167.hp2
HG02622.hp2
HG02647.hp2
others(5): Show 
HG01167.hp2
HG02622.hp2
HG02647.hp2
HG02809.hp2
HG03225.hp2
HG06807.hp2
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.827-5590T>G
c.827-5590T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13104522
chr20:13104563 T
T
 G
G
 15 a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0149
others(12): Show 
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0187
a0001c0001t0001g0292
a0001c0001t0004g0226
a0001c0001t0004g0291
a0001c0001t0009g0111
a0001c0001t0019g0053
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0054g0286
a0002c0002t0001g0199
a0002c0002t0031g0001
 15 HG00280.hp1
HG01168.hp1
HG01192.hp1
others(12): Show 
HG00280.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp2
HG01346.hp1
HG02132.hp1
HG02257.hp1
HG02258.hp2
HG02922.hp1
HG02965.hp1
HG03139.hp2
HG03209.hp1
HG03516.hp2
NA18945.hp2
NA18948.hp2
 intron_variant MODIFIER c.827-5549T>G
c.827-5549T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13104563
chr20:13104611 G
G
 A
A
 15 a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0149
others(12): Show 
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0187
a0001c0001t0001g0292
a0001c0001t0004g0226
a0001c0001t0004g0291
a0001c0001t0009g0111
a0001c0001t0019g0053
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0054g0286
a0002c0002t0001g0199
a0002c0002t0031g0001
 15 HG00280.hp1
HG01168.hp1
HG01192.hp1
others(12): Show 
HG00280.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp2
HG01346.hp1
HG02132.hp1
HG02257.hp1
HG02258.hp2
HG02922.hp1
HG02965.hp1
HG03139.hp2
HG03209.hp1
HG03516.hp2
NA18945.hp2
NA18948.hp2
 intron_variant MODIFIER c.827-5501G>A
c.827-5501G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13104611
chr20:13104798 A
A
 T
T
 5 a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0239
others(2): Show 
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
 5 HG01884.hp2
HG01891.hp2
HG02055.hp1
others(2): Show 
HG01884.hp2
HG01891.hp2
HG02055.hp1
HG02109.hp2
HG02723.hp1
 intron_variant MODIFIER c.827-5314A>T
c.827-5314A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13104798
chr20:13104812 A
A
 C
C
 1 a0001c0001t0004g0226
a0001c0001t0004g0226
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.827-5300A>C
c.827-5300A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13104812
chr20:13104878 T
T
 A
A
 71 a0001c0001t0001g0143
a0001c0001t0004g0229
a0001c0001t0005g0092
others(68): Show 
a0001c0001t0001g0143
a0001c0001t0004g0229
a0001c0001t0005g0092
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0046g0071
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0065g0284
a0001c0005t0030g0285
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0014t0005g0083
a0002c0002t0001g0212
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0006c0016t0064g0248
a0007c0017t0013g0049
 71 HG00642.hp2
HG00673.hp1
HG01069.hp1
others(68): Show 
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01243.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp2
HG01516.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02055.hp1
HG02056.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02155.hp1
HG02257.hp2
HG02293.hp2
HG02451.hp2
HG02486.hp1
HG02602.hp2
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02922.hp2
HG03017.hp1
HG03130.hp1
HG03195.hp2
HG03239.hp1
HG03831.hp2
HG04199.hp1
HG04204.hp1
NA18747.hp1
NA18943.hp1
NA18948.hp1
NA18949.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp2
NA19012.hp2
NA19060.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19077.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.827-5234T>A
c.827-5234T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13104878
chr20:13104911 C
C
 CA
CA
 15 a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0149
others(12): Show 
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0187
a0001c0001t0001g0292
a0001c0001t0004g0226
a0001c0001t0004g0291
a0001c0001t0009g0111
a0001c0001t0019g0053
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0054g0286
a0002c0002t0001g0199
a0002c0002t0031g0001
 15 HG00280.hp1
HG01168.hp1
HG01192.hp1
others(12): Show 
HG00280.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp2
HG01346.hp1
HG02132.hp1
HG02257.hp1
HG02258.hp2
HG02922.hp1
HG02965.hp1
HG03139.hp2
HG03209.hp1
HG03516.hp2
NA18945.hp2
NA18948.hp2
 intron_variant MODIFIER c.827-5195dupA
c.827-5195dupA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 INFO_REALIGN_3_PRIME chr20 13104911
chr20:13104921 A
A
 C
C
 1 a0001c0003t0012g0217
a0001c0003t0012g0217
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.827-5191A>C
c.827-5191A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13104921
chr20:13104974 G
G
 A
A
 1 a0001c0005t0001g0089
a0001c0005t0001g0089
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.827-5138G>A
c.827-5138G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13104974
chr20:13105009 A
A
 T
T
 2 a0001c0001t0001g0052
a0001c0001t0039g0121
a0001c0001t0001g0052
a0001c0001t0039g0121
 2 HG01071.hp2
HG03225.hp1
HG01071.hp2
HG03225.hp1
 intron_variant MODIFIER c.827-5103A>T
c.827-5103A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13105009
chr20:13105056 G
G
 A
A
 15 a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0149
others(12): Show 
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0187
a0001c0001t0001g0292
a0001c0001t0004g0226
a0001c0001t0004g0291
a0001c0001t0009g0111
a0001c0001t0019g0053
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0054g0286
a0002c0002t0001g0199
a0002c0002t0031g0001
 15 HG00280.hp1
HG01168.hp1
HG01192.hp1
others(12): Show 
HG00280.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp2
HG01346.hp1
HG02132.hp1
HG02257.hp1
HG02258.hp2
HG02922.hp1
HG02965.hp1
HG03139.hp2
HG03209.hp1
HG03516.hp2
NA18945.hp2
NA18948.hp2
 intron_variant MODIFIER c.827-5056G>A
c.827-5056G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13105056
chr20:13105168 G
G
 A
A
 80 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0098
others(77): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0118
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0179
a0001c0001t0004g0225
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0055g0287
a0001c0001t0057g0281
a0001c0001t0063g0232
a0001c0003t0041g0107
a0001c0004t0001g0169
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0244
a0001c0005t0009g0079
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0012t0023g0165
a0002c0002t0001g0190
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0025
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0036g0061
a0003c0007t0006g0010
 80 HG00140.hp2
HG00280.hp2
HG00323.hp1
others(77): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp2
HG00639.hp2
HG00673.hp2
HG00735.hp1
HG01069.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp2
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02056.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02155.hp2
HG02258.hp1
HG02293.hp1
HG02602.hp1
HG02738.hp1
HG02738.hp2
HG02895.hp2
HG03017.hp2
HG03041.hp1
HG03239.hp2
HG03491.hp1
HG03654.hp1
HG03669.hp2
HG04115.hp2
NA18747.hp2
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18954.hp1
NA18959.hp2
NA18965.hp1
NA18968.hp1
NA18970.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18998.hp2
NA19000.hp1
NA19001.hp1
NA19004.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp2
NA19063.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.827-4944G>A
c.827-4944G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13105168
chr20:13105267 G
G
 GA
GA
 75 a0001c0001t0001g0143
a0001c0001t0001g0156
a0001c0001t0001g0158
others(72): Show 
a0001c0001t0001g0143
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0003g0157
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0288
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0019g0160
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0059g0290
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0003g0094
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0047g0068
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0002g0009
a0002c0002t0002g0027
a0002c0006t0005g0086
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0042
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
 75 HG00642.hp2
HG00673.hp1
HG01069.hp1
others(72): Show 
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01258.hp2
HG01496.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG03130.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp2
HG03831.hp2
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18948.hp1
NA18949.hp2
NA18956.hp2
NA18959.hp1
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18971.hp1
NA18988.hp2
NA19000.hp2
NA19001.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19060.hp2
NA19066.hp2
NA19068.hp1
NA19077.hp1
NA19240.hp1
NA20129.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.827-4835dupA
c.827-4835dupA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 INFO_REALIGN_3_PRIME chr20 13105267
chr20:13105267 G
G
 GAA
GAA
 27 a0001c0001t0004g0229
a0001c0001t0005g0092
a0001c0001t0030g0261
others(24): Show 
a0001c0001t0004g0229
a0001c0001t0005g0092
a0001c0001t0030g0261
a0001c0001t0046g0071
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0049g0077
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0065g0284
a0001c0005t0030g0285
a0002c0002t0001g0212
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0052g0087
a0002c0006t0005g0171
a0002c0006t0006g0039
a0002c0006t0006g0043
a0006c0016t0064g0248
a0007c0017t0013g0049
 27 HG01106.hp1
HG01109.hp1
HG01243.hp2
others(24): Show 
HG01106.hp1
HG01109.hp1
HG01243.hp2
HG01346.hp2
HG02109.hp1
HG02155.hp1
HG02257.hp2
HG02602.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp2
HG03017.hp1
HG03130.hp1
HG03195.hp2
HG04199.hp1
HG04204.hp1
NA18943.hp1
NA18960.hp2
NA18961.hp2
NA18968.hp2
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18986.hp2
NA18998.hp1
NA19070.hp2
NA20300.hp1
 intron_variant MODIFIER c.827-4836_827-4835d
others(4): Show 
c.827-4836_827-4835dupAA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 INFO_REALIGN_3_PRIME chr20 13105267
chr20:13105364 T
T
 A
A
 231 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(228): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0135
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0027
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
 231 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(228): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19077.hp1
NA19086.hp2
NA19089.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.827-4748T>A
c.827-4748T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13105364
chr20:13105376 A
A
 G
G
 15 a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0149
others(12): Show 
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0187
a0001c0001t0001g0292
a0001c0001t0004g0226
a0001c0001t0004g0291
a0001c0001t0009g0111
a0001c0001t0019g0053
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0054g0286
a0002c0002t0001g0199
a0002c0002t0031g0001
 15 HG00280.hp1
HG01168.hp1
HG01192.hp1
others(12): Show 
HG00280.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp2
HG01346.hp1
HG02132.hp1
HG02257.hp1
HG02258.hp2
HG02922.hp1
HG02965.hp1
HG03139.hp2
HG03209.hp1
HG03516.hp2
NA18945.hp2
NA18948.hp2
 intron_variant MODIFIER c.827-4736A>G
c.827-4736A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13105376
chr20:13105462 A
A
 G
G
 15 a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0149
others(12): Show 
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0187
a0001c0001t0001g0292
a0001c0001t0004g0226
a0001c0001t0004g0291
a0001c0001t0009g0111
a0001c0001t0019g0053
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0054g0286
a0002c0002t0001g0199
a0002c0002t0031g0001
 15 HG00280.hp1
HG01168.hp1
HG01192.hp1
others(12): Show 
HG00280.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp2
HG01346.hp1
HG02132.hp1
HG02257.hp1
HG02258.hp2
HG02922.hp1
HG02965.hp1
HG03139.hp2
HG03209.hp1
HG03516.hp2
NA18945.hp2
NA18948.hp2
 intron_variant MODIFIER c.827-4650A>G
c.827-4650A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13105462
chr20:13105529 T
T
 A
A
 1 a0001c0004t0009g0208
a0001c0004t0009g0208
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.827-4583T>A
c.827-4583T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13105529
chr20:13105551 C
C
 A
A
 120 a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0156
others(117): Show 
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0003g0157
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0288
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0160
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0056g0253
a0001c0001t0059g0290
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0005g0081
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0212
a0002c0002t0002g0027
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
 120 HG00642.hp2
HG00673.hp1
HG01069.hp1
others(117): Show 
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01258.hp2
HG01346.hp2
HG01496.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp2
HG03831.hp2
HG04199.hp1
HG04204.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18943.hp1
NA18948.hp1
NA18949.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19060.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19077.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.827-4561C>A
c.827-4561C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13105551
chr20:13106125 A
A
 G
G
 1 a0001c0001t0009g0111
a0001c0001t0009g0111
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.827-3987A>G
c.827-3987A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13106125
chr20:13106413 G
G
 C
C
 1 a0001c0001t0001g0210
a0001c0001t0001g0210
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.827-3699G>C
c.827-3699G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13106413
chr20:13106547 G
G
 A
A
 1 a0001c0001t0059g0290
a0001c0001t0059g0290
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.827-3565G>A
c.827-3565G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13106547
chr20:13106718 A
A
 C
C
 1 a0001c0001t0001g0052
a0001c0001t0001g0052
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.827-3394A>C
c.827-3394A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13106718
chr20:13107088 A
A
 G
G
 95 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(92): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0118
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0135
a0001c0001t0003g0179
a0001c0001t0004g0225
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0055g0287
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0011g0082
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0004t0001g0169
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0244
a0001c0005t0009g0079
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0012t0023g0165
a0002c0002t0001g0190
a0002c0002t0002g0008
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0036g0061
a0003c0007t0006g0010
 95 HG00140.hp2
HG00280.hp2
HG00323.hp1
others(92): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00673.hp2
HG00735.hp1
HG00741.hp2
HG01069.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp2
HG01891.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02056.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02132.hp1
HG02155.hp2
HG02258.hp1
HG02293.hp1
HG02486.hp2
HG02602.hp1
HG02738.hp1
HG02738.hp2
HG02895.hp2
HG03017.hp2
HG03041.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp2
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03540.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04228.hp1
NA18747.hp2
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18954.hp1
NA18959.hp2
NA18965.hp1
NA18968.hp1
NA18970.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18998.hp2
NA19000.hp1
NA19001.hp1
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19043.hp2
NA19057.hp2
NA19062.hp2
NA19063.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.827-3024A>G
c.827-3024A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13107088
chr20:13107116 G
G
 A
A
 1 a0002c0002t0002g0051
a0002c0002t0002g0051
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.827-2996G>A
c.827-2996G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13107116
chr20:13107218 A
A
 G
G
 94 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0098
others(91): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0118
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0135
a0001c0001t0003g0179
a0001c0001t0004g0225
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0055g0287
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0011g0082
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0004t0001g0169
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0244
a0001c0005t0009g0079
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0012t0023g0165
a0002c0002t0001g0190
a0002c0002t0002g0008
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0036g0061
a0003c0007t0006g0010
 94 HG00140.hp2
HG00280.hp2
HG00323.hp1
others(91): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00673.hp2
HG00735.hp1
HG00741.hp2
HG01069.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp2
HG01891.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02056.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02132.hp1
HG02155.hp2
HG02258.hp1
HG02293.hp1
HG02486.hp2
HG02602.hp1
HG02738.hp1
HG02738.hp2
HG02895.hp2
HG03017.hp2
HG03041.hp1
HG03209.hp2
HG03239.hp2
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03540.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04228.hp1
NA18747.hp2
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18954.hp1
NA18959.hp2
NA18965.hp1
NA18968.hp1
NA18970.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18998.hp2
NA19000.hp1
NA19001.hp1
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19043.hp2
NA19057.hp2
NA19062.hp2
NA19063.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.827-2894A>G
c.827-2894A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13107218
chr20:13107263 T
T
 C
C
 4 a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0223
others(1): Show 
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0223
a0001c0003t0012g0245
 4 HG03471.hp2
HG03486.hp1
HG03540.hp1
others(1): Show 
HG03471.hp2
HG03486.hp1
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.827-2849T>C
c.827-2849T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13107263
chr20:13107340 G
G
 T
T
 1 a0002c0006t0006g0023
a0002c0006t0006g0023
 1 NA18988.hp2
NA18988.hp2
 intron_variant MODIFIER c.827-2772G>T
c.827-2772G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13107340
chr20:13107365 C
C
 T
T
 1 a0001c0003t0006g0040
a0001c0003t0006g0040
 1 HG01978.hp1
HG01978.hp1
 intron_variant MODIFIER c.827-2747C>T
c.827-2747C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13107365
chr20:13107650 C
C
 A
A
 1 a0001c0001t0007g0216
a0001c0001t0007g0216
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.827-2462C>A
c.827-2462C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13107650
chr20:13107659 C
C
 G
G
 1 a0001c0001t0004g0273
a0001c0001t0004g0273
 1 NA18954.hp1
NA18954.hp1
 intron_variant MODIFIER c.827-2453C>G
c.827-2453C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13107659
chr20:13107678 C
C
 T
T
 1 a0001c0001t0021g0064
a0001c0001t0021g0064
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.827-2434C>T
c.827-2434C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13107678
chr20:13107679 G
G
 A
A
 2 a0001c0005t0005g0069
a0002c0002t0002g0046
a0001c0005t0005g0069
a0002c0002t0002g0046
 2 HG03831.hp1
HG06807.hp1
HG03831.hp1
HG06807.hp1
 intron_variant MODIFIER c.827-2433G>A
c.827-2433G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13107679
chr20:13107775 CT
CT
 C
C
 119 a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0156
others(116): Show 
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0003g0131
a0001c0001t0003g0157
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0238
a0001c0001t0004g0288
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0160
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0056g0253
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0005g0081
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0212
a0002c0002t0002g0027
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
 119 HG00642.hp2
HG00673.hp1
HG01069.hp1
others(116): Show 
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01258.hp2
HG01346.hp2
HG01496.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp2
HG03831.hp2
HG04199.hp1
HG04204.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18943.hp1
NA18949.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp1
NA18986.hp2
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19060.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19077.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.827-2323delT
c.827-2323delT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 INFO_REALIGN_3_PRIME chr20 13107775
chr20:13107964 T
T
 C
C
 200 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0098
others(197): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0118
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0135
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0212
a0002c0002t0002g0008
a0002c0002t0002g0027
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
 200 HG00140.hp2
HG00280.hp2
HG00323.hp1
others(197): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp1
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18944.hp2
NA18946.hp2
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp2
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19077.hp1
NA19086.hp2
NA19089.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.827-2148T>C
c.827-2148T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13107964
chr20:13108221 T
T
 C
C
 1 a0001c0001t0010g0220
a0001c0001t0010g0220
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.827-1891T>C
c.827-1891T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13108221
chr20:13108554 T
T
 C
C
 2 a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0001t0059g0290
a0001c0001t0063g0232
 2 NA19030.hp1
NA19043.hp2
NA19030.hp1
NA19043.hp2
 intron_variant MODIFIER c.827-1558T>C
c.827-1558T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13108554
chr20:13108709 G
G
 T
T
 2 a0001c0001t0005g0128
a0001c0001t0010g0215
a0001c0001t0005g0128
a0001c0001t0010g0215
 2 HG01255.hp1
HG02559.hp1
HG01255.hp1
HG02559.hp1
 intron_variant MODIFIER c.827-1403G>T
c.827-1403G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13108709
chr20:13108726 C
C
 A
A
 129 a0001c0001t0001g0052
a0001c0001t0001g0143
a0001c0001t0001g0145
others(126): Show 
a0001c0001t0001g0052
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0003g0157
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0288
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0160
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0056g0253
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0002g0027
a0002c0002t0013g0041
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
 129 HG00642.hp2
HG00673.hp1
HG01069.hp1
others(126): Show 
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp2
HG03831.hp2
HG04199.hp1
HG04204.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18943.hp1
NA18948.hp1
NA18949.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19060.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19077.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.827-1386C>A
c.827-1386C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13108726
chr20:13109095 A
A
 G
G
 20 a0001c0001t0001g0145
a0001c0001t0005g0128
a0001c0001t0010g0215
others(17): Show 
a0001c0001t0001g0145
a0001c0001t0005g0128
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0045g0163
a0001c0001t0056g0253
a0001c0003t0005g0109
a0001c0004t0042g0184
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0048g0164
a0001c0012t0023g0165
a0002c0002t0062g0280
a0005c0011t0023g0166
 20 HG01243.hp1
HG01255.hp1
HG02055.hp2
others(17): Show 
HG01243.hp1
HG01255.hp1
HG02055.hp2
HG02071.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02647.hp1
HG02895.hp2
HG03139.hp1
HG03471.hp1
NA18522.hp2
NA18956.hp1
NA18990.hp2
NA19043.hp1
NA19074.hp2
 intron_variant MODIFIER c.827-1017A>G
c.827-1017A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13109095
chr20:13109146 C
C
 T
T
 2 a0001c0003t0006g0040
a0001c0003t0010g0282
a0001c0003t0006g0040
a0001c0003t0010g0282
 2 HG01978.hp1
HG03831.hp2
HG01978.hp1
HG03831.hp2
 intron_variant MODIFIER c.827-966C>T
c.827-966C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13109146
chr20:13109179 T
T
 G
G
 1 a0001c0003t0029g0283
a0001c0003t0029g0283
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.827-933T>G
c.827-933T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13109179
chr20:13109252 C
C
 T
T
 12 a0001c0003t0011g0082
a0001c0003t0011g0155
a0001c0003t0011g0162
others(9): Show 
a0001c0003t0011g0082
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0005t0001g0080
a0002c0002t0008g0006
a0002c0002t0008g0047
 12 HG01891.hp1
HG02486.hp2
HG03209.hp2
others(9): Show 
HG01891.hp1
HG02486.hp2
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03654.hp2
HG03669.hp1
HG04115.hp1
HG04199.hp2
HG04228.hp1
NA19240.hp2
 intron_variant MODIFIER c.827-860C>T
c.827-860C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13109252
chr20:13109554 A
A
 G
G
 1 a0001c0004t0003g0094
a0001c0004t0003g0094
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.827-558A>G
c.827-558A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13109554
chr20:13109733 G
G
 A
A
 25 a0001c0001t0001g0145
a0001c0001t0005g0128
a0001c0001t0010g0215
others(22): Show 
a0001c0001t0001g0145
a0001c0001t0005g0128
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0045g0163
a0001c0001t0056g0253
a0001c0003t0005g0109
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0012g0258
a0001c0003t0058g0257
a0001c0004t0042g0184
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0048g0164
a0001c0012t0023g0165
a0002c0002t0062g0280
a0005c0011t0023g0166
 25 HG01106.hp2
HG01243.hp1
HG01255.hp1
others(22): Show 
HG01106.hp2
HG01243.hp1
HG01255.hp1
HG02055.hp2
HG02071.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02647.hp1
HG02895.hp2
HG03139.hp1
HG03195.hp1
HG03471.hp1
HG03540.hp2
NA18522.hp2
NA18956.hp1
NA18990.hp2
NA19030.hp2
NA19043.hp1
NA19074.hp2
 intron_variant MODIFIER c.827-379G>A
c.827-379G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13109733
chr20:13109780 G
G
 T
T
 2 a0001c0001t0063g0232
a0001c0005t0047g0068
a0001c0001t0063g0232
a0001c0005t0047g0068
 2 HG02615.hp2
NA19043.hp2
HG02615.hp2
NA19043.hp2
 intron_variant MODIFIER c.827-332G>T
c.827-332G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13109780
chr20:13109796 C
C
 A
A
 3 a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0005t0047g0068
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0005t0047g0068
 3 HG02615.hp2
NA19030.hp1
NA19043.hp2
HG02615.hp2
NA19030.hp1
NA19043.hp2
 intron_variant MODIFIER c.827-316C>A
c.827-316C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13109796
chr20:13109800 G
G
 C
C
 1 a0001c0001t0001g0052
a0001c0001t0001g0052
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.827-312G>C
c.827-312G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13109800
chr20:13109823 C
C
 T
T
 1 a0001c0001t0004g0238
a0001c0001t0004g0238
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.827-289C>T
c.827-289C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13109823
chr20:13110081 A
A
 T
T
 26 a0001c0001t0001g0052
a0001c0001t0001g0145
a0001c0001t0005g0128
others(23): Show 
a0001c0001t0001g0052
a0001c0001t0001g0145
a0001c0001t0005g0128
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0045g0163
a0001c0001t0056g0253
a0001c0003t0005g0109
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0012g0258
a0001c0003t0058g0257
a0001c0004t0042g0184
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0048g0164
a0001c0012t0023g0165
a0002c0002t0062g0280
a0005c0011t0023g0166
 26 HG01106.hp2
HG01243.hp1
HG01255.hp1
others(23): Show 
HG01106.hp2
HG01243.hp1
HG01255.hp1
HG02055.hp2
HG02071.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02647.hp1
HG02895.hp2
HG03139.hp1
HG03195.hp1
HG03225.hp1
HG03471.hp1
HG03540.hp2
NA18522.hp2
NA18956.hp1
NA18990.hp2
NA19030.hp2
NA19043.hp1
NA19074.hp2
 intron_variant MODIFIER c.827-31A>T
c.827-31A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13110081
chr20:13110086 AT
AT
 A
A
 19 a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
others(16): Show 
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0222
a0001c0001t0004g0288
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0019g0160
a0001c0003t0060g0267
a0001c0004t0003g0094
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0009g0151
a0005c0010t0037g0167
 19 HG01167.hp2
HG01884.hp1
HG01884.hp2
others(16): Show 
HG01167.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp1
HG02109.hp2
HG02486.hp1
HG02615.hp1
HG02630.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG03130.hp2
HG03516.hp1
NA20805.hp1
 intron_variant MODIFIER c.827-15delT
c.827-15delT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 INFO_REALIGN_3_PRIME chr20 13110086
chr20:13110098 G
G
 C
C
 128 a0001c0001t0001g0052
a0001c0001t0001g0143
a0001c0001t0001g0145
others(125): Show 
a0001c0001t0001g0052
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0003g0157
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0288
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0160
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0056g0253
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0002g0027
a0002c0002t0013g0041
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
 128 HG00642.hp2
HG00673.hp1
HG01069.hp1
others(125): Show 
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp2
HG03831.hp2
HG04199.hp1
HG04204.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18943.hp1
NA18948.hp1
NA18949.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19060.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19077.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.827-14G>C
c.827-14G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 6/11 chr20 13110098
chr20:13110353 C
C
 A
A
 1 a0001c0001t0004g0233
a0001c0001t0004g0233
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.932+136C>A
c.932+136C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13110353
chr20:13110404 T
T
 C
C
 1 a0001c0003t0012g0223
a0001c0003t0012g0223
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.932+187T>C
c.932+187T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13110404
chr20:13110507 C
C
 T
T
 1 a0001c0005t0016g0147
a0001c0005t0016g0147
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.932+290C>T
c.932+290C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13110507
chr20:13110528 G
G
 A
A
 1 a0002c0002t0052g0087
a0002c0002t0052g0087
 1 HG02155.hp1
HG02155.hp1
 intron_variant MODIFIER c.932+311G>A
c.932+311G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13110528
chr20:13110562 C
C
 A
A
 1 a0005c0011t0023g0166
a0005c0011t0023g0166
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.932+345C>A
c.932+345C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13110562
chr20:13110603 G
G
 A
A
 119 a0001c0001t0001g0052
a0001c0001t0001g0143
a0001c0001t0001g0145
others(116): Show 
a0001c0001t0001g0052
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0003g0157
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0288
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0160
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0056g0253
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0002g0027
a0002c0002t0013g0041
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
 119 HG00642.hp2
HG00673.hp1
HG01069.hp1
others(116): Show 
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02109.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp2
HG03831.hp2
HG04199.hp1
HG04204.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18943.hp1
NA18948.hp1
NA18949.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19060.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19077.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.932+386G>A
c.932+386G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13110603
chr20:13110635 C
C
 T
T
 1 a0001c0005t0047g0068
a0001c0005t0047g0068
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.932+418C>T
c.932+418C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13110635
chr20:13110804 C
C
 T
T
 1 a0001c0005t0005g0069
a0001c0005t0005g0069
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.932+587C>T
c.932+587C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13110804
chr20:13110856 T
T
 C
C
 121 a0001c0001t0001g0052
a0001c0001t0001g0143
a0001c0001t0001g0145
others(118): Show 
a0001c0001t0001g0052
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0003g0157
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0288
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0160
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0056g0253
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0002g0027
a0002c0002t0013g0041
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
 121 HG00642.hp2
HG00673.hp1
HG01069.hp1
others(118): Show 
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02109.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp2
HG03831.hp2
HG04199.hp1
HG04204.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18943.hp1
NA18948.hp1
NA18949.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19060.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19077.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.932+639T>C
c.932+639T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13110856
chr20:13111019 G
G
 A
A
 230 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(227): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0008
a0002c0002t0002g0027
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
 230 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(227): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19077.hp1
NA19086.hp2
NA19089.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.932+802G>A
c.932+802G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13111019
chr20:13111110 T
T
 G
G
 94 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(91): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0118
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0135
a0001c0001t0003g0179
a0001c0001t0004g0225
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0055g0287
a0001c0001t0057g0281
a0001c0001t0063g0232
a0001c0003t0011g0082
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0004t0001g0169
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0004g0244
a0001c0009t0011g0161
a0002c0002t0001g0190
a0002c0002t0002g0008
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0021g0065
a0002c0002t0036g0061
a0003c0007t0006g0010
 94 HG00140.hp2
HG00280.hp2
HG00323.hp1
others(91): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00673.hp2
HG00735.hp1
HG01069.hp2
HG01123.hp1
HG01167.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01515.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02132.hp1
HG02155.hp2
HG02258.hp1
HG02293.hp1
HG02486.hp1
HG02486.hp2
HG02602.hp1
HG02723.hp1
HG02738.hp1
HG03017.hp2
HG03041.hp1
HG03209.hp2
HG03239.hp2
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04228.hp1
NA18522.hp1
NA18747.hp2
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18954.hp1
NA18959.hp2
NA18964.hp2
NA18965.hp1
NA18968.hp1
NA18970.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18998.hp2
NA19000.hp1
NA19001.hp1
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19062.hp2
NA19063.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.932+893T>G
c.932+893T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13111110
chr20:13111139 C
C
 T
T
 1 a0001c0001t0001g0188
a0001c0001t0001g0188
 1 HG02074.hp2
HG02074.hp2
 intron_variant MODIFIER c.932+922C>T
c.932+922C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13111139
chr20:13111156 C
C
 T
T
 5 a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
others(2): Show 
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0012g0258
a0001c0003t0058g0257
 5 HG01106.hp2
HG02280.hp1
HG03195.hp1
others(2): Show 
HG01106.hp2
HG02280.hp1
HG03195.hp1
HG03540.hp2
NA19030.hp2
 intron_variant MODIFIER c.932+939C>T
c.932+939C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13111156
chr20:13111370 C
C
 T
T
 1 a0001c0001t0057g0281
a0001c0001t0057g0281
 1 HG02015.hp2
HG02015.hp2
 intron_variant MODIFIER c.932+1153C>T
c.932+1153C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13111370
chr20:13111377 C
C
 T
T
 2 a0001c0001t0001g0052
a0001c0005t0047g0068
a0001c0001t0001g0052
a0001c0005t0047g0068
 2 HG02615.hp2
HG03225.hp1
HG02615.hp2
HG03225.hp1
 intron_variant MODIFIER c.932+1160C>T
c.932+1160C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13111377
chr20:13111458 G
G
 A
A
 1 a0001c0001t0001g0145
a0001c0001t0001g0145
 1 HG02132.hp2
HG02132.hp2
 intron_variant MODIFIER c.932+1241G>A
c.932+1241G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13111458
chr20:13111507 G
G
 A
A
 5 a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
others(2): Show 
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0002c0002t0008g0006
a0002c0002t0008g0047
 5 HG03654.hp2
HG03669.hp1
HG04115.hp1
others(2): Show 
HG03654.hp2
HG03669.hp1
HG04115.hp1
HG04199.hp2
HG04228.hp1
 intron_variant MODIFIER c.932+1290G>A
c.932+1290G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13111507
chr20:13111835 T
T
 C
C
 235 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(232): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0135
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0008
a0002c0002t0002g0027
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
 235 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(232): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19077.hp1
NA19086.hp2
NA19089.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.932+1618T>C
c.932+1618T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13111835
chr20:13112018 C
C
 T
T
 20 a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
others(17): Show 
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0003t0011g0082
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0005t0001g0080
a0001c0009t0011g0161
a0002c0002t0008g0006
a0002c0002t0008g0047
 20 HG01884.hp2
HG01891.hp1
HG01891.hp2
others(17): Show 
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp2
HG02486.hp1
HG02486.hp2
HG02723.hp1
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03654.hp2
HG03669.hp1
HG04115.hp1
HG04199.hp2
HG04228.hp1
NA18522.hp1
NA19240.hp2
NA20805.hp1
 intron_variant MODIFIER c.932+1801C>T
c.932+1801C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13112018
chr20:13112086 C
C
 T
T
 22 a0001c0001t0001g0052
a0001c0001t0001g0145
a0001c0001t0005g0128
others(19): Show 
a0001c0001t0001g0052
a0001c0001t0001g0145
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0045g0163
a0001c0001t0056g0253
a0001c0003t0005g0109
a0001c0004t0042g0184
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0048g0164
a0001c0012t0023g0165
a0002c0002t0062g0280
a0005c0011t0023g0166
 22 HG01243.hp1
HG01255.hp1
HG02055.hp2
others(19): Show 
HG01243.hp1
HG01255.hp1
HG02055.hp2
HG02071.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02647.hp1
HG02895.hp2
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03486.hp2
NA18522.hp2
NA18956.hp1
NA18990.hp2
NA19043.hp1
NA19074.hp2
 intron_variant MODIFIER c.932+1869C>T
c.932+1869C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13112086
chr20:13112155 C
C
 A
A
 1 a0001c0005t0047g0068
a0001c0005t0047g0068
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.932+1938C>A
c.932+1938C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13112155
chr20:13112371 C
C
 T
T
 2 a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0027g0263
a0001c0001t0027g0268
 2 HG02630.hp2
HG03041.hp2
HG02630.hp2
HG03041.hp2
 intron_variant MODIFIER c.932+2154C>T
c.932+2154C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13112371
chr20:13112520 G
G
 C
C
 1 a0001c0003t0012g0217
a0001c0003t0012g0217
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.932+2303G>C
c.932+2303G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13112520
chr20:13112539 T
T
 G
G
 96 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(93): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0118
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0135
a0001c0001t0003g0179
a0001c0001t0004g0225
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0055g0287
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0011g0082
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0004t0001g0169
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0004g0244
a0001c0009t0011g0161
a0002c0002t0001g0190
a0002c0002t0002g0008
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0021g0065
a0002c0002t0036g0061
a0003c0007t0006g0010
 96 HG00140.hp2
HG00280.hp2
HG00323.hp1
others(93): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00673.hp2
HG00735.hp1
HG00741.hp2
HG01069.hp2
HG01123.hp1
HG01167.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01515.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02132.hp1
HG02155.hp2
HG02258.hp1
HG02293.hp1
HG02486.hp1
HG02486.hp2
HG02602.hp1
HG02723.hp1
HG02738.hp1
HG03017.hp2
HG03041.hp1
HG03209.hp2
HG03239.hp2
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03540.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04228.hp1
NA18522.hp1
NA18747.hp2
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18954.hp1
NA18959.hp2
NA18964.hp2
NA18965.hp1
NA18968.hp1
NA18970.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18998.hp2
NA19000.hp1
NA19001.hp1
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19030.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19062.hp2
NA19063.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.932+2322T>G
c.932+2322T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13112539
chr20:13112783 A
A
 G
G
 1 a0001c0004t0001g0169
a0001c0004t0001g0169
 1 NA18985.hp2
NA18985.hp2
 intron_variant MODIFIER c.932+2566A>G
c.932+2566A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13112783
chr20:13113058 CCATAATC
others(3): Show 
CCATAATCCCA
 C
C
 1 a0001c0005t0001g0089
a0001c0005t0001g0089
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.932+2842_932+2851d
others(12): Show 
c.932+2842_932+2851delCATAATCCCA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13113058
chr20:13113197 C
C
 A
A
 111 a0001c0001t0001g0052
a0001c0001t0001g0143
a0001c0001t0001g0145
others(108): Show 
a0001c0001t0001g0052
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0160
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0056g0253
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0003g0085
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0010g0231
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0002g0008
a0002c0002t0002g0027
a0002c0002t0013g0041
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
 111 HG00642.hp2
HG00673.hp1
HG01069.hp1
others(108): Show 
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02080.hp2
HG02109.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02280.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02738.hp2
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp2
HG03017.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03540.hp2
HG03831.hp2
HG04199.hp1
HG04204.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18943.hp1
NA18948.hp1
NA18949.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19060.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19077.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.932+2980C>A
c.932+2980C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13113197
chr20:13113213 G
G
 A
A
 99 a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0143
others(96): Show 
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0143
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0004g0219
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0065g0284
a0001c0005t0003g0085
a0001c0005t0009g0079
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0027
a0002c0002t0013g0041
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0006c0016t0064g0248
a0007c0017t0013g0049
 99 HG00280.hp1
HG00642.hp2
HG00673.hp1
others(96): Show 
HG00280.hp1
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02056.hp1
HG02109.hp1
HG02135.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02293.hp2
HG02451.hp2
HG02602.hp2
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02738.hp2
HG02809.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03516.hp2
HG03831.hp2
HG04199.hp1
HG04204.hp1
HG06807.hp2
NA18747.hp1
NA18943.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp2
NA19011.hp2
NA19012.hp2
NA19060.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19077.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.932+2996G>A
c.932+2996G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13113213
chr20:13113279 G
G
 A
A
 1 a0001c0001t0004g0291
a0001c0001t0004g0291
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.932+3062G>A
c.932+3062G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13113279
chr20:13113403 G
G
 C
C
 233 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(230): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0008
a0002c0002t0002g0027
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
 233 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(230): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00609.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19077.hp1
NA19086.hp2
NA19089.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.932+3186G>C
c.932+3186G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13113403
chr20:13113422 C
C
 A
A
 21 a0001c0001t0001g0145
a0001c0001t0005g0128
a0001c0001t0007g0216
others(18): Show 
a0001c0001t0001g0145
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0045g0163
a0001c0001t0056g0253
a0001c0003t0005g0109
a0001c0004t0042g0184
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0048g0164
a0001c0012t0023g0165
a0002c0002t0062g0280
a0005c0011t0023g0166
 21 HG01243.hp1
HG01255.hp1
HG02055.hp2
others(18): Show 
HG01243.hp1
HG01255.hp1
HG02055.hp2
HG02071.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02647.hp1
HG02895.hp2
HG03139.hp1
HG03471.hp1
HG03486.hp2
NA18522.hp2
NA18956.hp1
NA18990.hp2
NA19043.hp1
NA19074.hp2
 intron_variant MODIFIER c.932+3205C>A
c.932+3205C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13113422
chr20:13114288 A
A
 T
T
 235 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(232): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0135
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0008
a0002c0002t0002g0027
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
 235 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(232): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19077.hp1
NA19086.hp2
NA19089.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.933-3218A>T
c.933-3218A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13114288
chr20:13114320 T
T
 A
A
 22 a0001c0001t0001g0052
a0001c0001t0001g0145
a0001c0001t0005g0128
others(19): Show 
a0001c0001t0001g0052
a0001c0001t0001g0145
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0045g0163
a0001c0001t0056g0253
a0001c0003t0005g0109
a0001c0004t0042g0184
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0048g0164
a0001c0012t0023g0165
a0002c0002t0062g0280
a0005c0011t0023g0166
 22 HG01243.hp1
HG01255.hp1
HG02055.hp2
others(19): Show 
HG01243.hp1
HG01255.hp1
HG02055.hp2
HG02071.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02647.hp1
HG02895.hp2
HG03139.hp1
HG03225.hp1
HG03471.hp1
HG03486.hp2
NA18522.hp2
NA18956.hp1
NA18990.hp2
NA19043.hp1
NA19074.hp2
 intron_variant MODIFIER c.933-3186T>A
c.933-3186T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13114320
chr20:13114343 C
C
 T
T
 2 a0001c0003t0006g0040
a0001c0003t0010g0282
a0001c0003t0006g0040
a0001c0003t0010g0282
 2 HG01978.hp1
HG03831.hp2
HG01978.hp1
HG03831.hp2
 intron_variant MODIFIER c.933-3163C>T
c.933-3163C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13114343
chr20:13114540 A
A
 G
G
 119 a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0143
others(116): Show 
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0143
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0004g0219
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0049g0077
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0003g0085
a0001c0005t0009g0079
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0027
a0002c0002t0008g0006
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0006c0016t0064g0248
a0007c0017t0013g0049
 119 HG00280.hp1
HG00642.hp2
HG00673.hp1
others(116): Show 
HG00280.hp1
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02293.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02602.hp2
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02723.hp1
HG02738.hp2
HG02809.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp2
NA19011.hp2
NA19012.hp2
NA19060.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19077.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.933-2966A>G
c.933-2966A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13114540
chr20:13114585 T
T
 C
C
 74 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(71): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0118
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0135
a0001c0001t0003g0179
a0001c0001t0004g0225
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0055g0287
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0003t0041g0107
a0001c0004t0001g0169
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0005t0001g0089
a0001c0005t0004g0244
a0002c0002t0001g0190
a0002c0002t0002g0008
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0004
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0021g0065
a0002c0002t0036g0061
a0003c0007t0006g0010
 74 HG00140.hp2
HG00280.hp2
HG00323.hp1
others(71): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00673.hp2
HG00735.hp1
HG00741.hp2
HG01069.hp2
HG01123.hp1
HG01167.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01515.hp2
HG01975.hp1
HG02015.hp2
HG02056.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02132.hp1
HG02155.hp2
HG02258.hp1
HG02293.hp1
HG02602.hp1
HG02738.hp1
HG03017.hp2
HG03041.hp1
HG03239.hp2
HG03491.hp1
HG03654.hp1
HG03669.hp2
HG04115.hp2
NA18747.hp2
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18954.hp1
NA18959.hp2
NA18964.hp2
NA18965.hp1
NA18968.hp1
NA18970.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18998.hp2
NA19000.hp1
NA19001.hp1
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp2
NA19063.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.933-2921T>C
c.933-2921T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13114585
chr20:13114779 AAGG
AAGG
 A
A
 9 a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
others(6): Show 
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0222
a0001c0001t0004g0288
a0001c0003t0060g0267
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0009g0151
 9 HG02615.hp1
HG02630.hp1
HG02723.hp2
others(6): Show 
HG02615.hp1
HG02630.hp1
HG02723.hp2
HG02809.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG03130.hp2
 intron_variant MODIFIER c.933-2724_933-2722d
others(5): Show 
c.933-2724_933-2722delGAG
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 INFO_REALIGN_3_PRIME chr20 13114779
chr20:13114781 G
G
 C
C
 2 a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0001t0059g0290
a0001c0001t0063g0232
 2 NA19030.hp1
NA19043.hp2
NA19030.hp1
NA19043.hp2
 intron_variant MODIFIER c.933-2725G>C
c.933-2725G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13114781
chr20:13114789 T
T
 C
C
 1 a0001c0003t0012g0258
a0001c0003t0012g0258
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.933-2717T>C
c.933-2717T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13114789
chr20:13115211 G
G
 A
A
 111 a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0143
others(108): Show 
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0143
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0003g0157
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0003t0060g0267
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0065g0284
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0027
a0002c0002t0013g0041
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0006c0016t0064g0248
a0007c0017t0013g0049
 111 HG00280.hp1
HG00642.hp2
HG00673.hp1
others(108): Show 
HG00280.hp1
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02056.hp1
HG02109.hp1
HG02135.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03516.hp1
HG03516.hp2
HG03831.hp2
HG04199.hp1
HG04204.hp1
HG06807.hp2
NA18747.hp1
NA18943.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp2
NA19011.hp2
NA19012.hp2
NA19060.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19077.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.933-2295G>A
c.933-2295G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13115211
chr20:13115222 C
C
 T
T
 9 a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
others(6): Show 
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0222
a0001c0001t0004g0288
a0001c0003t0060g0267
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0009g0151
 9 HG02615.hp1
HG02630.hp1
HG02723.hp2
others(6): Show 
HG02615.hp1
HG02630.hp1
HG02723.hp2
HG02809.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG03130.hp2
 intron_variant MODIFIER c.933-2284C>T
c.933-2284C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13115222
chr20:13115293 G
G
 A
A
 99 a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0143
others(96): Show 
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0143
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0004g0219
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0065g0284
a0001c0005t0003g0085
a0001c0005t0009g0079
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0027
a0002c0002t0013g0041
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0006c0016t0064g0248
a0007c0017t0013g0049
 99 HG00280.hp1
HG00642.hp2
HG00673.hp1
others(96): Show 
HG00280.hp1
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02056.hp1
HG02109.hp1
HG02135.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02293.hp2
HG02451.hp2
HG02602.hp2
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02738.hp2
HG02809.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03516.hp2
HG03831.hp2
HG04199.hp1
HG04204.hp1
HG06807.hp2
NA18747.hp1
NA18943.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp2
NA19011.hp2
NA19012.hp2
NA19060.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19077.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.933-2213G>A
c.933-2213G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13115293
chr20:13115487 T
T
 G
G
 12 a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
others(9): Show 
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0222
a0001c0001t0004g0288
a0001c0003t0060g0267
a0001c0004t0003g0094
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0009g0151
a0001c0005t0016g0147
a0005c0010t0037g0167
 12 HG01884.hp1
HG02280.hp2
HG02615.hp1
others(9): Show 
HG01884.hp1
HG02280.hp2
HG02615.hp1
HG02630.hp1
HG02723.hp2
HG02809.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG03130.hp2
HG03516.hp1
 intron_variant MODIFIER c.933-2019T>G
c.933-2019T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13115487
chr20:13115507 C
C
 CA
CA
 12 a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
others(9): Show 
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0222
a0001c0001t0004g0288
a0001c0003t0060g0267
a0001c0004t0003g0094
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0009g0151
a0001c0005t0016g0147
a0005c0010t0037g0167
 12 HG01884.hp1
HG02280.hp2
HG02615.hp1
others(9): Show 
HG01884.hp1
HG02280.hp2
HG02615.hp1
HG02630.hp1
HG02723.hp2
HG02809.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG03130.hp2
HG03516.hp1
 intron_variant MODIFIER c.933-1992dupA
c.933-1992dupA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 INFO_REALIGN_3_PRIME chr20 13115507
chr20:13115522 T
T
 C
C
 74 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(71): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0118
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0135
a0001c0001t0003g0179
a0001c0001t0004g0225
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0044g0073
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0055g0287
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0003t0041g0107
a0001c0004t0001g0169
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0005t0001g0089
a0001c0005t0004g0244
a0002c0002t0001g0190
a0002c0002t0002g0008
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0004
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0021g0065
a0002c0002t0036g0061
a0003c0007t0006g0010
 74 HG00140.hp2
HG00280.hp2
HG00323.hp1
others(71): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00673.hp2
HG00735.hp1
HG00741.hp2
HG01069.hp2
HG01123.hp1
HG01167.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01515.hp2
HG01975.hp1
HG02015.hp2
HG02056.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02132.hp1
HG02155.hp2
HG02258.hp1
HG02293.hp1
HG02602.hp1
HG02738.hp1
HG03017.hp2
HG03041.hp1
HG03239.hp2
HG03491.hp1
HG03654.hp1
HG03669.hp2
HG04115.hp2
NA18747.hp2
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18954.hp1
NA18959.hp2
NA18964.hp2
NA18965.hp1
NA18968.hp1
NA18970.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18998.hp2
NA19000.hp1
NA19001.hp1
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp2
NA19063.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.933-1984T>C
c.933-1984T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13115522
chr20:13115522 T
T
 G
G
 99 a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0143
others(96): Show 
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0143
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0004g0219
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0065g0284
a0001c0005t0003g0085
a0001c0005t0009g0079
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0027
a0002c0002t0013g0041
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0006c0016t0064g0248
a0007c0017t0013g0049
 99 HG00280.hp1
HG00642.hp2
HG00673.hp1
others(96): Show 
HG00280.hp1
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02056.hp1
HG02109.hp1
HG02135.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02293.hp2
HG02451.hp2
HG02602.hp2
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02738.hp2
HG02809.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03516.hp2
HG03831.hp2
HG04199.hp1
HG04204.hp1
HG06807.hp2
NA18747.hp1
NA18943.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp2
NA19011.hp2
NA19012.hp2
NA19060.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19077.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.933-1984T>G
c.933-1984T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13115522
chr20:13115627 G
G
 A
A
 1 a0005c0010t0037g0167
a0005c0010t0037g0167
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.933-1879G>A
c.933-1879G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13115627
chr20:13115649 T
T
 G
G
 12 a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
others(9): Show 
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0222
a0001c0001t0004g0288
a0001c0003t0060g0267
a0001c0004t0003g0094
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0009g0151
a0001c0005t0016g0147
a0005c0010t0037g0167
 12 HG01884.hp1
HG02280.hp2
HG02615.hp1
others(9): Show 
HG01884.hp1
HG02280.hp2
HG02615.hp1
HG02630.hp1
HG02723.hp2
HG02809.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG03130.hp2
HG03516.hp1
 intron_variant MODIFIER c.933-1857T>G
c.933-1857T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13115649
chr20:13115692 T
T
 C
C
 1 a0001c0001t0004g0225
a0001c0001t0004g0225
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.933-1814T>C
c.933-1814T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13115692
chr20:13116142 ACACCCGT
others(17): Show 
ACACCCGTTGGTCTGGGTGACTGTG
 A
A
 1 a0005c0010t0037g0167
a0005c0010t0037g0167
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.933-1360_933-1337d
others(26): Show 
c.933-1360_933-1337delCCGTTGGTCTGGGTGACTGTGCAC
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 INFO_REALIGN_3_PRIME chr20 13116142
chr20:13116148 G
G
 A
A
 1 a0001c0001t0038g0189
a0001c0001t0038g0189
 1 NA19066.hp2
NA19066.hp2
 intron_variant MODIFIER c.933-1358G>A
c.933-1358G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13116148
chr20:13116163 T
T
 A
A
 19 a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
others(16): Show 
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0003t0011g0082
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0005t0001g0080
a0001c0009t0011g0161
a0002c0002t0008g0047
 19 HG01884.hp2
HG01891.hp1
HG01891.hp2
others(16): Show 
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp2
HG02486.hp1
HG02486.hp2
HG02723.hp1
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03654.hp2
HG03669.hp1
HG04115.hp1
HG04199.hp2
NA18522.hp1
NA19240.hp2
NA20805.hp1
 intron_variant MODIFIER c.933-1343T>A
c.933-1343T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13116163
chr20:13116167 C
C
 A
A
 1 a0005c0010t0037g0167
a0005c0010t0037g0167
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.933-1339C>A
c.933-1339C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13116167
chr20:13116203 T
T
 C
C
 112 a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0143
others(109): Show 
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0143
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0003g0157
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0063g0232
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0003t0060g0267
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0065g0284
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0027
a0002c0002t0013g0041
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0006c0016t0064g0248
a0007c0017t0013g0049
 112 HG00280.hp1
HG00642.hp2
HG00673.hp1
others(109): Show 
HG00280.hp1
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02056.hp1
HG02109.hp1
HG02135.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03516.hp1
HG03516.hp2
HG03831.hp2
HG04199.hp1
HG04204.hp1
HG06807.hp2
NA18747.hp1
NA18943.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp2
NA19011.hp2
NA19012.hp2
NA19043.hp2
NA19060.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19077.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.933-1303T>C
c.933-1303T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13116203
chr20:13116270 G
G
 A
A
 1 a0003c0007t0006g0066
a0003c0007t0006g0066
 1 HG02293.hp2
HG02293.hp2
 intron_variant MODIFIER c.933-1236G>A
c.933-1236G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13116270
chr20:13116301 C
C
 A
A
 2 a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0027g0263
a0001c0001t0027g0268
 2 HG02630.hp2
HG03041.hp2
HG02630.hp2
HG03041.hp2
 intron_variant MODIFIER c.933-1205C>A
c.933-1205C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13116301
chr20:13116418 G
G
 A
A
 7 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0292
others(4): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0292
a0001c0001t0004g0226
a0001c0001t0004g0291
a0001c0001t0019g0053
a0002c0002t0001g0212
 7 HG02257.hp1
HG02922.hp1
HG02965.hp1
others(4): Show 
HG02257.hp1
HG02922.hp1
HG02965.hp1
HG03130.hp1
HG03139.hp2
HG03209.hp1
HG03516.hp2
 intron_variant MODIFIER c.933-1088G>A
c.933-1088G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13116418
chr20:13116643 C
C
 A
A
 1 a0001c0001t0059g0290
a0001c0001t0059g0290
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.933-863C>A
c.933-863C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13116643
chr20:13116664 G
G
 A
A
 99 a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0143
others(96): Show 
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0143
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0004g0219
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0065g0284
a0001c0005t0003g0085
a0001c0005t0009g0079
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0027
a0002c0002t0013g0041
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0006c0016t0064g0248
a0007c0017t0013g0049
 99 HG00280.hp1
HG00642.hp2
HG00673.hp1
others(96): Show 
HG00280.hp1
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02056.hp1
HG02109.hp1
HG02135.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02293.hp2
HG02451.hp2
HG02602.hp2
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02738.hp2
HG02809.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03516.hp2
HG03831.hp2
HG04199.hp1
HG04204.hp1
HG06807.hp2
NA18747.hp1
NA18943.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp2
NA19011.hp2
NA19012.hp2
NA19060.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19077.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.933-842G>A
c.933-842G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13116664
chr20:13116746 A
A
 G
G
 192 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(189): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0135
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0065g0284
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0008
a0002c0002t0002g0027
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0004
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0006c0016t0064g0248
a0007c0017t0013g0049
 192 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(189): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19077.hp1
NA19086.hp2
NA19089.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.933-760A>G
c.933-760A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13116746
chr20:13116754 C
C
 T
T
 1 a0002c0002t0008g0047
a0002c0002t0008g0047
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.933-752C>T
c.933-752C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13116754
chr20:13116822 G
G
 A
A
 8 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
others(5): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0292
a0001c0001t0004g0226
a0001c0001t0004g0291
a0001c0001t0019g0053
a0002c0002t0001g0212
 8 HG02257.hp1
HG02896.hp2
HG02922.hp1
others(5): Show 
HG02257.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03130.hp1
HG03139.hp2
HG03209.hp1
HG03516.hp2
 intron_variant MODIFIER c.933-684G>A
c.933-684G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13116822
chr20:13116917 GC
GC
 G
G
 82 a0001c0001t0001g0143
a0001c0001t0001g0159
a0001c0001t0001g0210
others(79): Show 
a0001c0001t0001g0143
a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0005g0092
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0019g0160
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0046g0071
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0065g0284
a0001c0005t0003g0085
a0001c0005t0009g0079
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0002g0027
a0002c0002t0013g0041
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0006c0016t0064g0248
a0007c0017t0013g0049
 82 HG00642.hp2
HG00673.hp1
HG01069.hp1
others(79): Show 
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01243.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02056.hp1
HG02109.hp1
HG02135.hp2
HG02155.hp1
HG02257.hp2
HG02293.hp2
HG02451.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp2
HG02738.hp2
HG02809.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp2
HG03017.hp1
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03831.hp2
HG04199.hp1
HG04204.hp1
HG06807.hp2
NA18747.hp1
NA18943.hp1
NA18948.hp1
NA18949.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp2
NA19011.hp2
NA19012.hp2
NA19060.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19077.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.933-586delC
c.933-586delC
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 INFO_REALIGN_3_PRIME chr20 13116917
chr20:13116919 C
C
 T
T
 82 a0001c0001t0001g0143
a0001c0001t0001g0159
a0001c0001t0001g0210
others(79): Show 
a0001c0001t0001g0143
a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0005g0092
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0019g0160
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0046g0071
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0065g0284
a0001c0005t0003g0085
a0001c0005t0009g0079
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0002g0027
a0002c0002t0013g0041
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0006c0016t0064g0248
a0007c0017t0013g0049
 82 HG00642.hp2
HG00673.hp1
HG01069.hp1
others(79): Show 
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01243.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02056.hp1
HG02109.hp1
HG02135.hp2
HG02155.hp1
HG02257.hp2
HG02293.hp2
HG02451.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp2
HG02738.hp2
HG02809.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp2
HG03017.hp1
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03831.hp2
HG04199.hp1
HG04204.hp1
HG06807.hp2
NA18747.hp1
NA18943.hp1
NA18948.hp1
NA18949.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp2
NA19011.hp2
NA19012.hp2
NA19060.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19077.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.933-587C>T
c.933-587C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13116919
chr20:13117052 T
T
 C
C
 1 a0002c0002t0034g0024
a0002c0002t0034g0024
 1 NA19062.hp1
NA19062.hp1
 intron_variant MODIFIER c.933-454T>C
c.933-454T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13117052
chr20:13117067 A
A
 G
G
 2 a0001c0001t0044g0073
a0001c0001t0061g0274
a0001c0001t0044g0073
a0001c0001t0061g0274
 2 HG00741.hp2
NA20805.hp2
HG00741.hp2
NA20805.hp2
 intron_variant MODIFIER c.933-439A>G
c.933-439A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13117067
chr20:13117168 C
C
 A
A
 5 a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
others(2): Show 
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0002c0002t0008g0006
a0002c0002t0008g0047
 5 HG03654.hp2
HG03669.hp1
HG04115.hp1
others(2): Show 
HG03654.hp2
HG03669.hp1
HG04115.hp1
HG04199.hp2
HG04228.hp1
 intron_variant MODIFIER c.933-338C>A
c.933-338C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13117168
chr20:13117354 T
T
 G
G
 15 a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0149
others(12): Show 
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0292
a0001c0001t0004g0226
a0001c0001t0004g0291
a0001c0001t0009g0111
a0001c0001t0019g0053
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0054g0286
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0031g0001
 15 HG00280.hp1
HG01168.hp1
HG01192.hp1
others(12): Show 
HG00280.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp2
HG01346.hp1
HG02257.hp1
HG02258.hp2
HG02922.hp1
HG02965.hp1
HG03130.hp1
HG03139.hp2
HG03209.hp1
HG03516.hp2
NA18945.hp2
NA18948.hp2
 intron_variant MODIFIER c.933-152T>G
c.933-152T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13117354
chr20:13117406 G
G
 A
A
 13 a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
others(10): Show 
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0222
a0001c0001t0004g0288
a0001c0003t0060g0267
a0001c0004t0003g0094
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0005g0069
a0001c0005t0009g0151
a0001c0005t0016g0147
a0005c0010t0037g0167
 13 HG01884.hp1
HG02280.hp2
HG02615.hp1
others(10): Show 
HG01884.hp1
HG02280.hp2
HG02615.hp1
HG02630.hp1
HG02723.hp2
HG02809.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG03130.hp2
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.933-100G>A
c.933-100G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13117406
chr20:13117488 T
T
 C
C
 1 a0001c0004t0009g0207
a0001c0004t0009g0207
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.933-18T>C
c.933-18T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 7/11 chr20 13117488
chr20:13117744 G
G
 C
C
 1 a0007c0017t0013g0049
a0007c0017t0013g0049
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.1152+19G>C
c.1152+19G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13117744
chr20:13117815 A
A
 G
G
 1 a0001c0005t0047g0068
a0001c0005t0047g0068
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.1152+90A>G
c.1152+90A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13117815
chr20:13117995 G
G
 A
A
 5 a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
others(2): Show 
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0002c0002t0008g0006
a0002c0002t0008g0047
 5 HG03654.hp2
HG03669.hp1
HG04115.hp1
others(2): Show 
HG03654.hp2
HG03669.hp1
HG04115.hp1
HG04199.hp2
HG04228.hp1
 intron_variant MODIFIER c.1152+270G>A
c.1152+270G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13117995
chr20:13118018 T
T
 C
C
 11 a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
others(8): Show 
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0222
a0001c0001t0004g0288
a0001c0003t0060g0267
a0001c0004t0003g0094
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0016g0147
a0005c0010t0037g0167
 11 HG01884.hp1
HG02280.hp2
HG02615.hp1
others(8): Show 
HG01884.hp1
HG02280.hp2
HG02615.hp1
HG02630.hp1
HG02809.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG03130.hp2
HG03516.hp1
 intron_variant MODIFIER c.1152+293T>C
c.1152+293T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13118018
chr20:13118101 T
T
 C
C
 3 a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0067
a0001c0001t0002g0021
a0001c0001t0002g0055
a0001c0001t0002g0067
 3 NA18990.hp1
NA19063.hp1
NA19077.hp2
NA18990.hp1
NA19063.hp1
NA19077.hp2
 intron_variant MODIFIER c.1152+376T>C
c.1152+376T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13118101
chr20:13118111 G
G
 A
A
 1 a0001c0001t0004g0225
a0001c0001t0004g0225
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.1152+386G>A
c.1152+386G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13118111
chr20:13118124 A
A
 G
G
 3 a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0029
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0029
 3 NA18951.hp1
NA18977.hp1
NA19089.hp1
NA18951.hp1
NA18977.hp1
NA19089.hp1
 intron_variant MODIFIER c.1152+399A>G
c.1152+399A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13118124
chr20:13118274 G
G
 A
A
 1 a0002c0002t0008g0017
a0002c0002t0008g0017
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.1152+549G>A
c.1152+549G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13118274
chr20:13118392 C
C
 T
T
 2 a0001c0001t0001g0188
a0001c0001t0008g0005
a0001c0001t0001g0188
a0001c0001t0008g0005
 2 HG02074.hp2
NA19004.hp1
HG02074.hp2
NA19004.hp1
 intron_variant MODIFIER c.1152+667C>T
c.1152+667C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13118392
chr20:13118394 G
G
 A
A
 1 a0001c0001t0059g0290
a0001c0001t0059g0290
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.1152+669G>A
c.1152+669G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13118394
chr20:13118422 A
A
 G
G
 1 a0001c0005t0016g0147
a0001c0005t0016g0147
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1152+697A>G
c.1152+697A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13118422
chr20:13118448 G
G
 GA
GA
 11 a0001c0001t0004g0225
a0001c0001t0014g0116
a0001c0001t0027g0263
others(8): Show 
a0001c0001t0004g0225
a0001c0001t0014g0116
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0051g0075
a0001c0001t0057g0281
a0001c0003t0010g0236
a0001c0003t0010g0289
a0001c0004t0017g0105
a0001c0005t0004g0244
a0003c0007t0006g0010
 11 HG00323.hp1
HG01167.hp1
HG02015.hp2
others(8): Show 
HG00323.hp1
HG01167.hp1
HG02015.hp2
HG02630.hp2
HG03041.hp1
HG03041.hp2
HG03654.hp1
NA18959.hp1
NA20129.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1152+723_1152+724i
others(3): Show 
c.1152+723_1152+724insA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13118448
chr20:13118448 G
G
 GAA
GAA
 85 a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0103
others(82): Show 
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0115
a0001c0001t0001g0118
a0001c0001t0001g0127
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0003g0126
a0001c0001t0003g0179
a0001c0001t0004g0219
a0001c0001t0004g0226
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0291
a0001c0001t0014g0074
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0050g0101
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0004t0009g0139
a0001c0004t0009g0207
a0001c0004t0014g0137
a0001c0005t0001g0089
a0001c0005t0009g0079
a0001c0005t0025g0097
a0001c0009t0005g0186
a0001c0009t0005g0204
a0002c0002t0001g0102
a0002c0002t0001g0212
a0002c0002t0002g0008
a0002c0002t0002g0027
a0002c0002t0004g0254
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0004
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0021g0065
a0002c0006t0005g0086
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
 85 HG00140.hp2
HG00280.hp2
HG00423.hp2
others(82): Show 
HG00140.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00609.hp1
HG00639.hp2
HG00673.hp1
HG00735.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02056.hp1
HG02080.hp2
HG02132.hp1
HG02135.hp2
HG02257.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02602.hp1
HG02622.hp2
HG02647.hp2
HG02809.hp2
HG02922.hp1
HG02965.hp1
HG03130.hp1
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp2
HG03491.hp1
HG03516.hp2
HG03669.hp2
HG03831.hp2
HG04199.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18944.hp2
NA18948.hp1
NA18949.hp2
NA18956.hp2
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp2
NA18967.hp1
NA18968.hp1
NA18971.hp1
NA18973.hp1
NA18986.hp1
NA18988.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19068.hp1
NA19077.hp1
NA19089.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.1152+723_1152+724i
others(4): Show 
c.1152+723_1152+724insAA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13118448
chr20:13118448 G
G
 GAAA
GAAA
 71 a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
others(68): Show 
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0003g0112
a0001c0001t0003g0135
a0001c0001t0004g0229
a0001c0001t0004g0273
a0001c0001t0005g0092
a0001c0001t0008g0005
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0046g0071
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0122
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0009g0170
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0065g0284
a0001c0005t0003g0085
a0001c0005t0009g0151
a0001c0005t0025g0088
a0001c0014t0005g0083
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0008g0012
a0002c0002t0008g0044
a0002c0002t0013g0041
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0006t0005g0171
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0006c0016t0064g0248
 71 HG00280.hp1
HG00408.hp1
HG00609.hp2
others(68): Show 
HG00280.hp1
HG00408.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00741.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01975.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02602.hp2
HG02723.hp2
HG02738.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp2
HG03017.hp1
HG03017.hp2
HG03239.hp1
HG04115.hp2
NA18945.hp2
NA18946.hp2
NA18948.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18961.hp2
NA18965.hp1
NA18968.hp2
NA18970.hp1
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp1
NA18998.hp1
NA19000.hp1
NA19004.hp1
NA19010.hp1
NA19043.hp2
NA19066.hp2
NA19070.hp2
NA19091.hp1
NA20300.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1152+723_1152+724i
others(5): Show 
c.1152+723_1152+724insAAA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13118448
chr20:13118448 G
G
 GAAAA
GAAAA
 7 a0001c0001t0001g0093
a0001c0001t0004g0266
a0001c0001t0008g0013
others(4): Show 
a0001c0001t0001g0093
a0001c0001t0004g0266
a0001c0001t0008g0013
a0001c0001t0033g0045
a0001c0004t0009g0208
a0001c0005t0030g0285
a0007c0017t0013g0049
 7 HG00621.hp2
HG01346.hp2
HG02738.hp1
others(4): Show 
HG00621.hp2
HG01346.hp2
HG02738.hp1
HG03195.hp2
HG04204.hp1
NA18977.hp2
NA19086.hp2
 intron_variant MODIFIER c.1152+723_1152+724i
others(6): Show 
c.1152+723_1152+724insAAAA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13118448
chr20:13118448 GGA
GGA
 G
G
 3 a0001c0004t0003g0094
a0001c0005t0016g0147
a0005c0010t0037g0167
a0001c0004t0003g0094
a0001c0005t0016g0147
a0005c0010t0037g0167
 3 HG01884.hp1
HG02280.hp2
HG03516.hp1
HG01884.hp1
HG02280.hp2
HG03516.hp1
 intron_variant MODIFIER c.1152+724_1152+725d
others(4): Show 
c.1152+724_1152+725delGA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13118448
chr20:13118448 GGAA
GGAA
 G
G
 8 a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
others(5): Show 
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0222
a0001c0001t0004g0288
a0001c0003t0060g0267
a0001c0005t0004g0227
a0001c0005t0004g0235
 8 HG02615.hp1
HG02630.hp1
HG02809.hp1
others(5): Show 
HG02615.hp1
HG02630.hp1
HG02809.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG03130.hp2
 intron_variant MODIFIER c.1152+724_1152+726d
others(5): Show 
c.1152+724_1152+726delGAA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13118448
chr20:13118449 G
G
 A
A
 175 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(172): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0135
a0001c0001t0003g0179
a0001c0001t0004g0219
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0065g0284
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0244
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0008
a0002c0002t0002g0027
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0004
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0006c0016t0064g0248
a0007c0017t0013g0049
 175 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(172): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03491.hp1
HG03516.hp2
HG03654.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19077.hp1
NA19086.hp2
NA19089.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1152+724G>A
c.1152+724G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13118449
chr20:13118449 G
G
 GA
GA
 6 a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
others(3): Show 
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0012g0258
a0001c0003t0058g0257
a0001c0005t0047g0068
 6 HG01106.hp2
HG02280.hp1
HG02615.hp2
others(3): Show 
HG01106.hp2
HG02280.hp1
HG02615.hp2
HG03195.hp1
HG03540.hp2
NA19030.hp2
 intron_variant MODIFIER c.1152+734dupA
c.1152+734dupA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 INFO_REALIGN_3_PRIME chr20 13118449
chr20:13118450 A
A
 G
G
 4 a0001c0003t0029g0275
a0001c0003t0029g0283
a0002c0002t0008g0006
others(1): Show 
a0001c0003t0029g0275
a0001c0003t0029g0283
a0002c0002t0008g0006
a0002c0002t0008g0047
 4 HG03654.hp2
HG03669.hp1
HG04115.hp1
others(1): Show 
HG03654.hp2
HG03669.hp1
HG04115.hp1
HG04228.hp1
 intron_variant MODIFIER c.1152+725A>G
c.1152+725A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13118450
chr20:13118460 C
C
 A
A
 186 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(183): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0135
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0065g0284
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0008
a0002c0002t0002g0027
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0004
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0006c0016t0064g0248
a0007c0017t0013g0049
 186 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(183): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03654.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19077.hp1
NA19086.hp2
NA19089.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1152+735C>A
c.1152+735C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13118460
chr20:13118470 C
C
 A
A
 1 a0001c0001t0046g0071
a0001c0001t0046g0071
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.1152+745C>A
c.1152+745C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13118470
chr20:13118604 C
C
 T
T
 2 a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0027g0263
a0001c0001t0027g0268
 2 HG02630.hp2
HG03041.hp2
HG02630.hp2
HG03041.hp2
 intron_variant MODIFIER c.1152+879C>T
c.1152+879C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13118604
chr20:13118644 A
A
 G
G
 186 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(183): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0135
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0065g0284
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0008
a0002c0002t0002g0027
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0004
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0006c0016t0064g0248
a0007c0017t0013g0049
 186 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(183): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03654.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19077.hp1
NA19086.hp2
NA19089.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1152+919A>G
c.1152+919A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13118644
chr20:13119077 C
C
 T
T
 113 a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0143
others(110): Show 
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0143
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0003g0157
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0003t0060g0267
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0065g0284
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0027
a0002c0002t0013g0041
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0006c0016t0064g0248
a0007c0017t0013g0049
 113 HG00280.hp1
HG00642.hp2
HG00673.hp1
others(110): Show 
HG00280.hp1
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02056.hp1
HG02109.hp1
HG02135.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03516.hp1
HG03516.hp2
HG03831.hp2
HG04199.hp1
HG04204.hp1
HG06807.hp2
NA18747.hp1
NA18943.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp2
NA19060.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19077.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1152+1352C>T
c.1152+1352C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13119077
chr20:13119081 T
T
 C
C
 113 a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0143
others(110): Show 
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0143
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0003g0157
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0003t0060g0267
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0065g0284
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0027
a0002c0002t0013g0041
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0006c0016t0064g0248
a0007c0017t0013g0049
 113 HG00280.hp1
HG00642.hp2
HG00673.hp1
others(110): Show 
HG00280.hp1
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02056.hp1
HG02109.hp1
HG02135.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03516.hp1
HG03516.hp2
HG03831.hp2
HG04199.hp1
HG04204.hp1
HG06807.hp2
NA18747.hp1
NA18943.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp2
NA19060.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19077.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1152+1356T>C
c.1152+1356T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13119081
chr20:13119138 C
C
 T
T
 1 a0001c0001t0007g0216
a0001c0001t0007g0216
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.1152+1413C>T
c.1152+1413C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13119138
chr20:13119153 T
T
 G
G
 2 a0001c0003t0011g0082
a0001c0009t0011g0161
a0001c0003t0011g0082
a0001c0009t0011g0161
 2 HG02486.hp2
NA18522.hp1
HG02486.hp2
NA18522.hp1
 intron_variant MODIFIER c.1152+1428T>G
c.1152+1428T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13119153
chr20:13119155 T
T
 A
A
 72 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(69): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0118
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0135
a0001c0001t0003g0179
a0001c0001t0004g0225
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0033g0045
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0055g0287
a0001c0001t0057g0281
a0001c0003t0041g0107
a0001c0004t0001g0169
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0005t0001g0089
a0001c0005t0004g0244
a0002c0002t0001g0190
a0002c0002t0002g0008
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0004
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0021g0065
a0002c0002t0036g0061
a0003c0007t0006g0010
 72 HG00140.hp2
HG00280.hp2
HG00323.hp1
others(69): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00673.hp2
HG00735.hp1
HG01069.hp2
HG01123.hp1
HG01167.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01515.hp2
HG01975.hp1
HG02015.hp2
HG02056.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02132.hp1
HG02155.hp2
HG02258.hp1
HG02293.hp1
HG02602.hp1
HG02738.hp1
HG03017.hp2
HG03041.hp1
HG03239.hp2
HG03491.hp1
HG03654.hp1
HG03669.hp2
HG04115.hp2
NA18747.hp2
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18954.hp1
NA18959.hp2
NA18964.hp2
NA18965.hp1
NA18968.hp1
NA18970.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18998.hp2
NA19000.hp1
NA19001.hp1
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp2
NA19063.hp2
NA19086.hp2
NA19089.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA21309.hp1
 intron_variant MODIFIER c.1152+1430T>A
c.1152+1430T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13119155
chr20:13119301 C
C
 T
T
 15 a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
others(12): Show 
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0003t0011g0082
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0005t0001g0080
a0001c0009t0011g0161
 15 HG01884.hp2
HG01891.hp1
HG01891.hp2
others(12): Show 
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp2
HG02486.hp1
HG02486.hp2
HG02723.hp1
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG03540.hp1
NA18522.hp1
NA19240.hp2
NA20805.hp1
 intron_variant MODIFIER c.1152+1576C>T
c.1152+1576C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13119301
chr20:13119519 G
G
 T
T
 6 a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
others(3): Show 
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0012g0258
a0001c0003t0058g0257
a0001c0005t0047g0068
 6 HG01106.hp2
HG02280.hp1
HG02615.hp2
others(3): Show 
HG01106.hp2
HG02280.hp1
HG02615.hp2
HG03195.hp1
HG03540.hp2
NA19030.hp2
 intron_variant MODIFIER c.1152+1794G>T
c.1152+1794G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13119519
chr20:13119547 T
T
 C
C
 3 a0001c0001t0002g0015
a0001c0001t0002g0057
a0008c0015t0002g0050
a0001c0001t0002g0015
a0001c0001t0002g0057
a0008c0015t0002g0050
 3 NA18946.hp1
NA18949.hp1
NA19091.hp2
NA18946.hp1
NA18949.hp1
NA19091.hp2
 intron_variant MODIFIER c.1152+1822T>C
c.1152+1822T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13119547
chr20:13119637 C
C
 T
T
 1 a0001c0005t0016g0147
a0001c0005t0016g0147
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1152+1912C>T
c.1152+1912C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13119637
chr20:13119649 C
C
 T
T
 1 a0002c0002t0021g0065
a0002c0002t0021g0065
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.1152+1924C>T
c.1152+1924C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13119649
chr20:13119678 T
T
 C
C
 217 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(214): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0135
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0008
a0002c0002t0002g0027
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
 217 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(214): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19077.hp1
NA19086.hp2
NA19089.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1152+1953T>C
c.1152+1953T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13119678
chr20:13119798 G
G
 A
A
 96 a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0143
others(93): Show 
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0005g0092
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0040g0206
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0003g0085
a0001c0005t0009g0079
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0199
a0002c0002t0002g0027
a0002c0002t0013g0041
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0006c0016t0064g0248
a0007c0017t0013g0049
 96 HG00280.hp1
HG00642.hp2
HG00673.hp1
others(93): Show 
HG00280.hp1
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01891.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02056.hp1
HG02109.hp1
HG02132.hp2
HG02135.hp2
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02293.hp2
HG02451.hp2
HG02602.hp2
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02738.hp2
HG02809.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG03017.hp1
HG03041.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03516.hp2
HG03831.hp2
HG04199.hp1
HG04204.hp1
HG06807.hp2
NA18747.hp1
NA18943.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18985.hp1
NA18988.hp2
NA19000.hp2
NA19001.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp2
NA19060.hp2
NA19066.hp2
NA19068.hp1
NA19077.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1152+2073G>A
c.1152+2073G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13119798
chr20:13119807 C
C
 T
T
 10 a0001c0001t0005g0128
a0001c0001t0010g0215
a0001c0001t0015g0218
others(7): Show 
a0001c0001t0005g0128
a0001c0001t0010g0215
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0005t0010g0231
a0001c0005t0048g0164
a0001c0012t0023g0165
a0005c0011t0023g0166
 10 HG01243.hp1
HG01255.hp1
HG02055.hp2
others(7): Show 
HG01243.hp1
HG01255.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp1
HG02622.hp1
HG02895.hp2
HG03139.hp1
HG03471.hp1
NA18522.hp2
 intron_variant MODIFIER c.1152+2082C>T
c.1152+2082C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13119807
chr20:13119982 C
C
 T
T
 112 a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0143
others(109): Show 
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0003g0157
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0288
a0001c0001t0005g0092
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0040g0206
a0001c0004t0065g0284
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0016g0147
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0199
a0002c0002t0002g0027
a0002c0002t0013g0041
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0006c0016t0064g0248
a0007c0017t0013g0049
 112 HG00280.hp1
HG00642.hp2
HG00673.hp1
others(109): Show 
HG00280.hp1
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02056.hp1
HG02109.hp1
HG02132.hp2
HG02135.hp2
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03831.hp2
HG04199.hp1
HG04204.hp1
HG06807.hp2
NA18747.hp1
NA18943.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18985.hp1
NA18988.hp2
NA19000.hp2
NA19001.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19060.hp2
NA19066.hp2
NA19068.hp1
NA19077.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1152+2257C>T
c.1152+2257C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13119982
chr20:13120259 A
A
 G
G
 1 a0001c0001t0001g0093
a0001c0001t0001g0093
 1 HG00621.hp2
HG00621.hp2
 intron_variant MODIFIER c.1152+2534A>G
c.1152+2534A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13120259
chr20:13120265 CT
CT
 C
C
 6 a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
others(3): Show 
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0012g0258
a0001c0003t0058g0257
a0001c0005t0047g0068
 6 HG01106.hp2
HG02280.hp1
HG02615.hp2
others(3): Show 
HG01106.hp2
HG02280.hp1
HG02615.hp2
HG03195.hp1
HG03540.hp2
NA19030.hp2
 intron_variant MODIFIER c.1152+2541delT
c.1152+2541delT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13120265
chr20:13120700 T
T
 A
A
 1 a0001c0005t0047g0068
a0001c0005t0047g0068
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.1152+2975T>A
c.1152+2975T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13120700
chr20:13120805 C
C
 T
T
 1 a0001c0001t0063g0232
a0001c0001t0063g0232
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.1152+3080C>T
c.1152+3080C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13120805
chr20:13120926 A
A
 G
G
 7 a0001c0001t0063g0232
a0001c0003t0011g0152
a0001c0003t0011g0153
others(4): Show 
a0001c0001t0063g0232
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0012g0258
a0001c0003t0058g0257
a0001c0005t0047g0068
 7 HG01106.hp2
HG02280.hp1
HG02615.hp2
others(4): Show 
HG01106.hp2
HG02280.hp1
HG02615.hp2
HG03195.hp1
HG03540.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.1152+3201A>G
c.1152+3201A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13120926
chr20:13121160 G
G
 A
A
 1 a0001c0003t0012g0262
a0001c0003t0012g0262
 1 HG01109.hp2
HG01109.hp2
 intron_variant MODIFIER c.1152+3435G>A
c.1152+3435G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13121160
chr20:13121169 C
C
 T
T
 1 a0001c0005t0047g0068
a0001c0005t0047g0068
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.1152+3444C>T
c.1152+3444C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13121169
chr20:13121227 G
G
 A
A
 3 a0001c0001t0027g0263
a0001c0001t0027g0268
a0005c0010t0037g0167
a0001c0001t0027g0263
a0001c0001t0027g0268
a0005c0010t0037g0167
 3 HG01884.hp1
HG02630.hp2
HG03041.hp2
HG01884.hp1
HG02630.hp2
HG03041.hp2
 intron_variant MODIFIER c.1152+3502G>A
c.1152+3502G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13121227
chr20:13121345 C
C
 G
G
 2 a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0027g0263
a0001c0001t0027g0268
 2 HG02630.hp2
HG03041.hp2
HG02630.hp2
HG03041.hp2
 intron_variant MODIFIER c.1152+3620C>G
c.1152+3620C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13121345
chr20:13121379 A
A
 G
G
 236 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(233): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0003g0070
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0008
a0002c0002t0002g0027
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
 236 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(233): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00609.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19077.hp1
NA19086.hp2
NA19089.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1152+3654A>G
c.1152+3654A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13121379
chr20:13121571 C
C
 T
T
 5 a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
others(2): Show 
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0002c0002t0008g0006
a0002c0002t0008g0047
 5 HG03654.hp2
HG03669.hp1
HG04115.hp1
others(2): Show 
HG03654.hp2
HG03669.hp1
HG04115.hp1
HG04199.hp2
HG04228.hp1
 intron_variant MODIFIER c.1152+3846C>T
c.1152+3846C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13121571
chr20:13121590 C
C
 T
T
 116 a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0143
others(113): Show 
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0030g0261
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0056g0253
a0001c0001t0059g0290
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0003g0085
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0199
a0002c0002t0002g0027
a0002c0002t0013g0041
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
 116 HG00280.hp1
HG00642.hp2
HG00673.hp1
others(113): Show 
HG00280.hp1
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02109.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02738.hp2
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG03017.hp1
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03516.hp2
HG03831.hp2
HG04199.hp1
HG04204.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18943.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19060.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19077.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1152+3865C>T
c.1152+3865C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13121590
chr20:13121653 C
C
 T
T
 1 a0004c0008t0006g0033
a0004c0008t0006g0033
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.1152+3928C>T
c.1152+3928C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13121653
chr20:13121655 C
C
 T
T
 1 a0001c0001t0033g0045
a0001c0001t0033g0045
 1 NA19086.hp2
NA19086.hp2
 intron_variant MODIFIER c.1152+3930C>T
c.1152+3930C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13121655
chr20:13121688 T
T
 C
C
 224 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(221): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0003g0070
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0135
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0004g0219
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0244
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0008
a0002c0002t0002g0027
a0002c0002t0002g0051
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
 224 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(221): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19077.hp1
NA19086.hp2
NA19089.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1152+3963T>C
c.1152+3963T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13121688
chr20:13121756 A
A
 C
C
 235 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(232): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0003g0070
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0135
a0001c0001t0003g0157
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0008
a0002c0002t0002g0027
a0002c0002t0002g0051
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
 235 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(232): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19077.hp1
NA19086.hp2
NA19089.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1152+4031A>C
c.1152+4031A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13121756
chr20:13121846 T
T
 A
A
 69 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(66): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0118
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0135
a0001c0001t0004g0225
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0019g0119
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0044g0073
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0061g0274
a0001c0003t0041g0107
a0001c0004t0001g0169
a0001c0004t0014g0137
a0001c0004t0017g0105
a0001c0005t0001g0089
a0002c0002t0001g0190
a0002c0002t0002g0008
a0002c0002t0002g0051
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0004
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0021g0065
a0003c0007t0006g0010
 69 HG00140.hp2
HG00280.hp2
HG00323.hp1
others(66): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00673.hp2
HG00735.hp1
HG00741.hp2
HG01069.hp2
HG01123.hp1
HG01167.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01515.hp2
HG01975.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02132.hp1
HG02155.hp2
HG02258.hp1
HG02293.hp1
HG02602.hp1
HG02738.hp1
HG03017.hp2
HG03239.hp2
HG03491.hp1
HG03654.hp1
HG03669.hp2
HG04204.hp2
NA18944.hp2
NA18946.hp2
NA18951.hp2
NA18954.hp1
NA18959.hp2
NA18964.hp2
NA18965.hp1
NA18968.hp1
NA18970.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18985.hp2
NA18986.hp1
NA18998.hp2
NA19000.hp1
NA19001.hp1
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp2
NA19063.hp2
NA19089.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.1152+4121T>A
c.1152+4121T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13121846
chr20:13121897 T
T
 G
G
 1 a0001c0001t0001g0052
a0001c0001t0001g0052
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.1152+4172T>G
c.1152+4172T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13121897
chr20:13122030 T
T
 C
C
 97 a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0145
others(94): Show 
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0005g0092
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0019g0160
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0063g0232
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0065g0284
a0001c0005t0003g0085
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0002g0027
a0002c0002t0013g0041
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0006c0016t0064g0248
a0007c0017t0013g0049
 97 HG00280.hp1
HG00642.hp2
HG00738.hp1
others(94): Show 
HG00280.hp1
HG00642.hp2
HG00738.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01243.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02056.hp1
HG02109.hp1
HG02132.hp2
HG02135.hp2
HG02155.hp1
HG02257.hp2
HG02293.hp2
HG02451.hp2
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02723.hp2
HG02738.hp2
HG02809.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp2
HG03017.hp1
HG03041.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03831.hp2
HG04199.hp1
HG04204.hp1
HG06807.hp2
NA18747.hp1
NA18943.hp1
NA18945.hp2
NA18948.hp1
NA18949.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp2
NA19011.hp2
NA19012.hp2
NA19043.hp2
NA19060.hp2
NA19068.hp1
NA19070.hp2
NA19077.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1152+4305T>C
c.1152+4305T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13122030
chr20:13122203 A
A
 G
G
 1 a0002c0006t0006g0016
a0002c0006t0006g0016
 1 NA18971.hp1
NA18971.hp1
 intron_variant MODIFIER c.1153-4388A>G
c.1153-4388A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13122203
chr20:13122312 T
T
 C
C
 93 a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0145
others(90): Show 
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0005g0092
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0019g0160
a0001c0001t0030g0261
a0001c0001t0039g0121
a0001c0001t0046g0071
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0065g0284
a0001c0005t0003g0085
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0002g0027
a0002c0002t0013g0041
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0006c0016t0064g0248
a0007c0017t0013g0049
 93 HG00280.hp1
HG00642.hp2
HG00673.hp1
others(90): Show 
HG00280.hp1
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01243.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02056.hp1
HG02109.hp1
HG02132.hp2
HG02135.hp2
HG02155.hp1
HG02257.hp2
HG02293.hp2
HG02451.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp2
HG02723.hp2
HG02738.hp2
HG02809.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp2
HG03017.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03831.hp2
HG04199.hp1
HG04204.hp1
HG06807.hp2
NA18747.hp1
NA18943.hp1
NA18945.hp2
NA18948.hp1
NA18949.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp2
NA19011.hp2
NA19012.hp2
NA19060.hp2
NA19068.hp1
NA19070.hp2
NA19077.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1153-4279T>C
c.1153-4279T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13122312
chr20:13122442 C
C
 A
A
 93 a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0145
others(90): Show 
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0005g0092
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0019g0160
a0001c0001t0030g0261
a0001c0001t0039g0121
a0001c0001t0046g0071
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0065g0284
a0001c0005t0003g0085
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0002g0027
a0002c0002t0013g0041
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0006c0016t0064g0248
a0007c0017t0013g0049
 93 HG00280.hp1
HG00642.hp2
HG00673.hp1
others(90): Show 
HG00280.hp1
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01243.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02056.hp1
HG02109.hp1
HG02132.hp2
HG02135.hp2
HG02155.hp1
HG02257.hp2
HG02293.hp2
HG02451.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp2
HG02723.hp2
HG02738.hp2
HG02809.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp2
HG03017.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03831.hp2
HG04199.hp1
HG04204.hp1
HG06807.hp2
NA18747.hp1
NA18943.hp1
NA18945.hp2
NA18948.hp1
NA18949.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp2
NA19011.hp2
NA19012.hp2
NA19060.hp2
NA19068.hp1
NA19070.hp2
NA19077.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1153-4149C>A
c.1153-4149C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13122442
chr20:13122512 C
C
 T
T
 163 a0001c0001t0001g0052
a0001c0001t0001g0117
a0001c0001t0001g0124
others(160): Show 
a0001c0001t0001g0052
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0003g0157
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0053
a0001c0001t0019g0160
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0056g0253
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0027
a0002c0002t0008g0006
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
 163 HG00280.hp1
HG00642.hp2
HG00673.hp1
others(160): Show 
HG00280.hp1
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18943.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19077.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1153-4079C>T
c.1153-4079C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13122512
chr20:13122514 G
G
 C
C
 93 a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0145
others(90): Show 
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0005g0092
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0019g0160
a0001c0001t0030g0261
a0001c0001t0039g0121
a0001c0001t0046g0071
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0065g0284
a0001c0005t0003g0085
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0002g0027
a0002c0002t0013g0041
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0006c0016t0064g0248
a0007c0017t0013g0049
 93 HG00280.hp1
HG00642.hp2
HG00673.hp1
others(90): Show 
HG00280.hp1
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01243.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02056.hp1
HG02109.hp1
HG02132.hp2
HG02135.hp2
HG02155.hp1
HG02257.hp2
HG02293.hp2
HG02451.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp2
HG02723.hp2
HG02738.hp2
HG02809.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp2
HG03017.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03831.hp2
HG04199.hp1
HG04204.hp1
HG06807.hp2
NA18747.hp1
NA18943.hp1
NA18945.hp2
NA18948.hp1
NA18949.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp2
NA19011.hp2
NA19012.hp2
NA19060.hp2
NA19068.hp1
NA19070.hp2
NA19077.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1153-4077G>C
c.1153-4077G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13122514
chr20:13122548 C
C
 T
T
 1 a0002c0002t0035g0056
a0002c0002t0035g0056
 1 HG01168.hp2
HG01168.hp2
 intron_variant MODIFIER c.1153-4043C>T
c.1153-4043C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13122548
chr20:13122630 T
T
 C
C
 7 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0292
others(4): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0292
a0001c0001t0004g0226
a0001c0001t0004g0291
a0001c0001t0019g0053
a0002c0002t0001g0212
 7 HG02257.hp1
HG02922.hp1
HG02965.hp1
others(4): Show 
HG02257.hp1
HG02922.hp1
HG02965.hp1
HG03130.hp1
HG03139.hp2
HG03209.hp1
HG03516.hp2
 intron_variant MODIFIER c.1153-3961T>C
c.1153-3961T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13122630
chr20:13122799 T
T
 C
C
 1 a0001c0004t0003g0094
a0001c0004t0003g0094
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.1153-3792T>C
c.1153-3792T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13122799
chr20:13123002 C
C
 A
A
 1 a0002c0006t0005g0171
a0002c0006t0005g0171
 1 NA18985.hp1
NA18985.hp1
 intron_variant MODIFIER c.1153-3589C>A
c.1153-3589C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13123002
chr20:13123019 C
C
 T
T
 42 a0001c0001t0001g0124
a0001c0001t0001g0149
a0001c0001t0001g0150
others(39): Show 
a0001c0001t0001g0124
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0292
a0001c0001t0004g0226
a0001c0001t0004g0291
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0053
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0045g0163
a0001c0001t0054g0286
a0001c0001t0056g0253
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0012g0258
a0001c0003t0058g0257
a0001c0004t0042g0184
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0048g0164
a0001c0012t0023g0165
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0031g0001
a0002c0002t0062g0280
a0005c0011t0023g0166
 42 HG01106.hp2
HG01168.hp1
HG01192.hp1
others(39): Show 
HG01106.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG02055.hp2
HG02071.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02647.hp1
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG06807.hp1
NA18522.hp2
NA18948.hp2
NA18956.hp1
NA18990.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19074.hp2
 intron_variant MODIFIER c.1153-3572C>T
c.1153-3572C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13123019
chr20:13123103 G
G
 A
A
 48 a0001c0001t0001g0124
a0001c0001t0001g0149
a0001c0001t0001g0150
others(45): Show 
a0001c0001t0001g0124
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0292
a0001c0001t0004g0226
a0001c0001t0004g0291
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0053
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0045g0163
a0001c0001t0054g0286
a0001c0001t0056g0253
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0058g0257
a0001c0004t0042g0184
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0012t0023g0165
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0031g0001
a0002c0002t0062g0280
a0005c0011t0023g0166
 48 HG01106.hp2
HG01168.hp1
HG01192.hp1
others(45): Show 
HG01106.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG02055.hp2
HG02071.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG06807.hp1
NA18522.hp2
NA18948.hp2
NA18956.hp1
NA18990.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19074.hp2
NA19240.hp2
 intron_variant MODIFIER c.1153-3488G>A
c.1153-3488G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13123103
chr20:13123262 C
C
 T
T
 48 a0001c0001t0001g0124
a0001c0001t0001g0149
a0001c0001t0001g0150
others(45): Show 
a0001c0001t0001g0124
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0292
a0001c0001t0004g0226
a0001c0001t0004g0291
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0053
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0045g0163
a0001c0001t0054g0286
a0001c0001t0056g0253
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0058g0257
a0001c0004t0042g0184
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0012t0023g0165
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0031g0001
a0002c0002t0062g0280
a0005c0011t0023g0166
 48 HG01106.hp2
HG01168.hp1
HG01192.hp1
others(45): Show 
HG01106.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG02055.hp2
HG02071.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG06807.hp1
NA18522.hp2
NA18948.hp2
NA18956.hp1
NA18990.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19074.hp2
NA19240.hp2
 intron_variant MODIFIER c.1153-3329C>T
c.1153-3329C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13123262
chr20:13123270 G
G
 A
A
 6 a0001c0001t0059g0290
a0001c0003t0011g0152
a0001c0003t0011g0153
others(3): Show 
a0001c0001t0059g0290
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0012g0258
a0001c0003t0058g0257
 6 HG01106.hp2
HG02280.hp1
HG03195.hp1
others(3): Show 
HG01106.hp2
HG02280.hp1
HG03195.hp1
HG03540.hp2
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.1153-3321G>A
c.1153-3321G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13123270
chr20:13123329 T
T
 TA
TA
 29 a0001c0001t0001g0052
a0001c0001t0001g0156
a0001c0001t0001g0158
others(26): Show 
a0001c0001t0001g0052
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0222
a0001c0001t0004g0266
a0001c0001t0004g0288
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0016g0136
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0003t0011g0082
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0060g0267
a0001c0004t0003g0094
a0001c0005t0001g0080
a0001c0009t0011g0161
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0047
a0005c0010t0037g0167
 29 HG00738.hp2
HG01884.hp1
HG01884.hp2
others(26): Show 
HG00738.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03516.hp1
HG03654.hp2
HG03669.hp1
HG04115.hp1
HG04199.hp2
HG04228.hp1
NA18522.hp1
NA19060.hp1
NA20805.hp1
 intron_variant MODIFIER c.1153-3249dupA
c.1153-3249dupA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 INFO_REALIGN_3_PRIME chr20 13123329
chr20:13123329 T
T
 TAA
TAA
 42 a0001c0001t0001g0124
a0001c0001t0001g0149
a0001c0001t0001g0150
others(39): Show 
a0001c0001t0001g0124
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0292
a0001c0001t0004g0226
a0001c0001t0004g0291
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0053
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0045g0163
a0001c0001t0054g0286
a0001c0001t0056g0253
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0012g0258
a0001c0003t0058g0257
a0001c0004t0042g0184
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0048g0164
a0001c0012t0023g0165
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0031g0001
a0002c0002t0062g0280
a0005c0011t0023g0166
 42 HG01106.hp2
HG01168.hp1
HG01192.hp1
others(39): Show 
HG01106.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG02055.hp2
HG02071.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02647.hp1
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG06807.hp1
NA18522.hp2
NA18948.hp2
NA18956.hp1
NA18990.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19074.hp2
 intron_variant MODIFIER c.1153-3250_1153-324
others(6): Show 
c.1153-3250_1153-3249dupAA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 INFO_REALIGN_3_PRIME chr20 13123329
chr20:13123329 T
T
 TAAA
TAAA
 6 a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
others(3): Show 
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0005t0047g0068
 6 HG02615.hp2
HG03209.hp2
HG03471.hp2
others(3): Show 
HG02615.hp2
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.1153-3251_1153-324
others(7): Show 
c.1153-3251_1153-3249dupAAA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 INFO_REALIGN_3_PRIME chr20 13123329
chr20:13123387 T
T
 C
C
 48 a0001c0001t0001g0124
a0001c0001t0001g0149
a0001c0001t0001g0150
others(45): Show 
a0001c0001t0001g0124
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0292
a0001c0001t0004g0226
a0001c0001t0004g0291
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0053
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0045g0163
a0001c0001t0054g0286
a0001c0001t0056g0253
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0058g0257
a0001c0004t0042g0184
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0012t0023g0165
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0031g0001
a0002c0002t0062g0280
a0005c0011t0023g0166
 48 HG01106.hp2
HG01168.hp1
HG01192.hp1
others(45): Show 
HG01106.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG02055.hp2
HG02071.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG06807.hp1
NA18522.hp2
NA18948.hp2
NA18956.hp1
NA18990.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19074.hp2
NA19240.hp2
 intron_variant MODIFIER c.1153-3204T>C
c.1153-3204T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13123387
chr20:13123418 C
C
 A
A
 5 a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
others(2): Show 
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0002c0002t0008g0006
a0002c0002t0008g0047
 5 HG03654.hp2
HG03669.hp1
HG04115.hp1
others(2): Show 
HG03654.hp2
HG03669.hp1
HG04115.hp1
HG04199.hp2
HG04228.hp1
 intron_variant MODIFIER c.1153-3173C>A
c.1153-3173C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13123418
chr20:13123493 A
A
 T
T
 26 a0001c0001t0001g0052
a0001c0001t0001g0156
a0001c0001t0001g0158
others(23): Show 
a0001c0001t0001g0052
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0003g0157
a0001c0001t0004g0222
a0001c0001t0004g0288
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0003t0011g0082
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0060g0267
a0001c0004t0003g0094
a0001c0005t0001g0080
a0001c0009t0011g0161
a0002c0002t0008g0006
a0002c0002t0008g0047
a0005c0010t0037g0167
 26 HG01884.hp1
HG01884.hp2
HG01891.hp1
others(23): Show 
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03516.hp1
HG03654.hp2
HG03669.hp1
HG04115.hp1
HG04199.hp2
HG04228.hp1
NA18522.hp1
NA20805.hp1
 intron_variant MODIFIER c.1153-3098A>T
c.1153-3098A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13123493
chr20:13123696 C
C
 T
T
 6 a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
others(3): Show 
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0002c0002t0008g0006
a0002c0002t0008g0047
a0002c0002t0013g0041
 6 HG03654.hp2
HG03669.hp1
HG04115.hp1
others(3): Show 
HG03654.hp2
HG03669.hp1
HG04115.hp1
HG04199.hp2
HG04228.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1153-2895C>T
c.1153-2895C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13123696
chr20:13123828 C
C
 T
T
 1 a0002c0002t0007g0278
a0002c0002t0007g0278
 1 HG02293.hp1
HG02293.hp1
 intron_variant MODIFIER c.1153-2763C>T
c.1153-2763C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13123828
chr20:13123946 C
C
 T
T
 8 a0001c0001t0001g0124
a0001c0001t0007g0216
a0001c0001t0022g0129
others(5): Show 
a0001c0001t0001g0124
a0001c0001t0007g0216
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0054g0286
a0001c0005t0016g0147
a0002c0002t0001g0199
a0002c0002t0031g0001
 8 HG01168.hp1
HG01192.hp1
HG01255.hp2
others(5): Show 
HG01168.hp1
HG01192.hp1
HG01255.hp2
HG01346.hp1
HG02258.hp2
HG02280.hp2
HG03486.hp2
NA18948.hp2
 intron_variant MODIFIER c.1153-2645C>T
c.1153-2645C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13123946
chr20:13123947 G
G
 A
A
 1 a0001c0005t0047g0068
a0001c0005t0047g0068
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.1153-2644G>A
c.1153-2644G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13123947
chr20:13123957 A
A
 G
G
 1 a0001c0005t0009g0079
a0001c0005t0009g0079
 1 HG01978.hp2
HG01978.hp2
 intron_variant MODIFIER c.1153-2634A>G
c.1153-2634A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13123957
chr20:13124020 A
A
 G
G
 219 a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
others(216): Show 
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0003g0070
a0001c0001t0003g0112
a0001c0001t0003g0126
a0001c0001t0003g0157
a0001c0001t0004g0219
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0020g0138
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0008
a0002c0002t0002g0027
a0002c0002t0003g0196
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
 219 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(216): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00609.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18943.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18973.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp2
NA19077.hp1
NA19086.hp2
NA19089.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1153-2571A>G
c.1153-2571A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13124020
chr20:13124047 C
C
 T
T
 1 a0001c0001t0063g0232
a0001c0001t0063g0232
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.1153-2544C>T
c.1153-2544C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13124047
chr20:13124209 G
G
 C
C
 1 a0001c0001t0059g0290
a0001c0001t0059g0290
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.1153-2382G>C
c.1153-2382G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13124209
chr20:13124210 C
C
 G
G
 1 a0001c0001t0063g0232
a0001c0001t0063g0232
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.1153-2381C>G
c.1153-2381C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13124210
chr20:13124219 C
C
 T
T
 1 a0001c0001t0001g0141
a0001c0001t0001g0141
 1 HG00140.hp2
HG00140.hp2
 intron_variant MODIFIER c.1153-2372C>T
c.1153-2372C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13124219
chr20:13124579 G
G
 C
C
 4 a0001c0001t0001g0292
a0001c0001t0004g0226
a0001c0001t0004g0291
others(1): Show 
a0001c0001t0001g0292
a0001c0001t0004g0226
a0001c0001t0004g0291
a0002c0002t0001g0212
 4 HG02257.hp1
HG02922.hp1
HG03130.hp1
others(1): Show 
HG02257.hp1
HG02922.hp1
HG03130.hp1
HG03139.hp2
 intron_variant MODIFIER c.1153-2012G>C
c.1153-2012G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13124579
chr20:13124657 C
C
 T
T
 3 a0001c0001t0027g0263
a0001c0001t0027g0268
a0005c0010t0037g0167
a0001c0001t0027g0263
a0001c0001t0027g0268
a0005c0010t0037g0167
 3 HG01884.hp1
HG02630.hp2
HG03041.hp2
HG01884.hp1
HG02630.hp2
HG03041.hp2
 intron_variant MODIFIER c.1153-1934C>T
c.1153-1934C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13124657
chr20:13124678 C
C
 T
T
 3 a0001c0001t0027g0263
a0001c0001t0027g0268
a0005c0010t0037g0167
a0001c0001t0027g0263
a0001c0001t0027g0268
a0005c0010t0037g0167
 3 HG01884.hp1
HG02630.hp2
HG03041.hp2
HG01884.hp1
HG02630.hp2
HG03041.hp2
 intron_variant MODIFIER c.1153-1913C>T
c.1153-1913C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13124678
chr20:13124784 G
G
 A
A
 1 a0001c0001t0063g0232
a0001c0001t0063g0232
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.1153-1807G>A
c.1153-1807G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13124784
chr20:13124789 G
G
 A
A
 204 a0001c0001t0001g0052
a0001c0001t0001g0124
a0001c0001t0001g0149
others(201): Show 
a0001c0001t0001g0052
a0001c0001t0001g0124
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0222
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0251
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0054g0286
a0001c0001t0056g0253
a0001c0001t0059g0290
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0200
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0006
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 204 HG00140.hp1
HG00280.hp1
HG00323.hp2
others(201): Show 
HG00140.hp1
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01071.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp1
HG02738.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18977.hp1
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp1
NA19001.hp2
NA19004.hp2
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19060.hp2
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1153-1802G>A
c.1153-1802G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13124789
chr20:13124809 C
C
 T
T
 6 a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
others(3): Show 
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0005t0009g0079
a0002c0002t0008g0006
a0002c0002t0008g0047
 6 HG01978.hp2
HG03654.hp2
HG03669.hp1
others(3): Show 
HG01978.hp2
HG03654.hp2
HG03669.hp1
HG04115.hp1
HG04199.hp2
HG04228.hp1
 intron_variant MODIFIER c.1153-1782C>T
c.1153-1782C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13124809
chr20:13124822 C
C
 T
T
 1 a0001c0005t0004g0244
a0001c0005t0004g0244
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.1153-1769C>T
c.1153-1769C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13124822
chr20:13124827 G
G
 T
T
 7 a0001c0001t0001g0124
a0001c0001t0022g0129
a0001c0001t0022g0130
others(4): Show 
a0001c0001t0001g0124
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0054g0286
a0001c0005t0016g0147
a0002c0002t0001g0199
a0002c0002t0031g0001
 7 HG01168.hp1
HG01192.hp1
HG01255.hp2
others(4): Show 
HG01168.hp1
HG01192.hp1
HG01255.hp2
HG01346.hp1
HG02258.hp2
HG02280.hp2
NA18948.hp2
 intron_variant MODIFIER c.1153-1764G>T
c.1153-1764G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13124827
chr20:13125072 CT
CT
 C
C
 21 a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
others(18): Show 
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0059g0290
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0058g0257
a0001c0005t0047g0068
a0001c0009t0011g0161
a0001c0012t0023g0165
a0005c0011t0023g0166
 21 HG01106.hp2
HG01243.hp1
HG02055.hp2
others(18): Show 
HG01106.hp2
HG01243.hp1
HG02055.hp2
HG02145.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp2
HG02895.hp2
HG03195.hp1
HG03209.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03540.hp2
NA18522.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19240.hp2
 intron_variant MODIFIER c.1153-1517delT
c.1153-1517delT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 INFO_REALIGN_3_PRIME chr20 13125072
chr20:13125206 C
C
 T
T
 44 a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
others(41): Show 
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0049g0077
a0001c0003t0060g0267
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0014t0005g0083
a0002c0002t0002g0027
a0002c0002t0008g0006
a0002c0002t0008g0047
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
 44 HG00642.hp2
HG00673.hp1
HG01069.hp1
others(41): Show 
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01258.hp2
HG01496.hp2
HG01516.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG02056.hp1
HG02135.hp2
HG02293.hp2
HG02451.hp2
HG02615.hp1
HG03239.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp1
HG04199.hp2
HG04228.hp1
NA18747.hp1
NA18948.hp1
NA18949.hp2
NA18956.hp2
NA18959.hp1
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18985.hp1
NA18988.hp2
NA19001.hp2
NA19011.hp2
NA19012.hp2
NA19060.hp2
NA19068.hp1
NA19077.hp1
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.1153-1385C>T
c.1153-1385C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13125206
chr20:13125301 G
G
 A
A
 3 a0001c0001t0003g0070
a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0003g0070
a0001c0001t0039g0121
a0001c0001t0057g0281
 3 HG01071.hp2
HG02015.hp2
HG04228.hp2
HG01071.hp2
HG02015.hp2
HG04228.hp2
 intron_variant MODIFIER c.1153-1290G>A
c.1153-1290G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13125301
chr20:13125371 A
A
 C
C
 1 a0001c0009t0011g0161
a0001c0009t0011g0161
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.1153-1220A>C
c.1153-1220A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13125371
chr20:13125502 T
T
 C
C
 3 a0002c0006t0005g0171
a0002c0006t0006g0039
a0002c0006t0006g0043
a0002c0006t0005g0171
a0002c0006t0006g0039
a0002c0006t0006g0043
 3 NA18968.hp2
NA18981.hp2
NA18985.hp1
NA18968.hp2
NA18981.hp2
NA18985.hp1
 intron_variant MODIFIER c.1153-1089T>C
c.1153-1089T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13125502
chr20:13125660 G
G
 A
A
 3 a0001c0001t0016g0136
a0002c0002t0016g0114
a0002c0002t0035g0056
a0001c0001t0016g0136
a0002c0002t0016g0114
a0002c0002t0035g0056
 3 HG00738.hp2
HG01168.hp2
HG01515.hp1
HG00738.hp2
HG01168.hp2
HG01515.hp1
 intron_variant MODIFIER c.1153-931G>A
c.1153-931G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13125660
chr20:13125820 T
T
 C
C
 173 a0001c0001t0001g0052
a0001c0001t0001g0124
a0001c0001t0001g0149
others(170): Show 
a0001c0001t0001g0052
a0001c0001t0001g0124
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0222
a0001c0001t0004g0226
a0001c0001t0004g0251
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0054g0286
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0003t0005g0109
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0042g0184
a0001c0005t0001g0080
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0016g0114
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0043g0193
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0008c0015t0002g0050
 173 HG00140.hp1
HG00323.hp2
HG00408.hp2
others(170): Show 
HG00140.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03831.hp1
HG03831.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18977.hp1
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA19001.hp2
NA19004.hp2
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19060.hp2
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1153-771T>C
c.1153-771T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13125820
chr20:13125853 G
G
 A
A
 5 a0001c0001t0033g0045
a0001c0001t0056g0253
a0001c0003t0005g0109
others(2): Show 
a0001c0001t0033g0045
a0001c0001t0056g0253
a0001c0003t0005g0109
a0001c0004t0042g0184
a0002c0002t0062g0280
 5 HG02071.hp1
NA18956.hp1
NA18990.hp2
others(2): Show 
HG02071.hp1
NA18956.hp1
NA18990.hp2
NA19074.hp2
NA19086.hp2
 intron_variant MODIFIER c.1153-738G>A
c.1153-738G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13125853
chr20:13126078 T
T
 C
C
 39 a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
others(36): Show 
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0014t0005g0083
a0002c0002t0002g0027
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
 39 HG00642.hp2
HG00673.hp1
HG01069.hp1
others(36): Show 
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01258.hp2
HG01496.hp2
HG01516.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02056.hp1
HG02135.hp2
HG02293.hp2
HG02451.hp2
HG03239.hp1
HG03831.hp2
NA18747.hp1
NA18948.hp1
NA18949.hp2
NA18956.hp2
NA18959.hp1
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18985.hp1
NA18988.hp2
NA19001.hp2
NA19011.hp2
NA19012.hp2
NA19060.hp2
NA19068.hp1
NA19077.hp1
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.1153-513T>C
c.1153-513T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13126078
chr20:13126084 C
C
 A
A
 1 a0001c0005t0001g0080
a0001c0005t0001g0080
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.1153-507C>A
c.1153-507C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13126084
chr20:13126204 A
A
 G
G
 1 a0001c0001t0001g0096
a0001c0001t0001g0096
 1 NA18964.hp2
NA18964.hp2
 intron_variant MODIFIER c.1153-387A>G
c.1153-387A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13126204
chr20:13126258 G
G
 A
A
 2 a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0039g0121
a0001c0001t0057g0281
 2 HG01071.hp2
HG02015.hp2
HG01071.hp2
HG02015.hp2
 intron_variant MODIFIER c.1153-333G>A
c.1153-333G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 8/11 chr20 13126258
chr20:13127001 C
C
 T
T
 1 a0001c0001t0003g0157
a0001c0001t0003g0157
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.1279+284C>T
c.1279+284C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13127001
chr20:13127323 C
C
 G
G
 171 a0001c0001t0001g0052
a0001c0001t0001g0124
a0001c0001t0001g0156
others(168): Show 
a0001c0001t0001g0052
a0001c0001t0001g0124
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0222
a0001c0001t0004g0226
a0001c0001t0004g0251
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0054g0286
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0003t0005g0109
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0042g0184
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0016g0114
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0043g0193
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0008c0015t0002g0050
 171 HG00140.hp1
HG00323.hp2
HG00408.hp2
others(168): Show 
HG00140.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp2
HG03017.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03831.hp1
HG03831.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18977.hp1
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA19001.hp2
NA19004.hp2
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19060.hp2
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1279+606C>G
c.1279+606C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13127323
chr20:13127391 A
A
 C
C
 1 a0001c0001t0015g0256
a0001c0001t0015g0256
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.1279+674A>C
c.1279+674A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13127391
chr20:13127676 C
C
 A
A
 1 a0002c0006t0005g0171
a0002c0006t0005g0171
 1 NA18985.hp1
NA18985.hp1
 intron_variant MODIFIER c.1279+959C>A
c.1279+959C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13127676
chr20:13127707 C
C
 A
A
 1 a0001c0001t0003g0123
a0001c0001t0003g0123
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.1279+990C>A
c.1279+990C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13127707
chr20:13127740 T
T
 C
C
 3 a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0009g0151
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0009g0151
 3 HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02723.hp2
HG02896.hp1
HG02897.hp1
 intron_variant MODIFIER c.1279+1023T>C
c.1279+1023T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13127740
chr20:13127804 G
G
 A
A
 7 a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
others(4): Show 
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0012t0023g0165
a0005c0011t0023g0166
 7 HG01243.hp1
HG02055.hp2
HG02145.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02145.hp2
HG02451.hp1
HG02895.hp2
HG03471.hp1
NA18522.hp2
 intron_variant MODIFIER c.1279+1087G>A
c.1279+1087G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13127804
chr20:13127806 T
T
 C
C
 2 a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0039g0121
a0001c0001t0057g0281
 2 HG01071.hp2
HG02015.hp2
HG01071.hp2
HG02015.hp2
 intron_variant MODIFIER c.1279+1089T>C
c.1279+1089T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13127806
chr20:13127841 C
C
 A
A
 1 a0002c0002t0036g0061
a0002c0002t0036g0061
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.1279+1124C>A
c.1279+1124C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13127841
chr20:13128028 A
A
 G
G
 2 a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0027g0263
a0001c0001t0027g0268
 2 HG02630.hp2
HG03041.hp2
HG02630.hp2
HG03041.hp2
 intron_variant MODIFIER c.1279+1311A>G
c.1279+1311A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13128028
chr20:13128101 A
A
 G
G
 8 a0001c0001t0003g0157
a0001c0001t0007g0221
a0001c0001t0007g0228
others(5): Show 
a0001c0001t0003g0157
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
 8 HG01884.hp2
HG01891.hp2
HG02055.hp1
others(5): Show 
HG01884.hp2
HG01891.hp2
HG02055.hp1
HG02109.hp2
HG02486.hp1
HG02723.hp1
HG03130.hp2
NA20805.hp1
 intron_variant MODIFIER c.1279+1384A>G
c.1279+1384A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13128101
chr20:13128207 T
T
 C
C
 6 a0001c0001t0016g0136
a0001c0001t0027g0263
a0001c0001t0027g0268
others(3): Show 
a0001c0001t0016g0136
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0004t0016g0091
a0002c0002t0016g0114
a0002c0002t0035g0056
 6 HG00639.hp1
HG00738.hp2
HG01168.hp2
others(3): Show 
HG00639.hp1
HG00738.hp2
HG01168.hp2
HG01515.hp1
HG02630.hp2
HG03041.hp2
 intron_variant MODIFIER c.1279+1490T>C
c.1279+1490T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13128207
chr20:13128344 C
C
 A
A
 29 a0001c0001t0001g0124
a0001c0001t0005g0092
a0001c0001t0005g0128
others(26): Show 
a0001c0001t0001g0124
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0045g0163
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0004t0042g0184
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0048g0164
a0001c0012t0023g0165
a0002c0002t0001g0199
a0002c0002t0031g0001
a0002c0002t0062g0280
a0005c0011t0023g0166
 29 HG01168.hp1
HG01192.hp1
HG01243.hp1
others(26): Show 
HG01168.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG02055.hp2
HG02071.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02647.hp1
HG02895.hp2
HG03139.hp1
HG03471.hp1
HG04115.hp2
HG06807.hp1
NA18522.hp2
NA18948.hp2
NA18956.hp1
NA18990.hp2
NA19043.hp1
NA19086.hp2
 intron_variant MODIFIER c.1279+1627C>A
c.1279+1627C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13128344
chr20:13128380 T
T
 A
A
 1 a0001c0009t0011g0161
a0001c0009t0011g0161
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.1279+1663T>A
c.1279+1663T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13128380
chr20:13128667 G
G
 A
A
 7 a0001c0001t0001g0124
a0001c0001t0022g0129
a0001c0001t0022g0130
others(4): Show 
a0001c0001t0001g0124
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0054g0286
a0001c0001t0055g0287
a0002c0002t0001g0199
a0002c0002t0031g0001
 7 HG01168.hp1
HG01192.hp1
HG01255.hp2
others(4): Show 
HG01168.hp1
HG01192.hp1
HG01255.hp2
HG01346.hp1
HG02258.hp2
HG04115.hp2
NA18948.hp2
 intron_variant MODIFIER c.1279+1950G>A
c.1279+1950G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13128667
chr20:13128871 AT
AT
 A
A
 112 a0001c0001t0001g0052
a0001c0001t0001g0095
a0001c0001t0001g0124
others(109): Show 
a0001c0001t0001g0052
a0001c0001t0001g0095
a0001c0001t0001g0124
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0003g0157
a0001c0001t0004g0222
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0270
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0012g0259
a0001c0001t0013g0060
a0001c0001t0015g0218
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0019g0160
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0045g0163
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0059g0290
a0001c0003t0005g0109
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0004t0016g0091
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0199
a0002c0002t0008g0044
a0002c0002t0016g0114
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0035g0056
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0011t0023g0166
 112 HG00280.hp1
HG00408.hp2
HG00639.hp1
others(109): Show 
HG00280.hp1
HG00408.hp2
HG00639.hp1
HG00642.hp2
HG00673.hp1
HG00738.hp2
HG01069.hp1
HG01071.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp1
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03831.hp2
HG04115.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18985.hp1
NA18988.hp2
NA18990.hp2
NA19001.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19060.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA19086.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1279+2175delT
c.1279+2175delT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 INFO_REALIGN_3_PRIME chr20 13128871
chr20:13128871 ATT
ATT
 A
A
 63 a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
others(60): Show 
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0179
a0001c0001t0003g0192
a0001c0001t0004g0251
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0039g0121
a0001c0001t0051g0075
a0001c0001t0057g0281
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0005t0018g0084
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0034g0024
a0002c0002t0043g0193
a0002c0018t0002g0054
a0005c0010t0037g0167
a0008c0015t0002g0050
 63 HG00140.hp1
HG00323.hp1
HG00323.hp2
others(60): Show 
HG00140.hp1
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01071.hp2
HG01167.hp1
HG01192.hp2
HG01261.hp2
HG01433.hp2
HG01884.hp1
HG02015.hp2
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02135.hp1
HG02293.hp1
HG03017.hp2
HG03491.hp2
HG03516.hp1
HG03831.hp1
HG04204.hp2
HG04228.hp2
NA18747.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18965.hp1
NA18967.hp2
NA18970.hp2
NA18971.hp2
NA18973.hp2
NA18977.hp1
NA18981.hp1
NA18982.hp2
NA18990.hp1
NA19004.hp2
NA19010.hp2
NA19012.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19077.hp2
NA19086.hp1
NA19089.hp1
NA19091.hp2
NA20300.hp2
 intron_variant MODIFIER c.1279+2174_1279+217
others(6): Show 
c.1279+2174_1279+2175delTT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 INFO_REALIGN_3_PRIME chr20 13128871
chr20:13128874 T
T
 C
C
 1 a0001c0001t0063g0232
a0001c0001t0063g0232
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.1279+2157T>C
c.1279+2157T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13128874
chr20:13128923 C
C
 G
G
 1 a0001c0003t0012g0245
a0001c0003t0012g0245
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.1279+2206C>G
c.1279+2206C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13128923
chr20:13128940 G
G
 T
T
 40 a0001c0003t0005g0109
a0001c0003t0005g0132
a0001c0003t0005g0168
others(37): Show 
a0001c0003t0005g0109
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0014t0005g0083
a0002c0002t0002g0027
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
 40 HG00642.hp2
HG00673.hp1
HG01069.hp1
others(37): Show 
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01258.hp2
HG01496.hp2
HG01516.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02056.hp1
HG02135.hp2
HG02293.hp2
HG02451.hp2
HG03239.hp1
HG03831.hp2
NA18747.hp1
NA18948.hp1
NA18949.hp2
NA18956.hp2
NA18959.hp1
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18985.hp1
NA18988.hp2
NA19001.hp2
NA19011.hp2
NA19012.hp2
NA19060.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.1279+2223G>T
c.1279+2223G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13128940
chr20:13129055 T
T
 C
C
 1 a0001c0001t0004g0247
a0001c0001t0004g0247
 1 NA19063.hp2
NA19063.hp2
 intron_variant MODIFIER c.1279+2338T>C
c.1279+2338T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13129055
chr20:13129101 G
G
 A
A
 2 a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0039g0121
a0001c0001t0057g0281
 2 HG01071.hp2
HG02015.hp2
HG01071.hp2
HG02015.hp2
 intron_variant MODIFIER c.1279+2384G>A
c.1279+2384G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13129101
chr20:13129151 G
G
 C
C
 1 a0001c0001t0004g0288
a0001c0001t0004g0288
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.1279+2434G>C
c.1279+2434G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13129151
chr20:13129204 G
G
 A
A
 81 a0001c0001t0001g0052
a0001c0001t0001g0156
a0001c0001t0001g0158
others(78): Show 
a0001c0001t0001g0052
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0222
a0001c0001t0004g0226
a0001c0001t0004g0251
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0003t0012g0262
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0005t0018g0084
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0034g0024
a0002c0002t0043g0193
a0002c0018t0002g0054
a0005c0010t0037g0167
a0008c0015t0002g0050
 81 HG00140.hp1
HG00323.hp2
HG00408.hp2
others(78): Show 
HG00140.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01109.hp2
HG01167.hp1
HG01192.hp2
HG01261.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02109.hp2
HG02135.hp1
HG02257.hp1
HG02293.hp1
HG02486.hp1
HG02630.hp1
HG02723.hp1
HG02809.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp2
HG03017.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03225.hp1
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03831.hp1
HG04204.hp2
HG04228.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18965.hp1
NA18967.hp2
NA18970.hp2
NA18971.hp2
NA18973.hp2
NA18977.hp1
NA18981.hp1
NA18982.hp2
NA18990.hp1
NA19004.hp2
NA19010.hp2
NA19012.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19077.hp2
NA19086.hp1
NA19089.hp1
NA19091.hp2
NA20300.hp2
NA20805.hp1
 intron_variant MODIFIER c.1279+2487G>A
c.1279+2487G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13129204
chr20:13129207 G
G
 A
A
 2 a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0227
a0001c0005t0004g0235
 2 HG02896.hp1
HG02897.hp1
HG02896.hp1
HG02897.hp1
 intron_variant MODIFIER c.1279+2490G>A
c.1279+2490G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13129207
chr20:13129294 G
G
 C
C
 2 a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0039g0121
a0001c0001t0057g0281
 2 HG01071.hp2
HG02015.hp2
HG01071.hp2
HG02015.hp2
 intron_variant MODIFIER c.1279+2577G>C
c.1279+2577G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13129294
chr20:13129337 G
G
 A
A
 1 a0001c0003t0060g0267
a0001c0003t0060g0267
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.1279+2620G>A
c.1279+2620G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13129337
chr20:13129633 T
T
 C
C
 4 a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0060
others(1): Show 
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0060
a0001c0001t0051g0075
 4 HG00280.hp1
HG00323.hp1
HG01496.hp1
others(1): Show 
HG00280.hp1
HG00323.hp1
HG01496.hp1
NA20752.hp2
 intron_variant MODIFIER c.1279+2916T>C
c.1279+2916T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13129633
chr20:13129672 C
C
 T
T
 1 a0001c0001t0007g0216
a0001c0001t0007g0216
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.1279+2955C>T
c.1279+2955C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13129672
chr20:13129787 T
T
 C
C
 1 a0001c0001t0063g0232
a0001c0001t0063g0232
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.1279+3070T>C
c.1279+3070T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13129787
chr20:13129860 T
T
 G
G
 4 a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0003g0133
others(1): Show 
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0003g0133
a0001c0004t0003g0174
 4 NA18944.hp1
NA19004.hp2
NA19068.hp2
others(1): Show 
NA18944.hp1
NA19004.hp2
NA19068.hp2
NA19074.hp1
 intron_variant MODIFIER c.1279+3143T>G
c.1279+3143T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13129860
chr20:13129923 T
T
 C
C
 6 a0001c0001t0016g0136
a0001c0001t0027g0263
a0001c0001t0027g0268
others(3): Show 
a0001c0001t0016g0136
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0004t0016g0091
a0002c0002t0016g0114
a0002c0002t0035g0056
 6 HG00639.hp1
HG00738.hp2
HG01168.hp2
others(3): Show 
HG00639.hp1
HG00738.hp2
HG01168.hp2
HG01515.hp1
HG02630.hp2
HG03041.hp2
 intron_variant MODIFIER c.1279+3206T>C
c.1279+3206T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13129923
chr20:13129985 A
A
 G
G
 6 a0001c0001t0016g0136
a0001c0001t0027g0263
a0001c0001t0027g0268
others(3): Show 
a0001c0001t0016g0136
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0004t0016g0091
a0002c0002t0016g0114
a0002c0002t0035g0056
 6 HG00639.hp1
HG00738.hp2
HG01168.hp2
others(3): Show 
HG00639.hp1
HG00738.hp2
HG01168.hp2
HG01515.hp1
HG02630.hp2
HG03041.hp2
 intron_variant MODIFIER c.1279+3268A>G
c.1279+3268A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13129985
chr20:13130069 A
A
 G
G
 2 a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0039g0121
a0001c0001t0057g0281
 2 HG01071.hp2
HG02015.hp2
HG01071.hp2
HG02015.hp2
 intron_variant MODIFIER c.1279+3352A>G
c.1279+3352A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13130069
chr20:13130084 A
A
 T
T
 1 a0001c0001t0004g0225
a0001c0001t0004g0225
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.1279+3367A>T
c.1279+3367A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13130084
chr20:13130085 A
A
 T
T
 1 a0001c0001t0004g0225
a0001c0001t0004g0225
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.1279+3368A>T
c.1279+3368A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13130085
chr20:13130126 A
A
 G
G
 72 a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
others(69): Show 
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0251
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0044g0073
a0001c0001t0061g0274
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0005t0018g0084
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0034g0024
a0002c0002t0043g0193
a0002c0018t0002g0054
a0005c0010t0037g0167
a0008c0015t0002g0050
 72 HG00140.hp1
HG00323.hp2
HG00408.hp2
others(69): Show 
HG00140.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01167.hp1
HG01192.hp2
HG01261.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02109.hp2
HG02135.hp1
HG02293.hp1
HG02486.hp1
HG02723.hp1
HG03017.hp2
HG03130.hp2
HG03491.hp2
HG03516.hp1
HG03831.hp1
HG04204.hp2
HG04228.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18965.hp1
NA18967.hp2
NA18970.hp2
NA18971.hp2
NA18973.hp2
NA18977.hp1
NA18981.hp1
NA18982.hp2
NA18990.hp1
NA19004.hp2
NA19010.hp2
NA19012.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19077.hp2
NA19086.hp1
NA19089.hp1
NA19091.hp2
NA20300.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.1279+3409A>G
c.1279+3409A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13130126
chr20:13130326 G
G
 A
A
 1 a0001c0005t0001g0080
a0001c0005t0001g0080
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.1279+3609G>A
c.1279+3609G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13130326
chr20:13130402 TGA
TGA
 T
T
 12 a0001c0001t0003g0113
a0001c0001t0003g0126
a0001c0001t0003g0131
others(9): Show 
a0001c0001t0003g0113
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0135
a0001c0001t0003g0180
a0001c0001t0004g0251
a0002c0002t0002g0009
a0002c0002t0003g0197
a0002c0002t0003g0200
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
 12 HG00609.hp2
HG00735.hp1
HG01261.hp2
others(9): Show 
HG00609.hp2
HG00735.hp1
HG01261.hp2
HG02071.hp2
HG02293.hp1
NA18943.hp2
NA18960.hp1
NA18971.hp2
NA18973.hp2
NA18981.hp1
NA18982.hp2
NA20300.hp2
 intron_variant MODIFIER c.1279+3687_1279+368
others(6): Show 
c.1279+3687_1279+3688delAG
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 INFO_REALIGN_3_PRIME chr20 13130402
chr20:13130425 G
G
 T
T
 1 a0001c0001t0063g0232
a0001c0001t0063g0232
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.1279+3708G>T
c.1279+3708G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13130425
chr20:13130489 G
G
 A
A
 2 a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0025g0088
a0001c0005t0025g0097
 2 HG01516.hp2
HG02738.hp2
HG01516.hp2
HG02738.hp2
 intron_variant MODIFIER c.1279+3772G>A
c.1279+3772G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13130489
chr20:13130676 C
C
 T
T
 29 a0001c0001t0004g0229
a0001c0001t0009g0111
a0001c0001t0009g0148
others(26): Show 
a0001c0001t0004g0229
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0030g0261
a0001c0001t0051g0075
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0040g0206
a0001c0004t0065g0284
a0001c0005t0003g0085
a0001c0005t0009g0079
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0002c0002t0013g0041
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0036g0061
a0002c0002t0052g0087
a0006c0016t0064g0248
a0007c0017t0013g0049
 29 HG00280.hp1
HG00323.hp1
HG00738.hp1
others(26): Show 
HG00280.hp1
HG00323.hp1
HG00738.hp1
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01258.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG01516.hp2
HG01978.hp2
HG02109.hp1
HG02155.hp1
HG02602.hp2
HG02738.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp2
HG03017.hp1
HG03195.hp2
HG04199.hp1
HG04204.hp1
NA18943.hp1
NA18960.hp2
NA18988.hp1
NA20300.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1279+3959C>T
c.1279+3959C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13130676
chr20:13131132 G
G
 GA
GA
 174 a0001c0001t0001g0052
a0001c0001t0001g0124
a0001c0001t0001g0156
others(171): Show 
a0001c0001t0001g0052
a0001c0001t0001g0124
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0222
a0001c0001t0004g0226
a0001c0001t0004g0251
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0003t0005g0109
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0042g0184
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0016g0114
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0043g0193
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0008c0015t0002g0050
 174 HG00140.hp1
HG00323.hp2
HG00408.hp2
others(171): Show 
HG00140.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp2
HG03017.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18977.hp1
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA19001.hp2
NA19004.hp2
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19060.hp2
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.1279+4416dupA
c.1279+4416dupA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 INFO_REALIGN_3_PRIME chr20 13131132
chr20:13131308 G
G
 A
A
 1 a0001c0003t0010g0282
a0001c0003t0010g0282
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.1279+4591G>A
c.1279+4591G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13131308
chr20:13131340 C
C
 T
T
 2 a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0039g0121
a0001c0001t0057g0281
 2 HG01071.hp2
HG02015.hp2
HG01071.hp2
HG02015.hp2
 intron_variant MODIFIER c.1279+4623C>T
c.1279+4623C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13131340
chr20:13131376 T
T
 C
C
 1 a0001c0001t0003g0142
a0001c0001t0003g0142
 1 NA18967.hp2
NA18967.hp2
 intron_variant MODIFIER c.1279+4659T>C
c.1279+4659T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13131376
chr20:13131405 C
C
 A
A
 7 a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
others(4): Show 
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0012t0023g0165
a0005c0011t0023g0166
 7 HG01243.hp1
HG02055.hp2
HG02145.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02145.hp2
HG02451.hp1
HG02895.hp2
HG03471.hp1
NA18522.hp2
 intron_variant MODIFIER c.1279+4688C>A
c.1279+4688C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13131405
chr20:13131408 A
A
 G
G
 6 a0001c0001t0005g0128
a0001c0001t0010g0215
a0001c0005t0005g0069
others(3): Show 
a0001c0001t0005g0128
a0001c0001t0010g0215
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0048g0164
 6 HG01255.hp1
HG02559.hp1
HG02622.hp1
others(3): Show 
HG01255.hp1
HG02559.hp1
HG02622.hp1
HG02647.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.1279+4691A>G
c.1279+4691A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13131408
chr20:13131529 A
A
 G
G
 6 a0001c0001t0016g0136
a0001c0001t0027g0263
a0001c0001t0027g0268
others(3): Show 
a0001c0001t0016g0136
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0004t0016g0091
a0002c0002t0016g0114
a0002c0002t0035g0056
 6 HG00639.hp1
HG00738.hp2
HG01168.hp2
others(3): Show 
HG00639.hp1
HG00738.hp2
HG01168.hp2
HG01515.hp1
HG02630.hp2
HG03041.hp2
 intron_variant MODIFIER c.1279+4812A>G
c.1279+4812A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13131529
chr20:13131743 T
T
 G
G
 6 a0001c0001t0016g0136
a0001c0001t0027g0263
a0001c0001t0027g0268
others(3): Show 
a0001c0001t0016g0136
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0004t0016g0091
a0002c0002t0016g0114
a0002c0002t0035g0056
 6 HG00639.hp1
HG00738.hp2
HG01168.hp2
others(3): Show 
HG00639.hp1
HG00738.hp2
HG01168.hp2
HG01515.hp1
HG02630.hp2
HG03041.hp2
 intron_variant MODIFIER c.1279+5026T>G
c.1279+5026T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13131743
chr20:13131877 C
C
 A
A
 53 a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
others(50): Show 
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0180
a0001c0001t0004g0251
a0001c0001t0007g0252
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0005t0018g0084
a0002c0002t0002g0007
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0034g0024
a0002c0002t0043g0193
a0002c0018t0002g0054
a0008c0015t0002g0050
 53 HG00140.hp1
HG00323.hp2
HG00438.hp1
others(50): Show 
HG00140.hp1
HG00323.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG01167.hp1
HG01192.hp2
HG01261.hp2
HG02071.hp2
HG02074.hp1
HG02135.hp1
HG02293.hp1
HG03017.hp2
HG03491.hp2
HG03831.hp1
HG04204.hp2
HG04228.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18965.hp1
NA18967.hp2
NA18971.hp2
NA18973.hp2
NA18977.hp1
NA18981.hp1
NA18982.hp2
NA18990.hp1
NA19004.hp2
NA19010.hp2
NA19012.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19077.hp2
NA19086.hp1
NA19089.hp1
NA19091.hp2
NA20300.hp2
 intron_variant MODIFIER c.1279+5160C>A
c.1279+5160C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13131877
chr20:13132052 G
G
 A
A
 163 a0001c0001t0001g0052
a0001c0001t0001g0124
a0001c0001t0001g0156
others(160): Show 
a0001c0001t0001g0052
a0001c0001t0001g0124
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0222
a0001c0001t0004g0226
a0001c0001t0004g0251
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0045g0163
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0059g0290
a0001c0003t0005g0109
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0042g0184
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0043g0193
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0008c0015t0002g0050
 163 HG00140.hp1
HG00323.hp2
HG00408.hp2
others(160): Show 
HG00140.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00741.hp1
HG01069.hp1
HG01071.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01433.hp2
HG01496.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp1
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp2
HG03017.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18977.hp1
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA19001.hp2
NA19004.hp2
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19060.hp2
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1279+5335G>A
c.1279+5335G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13132052
chr20:13132171 A
A
 AT
AT
 28 a0001c0001t0001g0106
a0001c0001t0001g0159
a0001c0001t0004g0233
others(25): Show 
a0001c0001t0001g0106
a0001c0001t0001g0159
a0001c0001t0004g0233
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0019g0119
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0033g0045
a0001c0001t0050g0101
a0001c0001t0056g0253
a0001c0004t0014g0137
a0001c0004t0024g0202
a0001c0004t0042g0184
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0048g0164
a0002c0002t0031g0001
a0002c0002t0062g0280
a0002c0006t0005g0171
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0039
a0002c0006t0006g0043
 28 HG00280.hp2
HG01255.hp1
HG02071.hp1
others(25): Show 
HG00280.hp2
HG01255.hp1
HG02071.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp2
HG02559.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG03041.hp2
HG03139.hp1
HG03239.hp2
HG06807.hp1
HG06807.hp2
NA18948.hp2
NA18956.hp1
NA18964.hp1
NA18965.hp2
NA18968.hp2
NA18981.hp2
NA18985.hp1
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19011.hp1
NA19086.hp2
NA20129.hp1
 intron_variant MODIFIER c.1279+5477dupT
c.1279+5477dupT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 INFO_REALIGN_3_PRIME chr20 13132171
chr20:13132171 A
A
 ATT
ATT
 13 a0001c0001t0001g0124
a0001c0001t0008g0013
a0001c0001t0014g0120
others(10): Show 
a0001c0001t0001g0124
a0001c0001t0008g0013
a0001c0001t0014g0120
a0001c0001t0016g0136
a0001c0001t0022g0129
a0001c0001t0055g0287
a0001c0003t0028g0249
a0001c0004t0016g0091
a0002c0002t0001g0199
a0002c0002t0016g0114
a0002c0002t0035g0056
a0002c0006t0005g0191
a0002c0006t0006g0037
 13 HG00639.hp1
HG00738.hp2
HG01168.hp1
others(10): Show 
HG00639.hp1
HG00738.hp2
HG01168.hp1
HG01168.hp2
HG01255.hp2
HG01346.hp1
HG01515.hp1
HG02602.hp1
HG04115.hp2
NA18949.hp2
NA18956.hp2
NA18977.hp2
NA19068.hp1
 intron_variant MODIFIER c.1279+5476_1279+547
others(6): Show 
c.1279+5476_1279+5477dupTT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 INFO_REALIGN_3_PRIME chr20 13132171
chr20:13132171 AT
AT
 A
A
 74 a0001c0001t0001g0052
a0001c0001t0001g0158
a0001c0001t0002g0011
others(71): Show 
a0001c0001t0001g0052
a0001c0001t0001g0158
a0001c0001t0002g0011
a0001c0001t0002g0021
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0180
a0001c0001t0004g0222
a0001c0001t0004g0251
a0001c0001t0004g0273
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0018g0104
a0001c0001t0046g0071
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0029g0275
a0001c0003t0058g0257
a0001c0004t0003g0175
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0005t0018g0084
a0001c0005t0030g0285
a0002c0002t0002g0007
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0017
a0002c0002t0026g0213
a0002c0002t0034g0024
a0002c0002t0043g0193
a0002c0006t0006g0028
a0002c0018t0002g0054
a0005c0011t0023g0166
a0008c0015t0002g0050
 74 HG00140.hp1
HG00323.hp2
HG00438.hp1
others(71): Show 
HG00140.hp1
HG00323.hp2
HG00438.hp1
HG00609.hp2
HG00673.hp1
HG00735.hp1
HG00741.hp1
HG01069.hp1
HG01071.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01192.hp2
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01884.hp2
HG01891.hp2
HG02055.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp1
HG02280.hp1
HG02293.hp1
HG02451.hp1
HG02486.hp1
HG02630.hp1
HG02723.hp1
HG02809.hp1
HG02895.hp1
HG03017.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03486.hp2
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03831.hp1
HG04204.hp2
HG04228.hp2
NA18943.hp2
NA18945.hp1
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18965.hp1
NA18967.hp2
NA18971.hp2
NA18973.hp2
NA18977.hp1
NA18981.hp1
NA18982.hp2
NA18986.hp1
NA18990.hp1
NA19010.hp2
NA19012.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19070.hp1
NA19077.hp2
NA19086.hp1
NA19089.hp1
NA20300.hp2
NA20805.hp1
 intron_variant MODIFIER c.1279+5477delT
c.1279+5477delT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 INFO_REALIGN_3_PRIME chr20 13132171
chr20:13132171 ATT
ATT
 A
A
 8 a0001c0001t0001g0156
a0001c0001t0002g0003
a0001c0001t0002g0031
others(5): Show 
a0001c0001t0001g0156
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0003g0133
a0001c0001t0063g0232
a0001c0004t0003g0174
a0002c0002t0002g0038
a0005c0010t0037g0167
 8 HG00621.hp1
HG01884.hp1
HG02896.hp2
others(5): Show 
HG00621.hp1
HG01884.hp1
HG02896.hp2
NA18944.hp1
NA19004.hp2
NA19043.hp2
NA19068.hp2
NA19074.hp1
 intron_variant MODIFIER c.1279+5476_1279+547
others(6): Show 
c.1279+5476_1279+5477delTT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 INFO_REALIGN_3_PRIME chr20 13132171
chr20:13132238 G
G
 A
A
 1 a0002c0002t0003g0198
a0002c0002t0003g0198
 1 HG01192.hp2
HG01192.hp2
 intron_variant MODIFIER c.1279+5521G>A
c.1279+5521G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13132238
chr20:13132329 G
G
 A
A
 40 a0001c0003t0005g0109
a0001c0003t0005g0132
a0001c0003t0005g0168
others(37): Show 
a0001c0003t0005g0109
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0014t0005g0083
a0002c0002t0002g0027
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
 40 HG00642.hp2
HG00673.hp1
HG01069.hp1
others(37): Show 
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01258.hp2
HG01496.hp2
HG01516.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02056.hp1
HG02135.hp2
HG02293.hp2
HG02451.hp2
HG03239.hp1
HG03831.hp2
NA18747.hp1
NA18948.hp1
NA18949.hp2
NA18956.hp2
NA18959.hp1
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18985.hp1
NA18988.hp2
NA19001.hp2
NA19011.hp2
NA19012.hp2
NA19060.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.1279+5612G>A
c.1279+5612G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13132329
chr20:13132342 A
A
 G
G
 22 a0001c0001t0001g0124
a0001c0001t0005g0092
a0001c0001t0005g0128
others(19): Show 
a0001c0001t0001g0124
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0045g0163
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0004t0042g0184
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0048g0164
a0002c0002t0001g0199
a0002c0002t0031g0001
a0002c0002t0062g0280
 22 HG01168.hp1
HG01192.hp1
HG01255.hp1
others(19): Show 
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG02071.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02647.hp1
HG03139.hp1
HG04115.hp2
HG06807.hp1
NA18948.hp2
NA18956.hp1
NA18990.hp2
NA19043.hp1
NA19086.hp2
 intron_variant MODIFIER c.1279+5625A>G
c.1279+5625A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13132342
chr20:13132509 G
G
 C
C
 2 a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0039g0121
a0001c0001t0057g0281
 2 HG01071.hp2
HG02015.hp2
HG01071.hp2
HG02015.hp2
 intron_variant MODIFIER c.1279+5792G>C
c.1279+5792G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13132509
chr20:13132550 T
T
 A
A
 2 a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0039g0121
a0001c0001t0057g0281
 2 HG01071.hp2
HG02015.hp2
HG01071.hp2
HG02015.hp2
 intron_variant MODIFIER c.1279+5833T>A
c.1279+5833T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13132550
chr20:13132880 T
T
 C
C
 2 a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0039g0121
a0001c0001t0057g0281
 2 HG01071.hp2
HG02015.hp2
HG01071.hp2
HG02015.hp2
 intron_variant MODIFIER c.1279+6163T>C
c.1279+6163T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13132880
chr20:13132928 G
G
 T
T
 1 a0001c0001t0007g0216
a0001c0001t0007g0216
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.1279+6211G>T
c.1279+6211G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13132928
chr20:13132939 G
G
 A
A
 14 a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
others(11): Show 
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0033g0045
a0001c0001t0045g0163
a0001c0001t0056g0253
a0001c0004t0042g0184
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0048g0164
a0002c0002t0062g0280
 14 HG01255.hp1
HG02071.hp1
HG02145.hp1
others(11): Show 
HG01255.hp1
HG02071.hp1
HG02145.hp1
HG02257.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02647.hp1
HG03139.hp1
HG06807.hp1
NA18956.hp1
NA18990.hp2
NA19043.hp1
NA19086.hp2
 intron_variant MODIFIER c.1279+6222G>A
c.1279+6222G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13132939
chr20:13133531 C
C
 T
T
 2 a0002c0002t0001g0102
a0002c0002t0008g0017
a0002c0002t0001g0102
a0002c0002t0008g0017
 2 HG02015.hp1
NA18986.hp1
HG02015.hp1
NA18986.hp1
 intron_variant MODIFIER c.1279+6814C>T
c.1279+6814C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13133531
chr20:13133741 G
G
 A
A
 2 a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0039g0121
a0001c0001t0057g0281
 2 HG01071.hp2
HG02015.hp2
HG01071.hp2
HG02015.hp2
 intron_variant MODIFIER c.1279+7024G>A
c.1279+7024G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13133741
chr20:13133782 G
G
 A
A
 1 a0001c0001t0004g0234
a0001c0001t0004g0234
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.1279+7065G>A
c.1279+7065G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13133782
chr20:13133795 A
A
 G
G
 1 a0001c0001t0005g0092
a0001c0001t0005g0092
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.1279+7078A>G
c.1279+7078A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13133795
chr20:13133878 C
C
 T
T
 2 a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0227
a0001c0005t0004g0235
 2 HG02896.hp1
HG02897.hp1
HG02896.hp1
HG02897.hp1
 intron_variant MODIFIER c.1279+7161C>T
c.1279+7161C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13133878
chr20:13134065 A
A
 G
G
 1 a0001c0005t0047g0068
a0001c0005t0047g0068
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.1279+7348A>G
c.1279+7348A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13134065
chr20:13134091 C
C
 T
T
 1 a0001c0005t0016g0147
a0001c0005t0016g0147
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1279+7374C>T
c.1279+7374C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13134091
chr20:13134099 T
T
 C
C
 1 a0002c0002t0008g0018
a0002c0002t0008g0018
 1 HG00423.hp2
HG00423.hp2
 intron_variant MODIFIER c.1279+7382T>C
c.1279+7382T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13134099
chr20:13134286 C
C
 T
T
 2 a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0039g0121
a0001c0001t0057g0281
 2 HG01071.hp2
HG02015.hp2
HG01071.hp2
HG02015.hp2
 intron_variant MODIFIER c.1279+7569C>T
c.1279+7569C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13134286
chr20:13134387 T
T
 C
C
 2 a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0039g0121
a0001c0001t0057g0281
 2 HG01071.hp2
HG02015.hp2
HG01071.hp2
HG02015.hp2
 intron_variant MODIFIER c.1279+7670T>C
c.1279+7670T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13134387
chr20:13134501 T
T
 C
C
 174 a0001c0001t0001g0052
a0001c0001t0001g0103
a0001c0001t0001g0124
others(171): Show 
a0001c0001t0001g0052
a0001c0001t0001g0103
a0001c0001t0001g0124
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0222
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0251
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0003t0005g0109
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0042g0184
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0016g0114
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0043g0193
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0008c0015t0002g0050
 174 HG00140.hp1
HG00323.hp2
HG00408.hp2
others(171): Show 
HG00140.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp2
HG03017.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18977.hp1
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA19001.hp2
NA19004.hp2
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19060.hp2
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1279+7784T>C
c.1279+7784T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13134501
chr20:13134763 C
C
 CA
CA
 8 a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
others(5): Show 
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0012t0023g0165
a0003c0007t0006g0066
a0005c0011t0023g0166
 8 HG01243.hp1
HG02055.hp2
HG02145.hp2
others(5): Show 
HG01243.hp1
HG02055.hp2
HG02145.hp2
HG02293.hp2
HG02451.hp1
HG02895.hp2
HG03471.hp1
NA18522.hp2
 intron_variant MODIFIER c.1279+8055dupA
c.1279+8055dupA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 INFO_REALIGN_3_PRIME chr20 13134763
chr20:13135070 A
A
 G
G
 47 a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
others(44): Show 
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0003t0005g0109
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0002g0027
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0011t0023g0166
 47 HG00642.hp2
HG00673.hp1
HG01069.hp1
others(44): Show 
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01243.hp1
HG01258.hp2
HG01496.hp2
HG01516.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02055.hp2
HG02056.hp1
HG02135.hp2
HG02145.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02895.hp2
HG03239.hp1
HG03471.hp1
HG03831.hp2
NA18522.hp2
NA18747.hp1
NA18948.hp1
NA18949.hp2
NA18956.hp2
NA18959.hp1
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18985.hp1
NA18988.hp2
NA19001.hp2
NA19011.hp2
NA19012.hp2
NA19060.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.1279+8353A>G
c.1279+8353A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13135070
chr20:13135580 T
T
 G
G
 1 a0001c0001t0063g0232
a0001c0001t0063g0232
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.1279+8863T>G
c.1279+8863T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13135580
chr20:13135720 G
G
 A
A
 4 a0001c0001t0016g0136
a0001c0004t0016g0091
a0002c0002t0016g0114
others(1): Show 
a0001c0001t0016g0136
a0001c0004t0016g0091
a0002c0002t0016g0114
a0002c0002t0035g0056
 4 HG00639.hp1
HG00738.hp2
HG01168.hp2
others(1): Show 
HG00639.hp1
HG00738.hp2
HG01168.hp2
HG01515.hp1
 intron_variant MODIFIER c.1279+9003G>A
c.1279+9003G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13135720
chr20:13136053 A
A
 C
C
 1 a0001c0001t0057g0281
a0001c0001t0057g0281
 1 HG02015.hp2
HG02015.hp2
 intron_variant MODIFIER c.1279+9336A>C
c.1279+9336A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13136053
chr20:13136452 T
T
 C
C
 3 a0001c0003t0005g0122
a0001c0003t0005g0125
a0002c0002t0052g0087
a0001c0003t0005g0122
a0001c0003t0005g0125
a0002c0002t0052g0087
 3 HG02155.hp1
NA18943.hp1
NA18960.hp2
HG02155.hp1
NA18943.hp1
NA18960.hp2
 intron_variant MODIFIER c.1279+9735T>C
c.1279+9735T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13136452
chr20:13136597 C
C
 G
G
 5 a0001c0001t0004g0288
a0001c0003t0029g0275
a0001c0003t0029g0283
others(2): Show 
a0001c0001t0004g0288
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0060g0267
 5 HG02615.hp1
HG02965.hp2
HG03654.hp2
others(2): Show 
HG02615.hp1
HG02965.hp2
HG03654.hp2
HG03669.hp1
HG04199.hp2
 intron_variant MODIFIER c.1279+9880C>G
c.1279+9880C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13136597
chr20:13136604 C
C
 CATAT
CATAT
 43 a0001c0001t0016g0136
a0001c0001t0027g0263
a0001c0001t0027g0268
others(40): Show 
a0001c0001t0016g0136
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0003t0005g0109
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0004t0016g0091
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0014t0005g0083
a0002c0002t0002g0027
a0002c0002t0016g0114
a0002c0002t0035g0056
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
 43 HG00639.hp1
HG00642.hp2
HG00673.hp1
others(40): Show 
HG00639.hp1
HG00642.hp2
HG00673.hp1
HG00738.hp2
HG01168.hp2
HG01258.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02056.hp1
HG02135.hp2
HG02293.hp2
HG02451.hp2
HG02630.hp2
HG03041.hp2
HG03239.hp1
HG03831.hp2
NA18747.hp1
NA18948.hp1
NA18949.hp2
NA18956.hp2
NA18959.hp1
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18985.hp1
NA19001.hp2
NA19011.hp2
NA19012.hp2
NA19060.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.1279+9899_1279+990
others(8): Show 
c.1279+9899_1279+9902dupTATA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 INFO_REALIGN_3_PRIME chr20 13136604
chr20:13136604 C
C
 CATATATA
others(3): Show 
CATATATATAT
 11 a0001c0001t0059g0290
a0001c0003t0010g0271
a0001c0003t0010g0272
others(8): Show 
a0001c0001t0059g0290
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0058g0257
a0001c0009t0011g0161
 11 HG01069.hp1
HG01071.hp1
HG01106.hp2
others(8): Show 
HG01069.hp1
HG01071.hp1
HG01106.hp2
HG01109.hp2
HG02280.hp1
HG02486.hp2
HG03195.hp1
HG03540.hp2
NA18522.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.1279+9893_1279+990
others(14): Show 
c.1279+9893_1279+9902dupTATATATATA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 INFO_REALIGN_3_PRIME chr20 13136604
chr20:13136604 C
C
 CATATATA
others(5): Show 
CATATATATATAT
 4 a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
others(1): Show 
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
 4 HG03209.hp2
HG03471.hp2
HG03486.hp1
others(1): Show 
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.1279+9891_1279+990
others(16): Show 
c.1279+9891_1279+9902dupTATATATATATA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 INFO_REALIGN_3_PRIME chr20 13136604
chr20:13136617 A
A
 G
G
 29 a0001c0001t0004g0229
a0001c0001t0009g0111
a0001c0001t0009g0148
others(26): Show 
a0001c0001t0004g0229
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0030g0261
a0001c0001t0051g0075
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0040g0206
a0001c0004t0065g0284
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0002c0002t0013g0041
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0036g0061
a0002c0002t0052g0087
a0006c0016t0064g0248
a0007c0017t0013g0049
 29 HG00280.hp1
HG00323.hp1
HG00738.hp1
others(26): Show 
HG00280.hp1
HG00323.hp1
HG00738.hp1
HG01106.hp1
HG01109.hp1
HG01258.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG01516.hp2
HG01978.hp2
HG02109.hp1
HG02155.hp1
HG02602.hp2
HG02723.hp2
HG02738.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp2
HG03017.hp1
HG03195.hp2
HG04199.hp1
HG04204.hp1
NA18943.hp1
NA18960.hp2
NA18988.hp1
NA20300.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1279+9900A>G
c.1279+9900A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13136617
chr20:13136618 T
T
 TAA
TAA
 63 a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
others(60): Show 
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0251
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0044g0073
a0001c0001t0061g0274
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0005t0003g0085
a0001c0005t0018g0084
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0034g0024
a0002c0002t0043g0193
a0002c0018t0002g0054
a0008c0015t0002g0050
 63 HG00140.hp1
HG00323.hp2
HG00408.hp2
others(60): Show 
HG00140.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01123.hp2
HG01167.hp1
HG01192.hp2
HG01261.hp2
HG01433.hp2
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02135.hp1
HG02293.hp1
HG03017.hp2
HG03491.hp2
HG03831.hp1
HG04204.hp2
HG04228.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18965.hp1
NA18967.hp2
NA18970.hp2
NA18971.hp2
NA18973.hp2
NA18977.hp1
NA18981.hp1
NA18982.hp2
NA18990.hp1
NA19004.hp2
NA19010.hp2
NA19012.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19077.hp2
NA19086.hp1
NA19089.hp1
NA19091.hp2
NA20300.hp2
NA20805.hp2
 intron_variant MODIFIER c.1279+9902_1279+990
others(6): Show 
c.1279+9902_1279+9903dupAA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 INFO_REALIGN_3_PRIME chr20 13136618
chr20:13136628 A
A
 G
G
 207 a0001c0001t0001g0052
a0001c0001t0001g0156
a0001c0001t0001g0158
others(204): Show 
a0001c0001t0001g0052
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0222
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0251
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0051g0075
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 207 HG00140.hp1
HG00280.hp1
HG00323.hp1
others(204): Show 
HG00140.hp1
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18977.hp1
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA19001.hp2
NA19004.hp2
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19060.hp2
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1279+9911A>G
c.1279+9911A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13136628
chr20:13136738 T
T
 G
G
 8 a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
others(5): Show 
a0001c0001t0001g0159
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0004g0219
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0019g0160
 8 HG01167.hp2
HG02622.hp2
HG02647.hp2
others(5): Show 
HG01167.hp2
HG02622.hp2
HG02647.hp2
HG02809.hp2
HG03225.hp2
HG06807.hp2
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.1279+10021T>G
c.1279+10021T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13136738
chr20:13137086 T
T
 C
C
 2 a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0039g0121
a0001c0001t0057g0281
 2 HG01071.hp2
HG02015.hp2
HG01071.hp2
HG02015.hp2
 intron_variant MODIFIER c.1279+10369T>C
c.1279+10369T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13137086
chr20:13137100 A
A
 T
T
 210 a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
others(207): Show 
a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0222
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0251
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0051g0075
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 210 HG00140.hp1
HG00280.hp1
HG00323.hp1
others(207): Show 
HG00140.hp1
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18977.hp1
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA19001.hp2
NA19004.hp2
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19060.hp2
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1279+10383A>T
c.1279+10383A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13137100
chr20:13137108 CT
CT
 C
C
 40 a0001c0003t0005g0109
a0001c0003t0005g0132
a0001c0003t0005g0168
others(37): Show 
a0001c0003t0005g0109
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0014t0005g0083
a0002c0002t0002g0027
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
 40 HG00642.hp2
HG00673.hp1
HG01069.hp1
others(37): Show 
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01258.hp2
HG01496.hp2
HG01516.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02056.hp1
HG02135.hp2
HG02293.hp2
HG02451.hp2
HG03239.hp1
HG03831.hp2
NA18747.hp1
NA18948.hp1
NA18949.hp2
NA18956.hp2
NA18959.hp1
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18985.hp1
NA18988.hp2
NA19001.hp2
NA19011.hp2
NA19012.hp2
NA19060.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.1279+10393delT
c.1279+10393delT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 INFO_REALIGN_3_PRIME chr20 13137108
chr20:13137309 C
C
 T
T
 6 a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0050g0101
others(3): Show 
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0050g0101
a0001c0001t0053g0250
a0001c0004t0014g0137
a0002c0002t0021g0065
 6 HG00280.hp2
HG01069.hp2
HG01358.hp1
others(3): Show 
HG00280.hp2
HG01069.hp2
HG01358.hp1
HG02602.hp1
HG03239.hp2
NA20752.hp1
 intron_variant MODIFIER c.1279+10592C>T
c.1279+10592C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13137309
chr20:13137511 T
T
 C
C
 4 a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0003g0133
others(1): Show 
a0001c0001t0002g0003
a0001c0001t0002g0031
a0001c0001t0003g0133
a0001c0004t0003g0174
 4 NA18944.hp1
NA19004.hp2
NA19068.hp2
others(1): Show 
NA18944.hp1
NA19004.hp2
NA19068.hp2
NA19074.hp1
 intron_variant MODIFIER c.1279+10794T>C
c.1279+10794T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13137511
chr20:13137615 C
C
 T
T
 2 a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0039g0121
a0001c0001t0057g0281
 2 HG01071.hp2
HG02015.hp2
HG01071.hp2
HG02015.hp2
 intron_variant MODIFIER c.1279+10898C>T
c.1279+10898C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13137615
chr20:13137703 C
C
 G
G
 4 a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0055g0287
others(1): Show 
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0055g0287
a0002c0002t0031g0001
 4 HG01168.hp1
HG01192.hp1
HG04115.hp2
others(1): Show 
HG01168.hp1
HG01192.hp1
HG04115.hp2
NA18948.hp2
 intron_variant MODIFIER c.1279+10986C>G
c.1279+10986C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13137703
chr20:13138254 A
A
 C
C
 54 a0001c0001t0059g0290
a0001c0003t0005g0109
a0001c0003t0005g0132
others(51): Show 
a0001c0001t0059g0290
a0001c0003t0005g0109
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0002g0027
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
 54 HG00642.hp2
HG00673.hp1
HG01069.hp1
others(51): Show 
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01106.hp2
HG01109.hp2
HG01258.hp2
HG01496.hp2
HG01516.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02056.hp1
HG02135.hp2
HG02280.hp1
HG02293.hp2
HG02451.hp2
HG02486.hp2
HG03195.hp1
HG03209.hp2
HG03239.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03540.hp2
HG03831.hp2
NA18522.hp1
NA18747.hp1
NA18948.hp1
NA18949.hp2
NA18956.hp2
NA18959.hp1
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18985.hp1
NA18988.hp2
NA19001.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19060.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA19240.hp2
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.1279+11537A>C
c.1279+11537A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13138254
chr20:13138378 C
C
 G
G
 4 a0001c0001t0016g0136
a0001c0004t0016g0091
a0002c0002t0016g0114
others(1): Show 
a0001c0001t0016g0136
a0001c0004t0016g0091
a0002c0002t0016g0114
a0002c0002t0035g0056
 4 HG00639.hp1
HG00738.hp2
HG01168.hp2
others(1): Show 
HG00639.hp1
HG00738.hp2
HG01168.hp2
HG01515.hp1
 intron_variant MODIFIER c.1279+11661C>G
c.1279+11661C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13138378
chr20:13138405 G
G
 A
A
 1 a0001c0005t0003g0085
a0001c0005t0003g0085
 1 HG01123.hp2
HG01123.hp2
 intron_variant MODIFIER c.1279+11688G>A
c.1279+11688G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13138405
chr20:13138407 T
T
 G
G
 14 a0001c0001t0059g0290
a0001c0003t0011g0082
a0001c0003t0011g0152
others(11): Show 
a0001c0001t0059g0290
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0058g0257
a0001c0009t0011g0161
 14 HG01106.hp2
HG01109.hp2
HG02280.hp1
others(11): Show 
HG01106.hp2
HG01109.hp2
HG02280.hp1
HG02486.hp2
HG03195.hp1
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03540.hp2
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA19240.hp2
 intron_variant MODIFIER c.1279+11690T>G
c.1279+11690T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13138407
chr20:13138458 A
A
 C
C
 4 a0001c0001t0001g0292
a0001c0001t0004g0226
a0001c0001t0004g0291
others(1): Show 
a0001c0001t0001g0292
a0001c0001t0004g0226
a0001c0001t0004g0291
a0002c0002t0001g0212
 4 HG02257.hp1
HG02922.hp1
HG03130.hp1
others(1): Show 
HG02257.hp1
HG02922.hp1
HG03130.hp1
HG03139.hp2
 intron_variant MODIFIER c.1279+11741A>C
c.1279+11741A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13138458
chr20:13138565 G
G
 C
C
 1 a0001c0001t0004g0266
a0001c0001t0004g0266
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.1279+11848G>C
c.1279+11848G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13138565
chr20:13138938 A
A
 C
C
 1 a0001c0001t0003g0142
a0001c0001t0003g0142
 1 NA18967.hp2
NA18967.hp2
 intron_variant MODIFIER c.1279+12221A>C
c.1279+12221A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13138938
chr20:13138952 A
A
 G
G
 3 a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0009g0151
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0009g0151
 3 HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02723.hp2
HG02896.hp1
HG02897.hp1
 intron_variant MODIFIER c.1279+12235A>G
c.1279+12235A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13138952
chr20:13138971 T
T
 C
C
 1 a0001c0001t0001g0187
a0001c0001t0001g0187
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.1279+12254T>C
c.1279+12254T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13138971
chr20:13139333 T
T
 G
G
 165 a0001c0001t0001g0052
a0001c0001t0001g0156
a0001c0001t0001g0158
others(162): Show 
a0001c0001t0001g0052
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0222
a0001c0001t0004g0226
a0001c0001t0004g0251
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0003t0005g0109
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0042g0184
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0016g0114
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0043g0193
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0008c0015t0002g0050
 165 HG00140.hp1
HG00323.hp2
HG00408.hp2
others(162): Show 
HG00140.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01258.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02809.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp2
HG03017.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18977.hp1
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA19001.hp2
NA19004.hp2
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19060.hp2
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.1279+12616T>G
c.1279+12616T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13139333
chr20:13139445 G
G
 A
A
 39 a0001c0003t0005g0109
a0001c0003t0005g0132
a0001c0003t0005g0168
others(36): Show 
a0001c0003t0005g0109
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0014t0005g0083
a0002c0002t0002g0027
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
 39 HG00642.hp2
HG00673.hp1
HG01069.hp1
others(36): Show 
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01258.hp2
HG01496.hp2
HG01516.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02056.hp1
HG02135.hp2
HG02293.hp2
HG03239.hp1
HG03831.hp2
NA18747.hp1
NA18948.hp1
NA18949.hp2
NA18956.hp2
NA18959.hp1
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18985.hp1
NA18988.hp2
NA19001.hp2
NA19011.hp2
NA19012.hp2
NA19060.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.1279+12728G>A
c.1279+12728G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13139445
chr20:13139468 C
C
 G
G
 1 a0001c0004t0017g0205
a0001c0004t0017g0205
 1 NA19012.hp1
NA19012.hp1
 intron_variant MODIFIER c.1279+12751C>G
c.1279+12751C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13139468
chr20:13139573 G
G
 T
T
 1 a0002c0002t0008g0018
a0002c0002t0008g0018
 1 HG00423.hp2
HG00423.hp2
 intron_variant MODIFIER c.1279+12856G>T
c.1279+12856G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13139573
chr20:13139912 G
G
 A
A
 1 a0002c0006t0006g0036
a0002c0006t0006g0036
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.1279+13195G>A
c.1279+13195G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13139912
chr20:13139949 G
G
 C
C
 4 a0001c0001t0016g0136
a0001c0004t0016g0091
a0002c0002t0016g0114
others(1): Show 
a0001c0001t0016g0136
a0001c0004t0016g0091
a0002c0002t0016g0114
a0002c0002t0035g0056
 4 HG00639.hp1
HG00738.hp2
HG01168.hp2
others(1): Show 
HG00639.hp1
HG00738.hp2
HG01168.hp2
HG01515.hp1
 intron_variant MODIFIER c.1279+13232G>C
c.1279+13232G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13139949
chr20:13140184 T
T
 C
C
 5 a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0054g0286
others(2): Show 
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0054g0286
a0001c0001t0055g0287
a0002c0002t0031g0001
 5 HG01168.hp1
HG01192.hp1
HG02258.hp2
others(2): Show 
HG01168.hp1
HG01192.hp1
HG02258.hp2
HG04115.hp2
NA18948.hp2
 intron_variant MODIFIER c.1279+13467T>C
c.1279+13467T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13140184
chr20:13140288 T
T
 C
C
 80 a0001c0001t0001g0052
a0001c0001t0001g0156
a0001c0001t0001g0158
others(77): Show 
a0001c0001t0001g0052
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0222
a0001c0001t0004g0226
a0001c0001t0004g0251
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0270
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0005t0003g0085
a0001c0005t0018g0084
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0034g0024
a0002c0002t0043g0193
a0002c0018t0002g0054
a0005c0010t0037g0167
a0008c0015t0002g0050
 80 HG00140.hp1
HG00323.hp2
HG00408.hp2
others(77): Show 
HG00140.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01123.hp2
HG01167.hp1
HG01192.hp2
HG01261.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02109.hp2
HG02135.hp1
HG02257.hp1
HG02293.hp1
HG02486.hp1
HG02630.hp1
HG02723.hp1
HG02809.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp2
HG03017.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03225.hp1
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03831.hp1
HG04204.hp2
HG04228.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18965.hp1
NA18967.hp2
NA18971.hp2
NA18973.hp2
NA18977.hp1
NA18981.hp1
NA18982.hp2
NA18990.hp1
NA19004.hp2
NA19010.hp2
NA19012.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19077.hp2
NA19086.hp1
NA19089.hp1
NA19091.hp2
NA20300.hp2
NA20805.hp1
 intron_variant MODIFIER c.1279+13571T>C
c.1279+13571T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13140288
chr20:13140355 G
G
 A
A
 3 a0001c0001t0039g0121
a0001c0001t0057g0281
a0002c0002t0002g0009
a0001c0001t0039g0121
a0001c0001t0057g0281
a0002c0002t0002g0009
 3 HG01071.hp2
HG02015.hp2
HG02071.hp2
HG01071.hp2
HG02015.hp2
HG02071.hp2
 intron_variant MODIFIER c.1279+13638G>A
c.1279+13638G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13140355
chr20:13140422 T
T
 C
C
 2 a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0039g0121
a0001c0001t0057g0281
 2 HG01071.hp2
HG02015.hp2
HG01071.hp2
HG02015.hp2
 intron_variant MODIFIER c.1280-13581T>C
c.1280-13581T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13140422
chr20:13140446 C
C
 T
T
 10 a0001c0001t0001g0096
a0001c0001t0001g0117
a0001c0001t0001g0173
others(7): Show 
a0001c0001t0001g0096
a0001c0001t0001g0117
a0001c0001t0001g0173
a0001c0001t0001g0187
a0001c0001t0001g0203
a0001c0001t0004g0242
a0001c0001t0004g0243
a0002c0002t0004g0254
a0002c0002t0008g0004
a0002c0002t0008g0012
 10 HG00609.hp1
HG02132.hp1
NA18944.hp2
others(7): Show 
HG00609.hp1
HG02132.hp1
NA18944.hp2
NA18945.hp2
NA18964.hp2
NA19000.hp1
NA19001.hp1
NA19057.hp2
NA19060.hp1
NA19091.hp1
 intron_variant MODIFIER c.1280-13557C>T
c.1280-13557C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13140446
chr20:13140645 T
T
 TA
TA
 60 a0001c0001t0016g0136
a0001c0001t0027g0263
a0001c0001t0027g0268
others(57): Show 
a0001c0001t0016g0136
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0059g0290
a0001c0003t0005g0109
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0004t0016g0091
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0002g0027
a0002c0002t0016g0114
a0002c0002t0035g0056
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
 60 HG00639.hp1
HG00642.hp2
HG00673.hp1
others(57): Show 
HG00639.hp1
HG00642.hp2
HG00673.hp1
HG00738.hp2
HG01069.hp1
HG01071.hp1
HG01106.hp2
HG01109.hp2
HG01168.hp2
HG01258.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02056.hp1
HG02135.hp2
HG02280.hp1
HG02293.hp2
HG02451.hp2
HG02486.hp2
HG02630.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp2
HG03239.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03540.hp2
HG03831.hp2
NA18522.hp1
NA18747.hp1
NA18948.hp1
NA18949.hp2
NA18956.hp2
NA18959.hp1
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18985.hp1
NA18988.hp2
NA19001.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19060.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA19240.hp2
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.1280-13351dupA
c.1280-13351dupA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 INFO_REALIGN_3_PRIME chr20 13140645
chr20:13141068 G
G
 A
A
 1 a0001c0004t0017g0205
a0001c0004t0017g0205
 1 NA19012.hp1
NA19012.hp1
 intron_variant MODIFIER c.1280-12935G>A
c.1280-12935G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13141068
chr20:13141487 C
C
 T
T
 2 a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0039g0121
a0001c0001t0057g0281
 2 HG01071.hp2
HG02015.hp2
HG01071.hp2
HG02015.hp2
 intron_variant MODIFIER c.1280-12516C>T
c.1280-12516C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13141487
chr20:13141696 C
C
 T
T
 1 a0002c0006t0006g0037
a0002c0006t0006g0037
 1 NA18956.hp2
NA18956.hp2
 intron_variant MODIFIER c.1280-12307C>T
c.1280-12307C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13141696
chr20:13141766 G
G
 C
C
 205 a0001c0001t0001g0052
a0001c0001t0001g0156
a0001c0001t0001g0158
others(202): Show 
a0001c0001t0001g0052
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0222
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0251
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0051g0075
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 205 HG00140.hp1
HG00280.hp1
HG00323.hp1
others(202): Show 
HG00140.hp1
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18977.hp1
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA19001.hp2
NA19004.hp2
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19060.hp2
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1280-12237G>C
c.1280-12237G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13141766
chr20:13141770 T
T
 C
C
 1 a0001c0003t0032g0022
a0001c0003t0032g0022
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.1280-12233T>C
c.1280-12233T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13141770
chr20:13141842 C
C
 A
A
 7 a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
others(4): Show 
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0012t0023g0165
a0005c0011t0023g0166
 7 HG01243.hp1
HG02055.hp2
HG02145.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02145.hp2
HG02451.hp1
HG02895.hp2
HG03471.hp1
NA18522.hp2
 intron_variant MODIFIER c.1280-12161C>A
c.1280-12161C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13141842
chr20:13141844 G
G
 A
A
 14 a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
others(11): Show 
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0033g0045
a0001c0001t0045g0163
a0001c0001t0056g0253
a0001c0004t0042g0184
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0048g0164
a0002c0002t0062g0280
 14 HG01255.hp1
HG02071.hp1
HG02145.hp1
others(11): Show 
HG01255.hp1
HG02071.hp1
HG02145.hp1
HG02257.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02647.hp1
HG03139.hp1
HG06807.hp1
NA18956.hp1
NA18990.hp2
NA19043.hp1
NA19086.hp2
 intron_variant MODIFIER c.1280-12159G>A
c.1280-12159G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13141844
chr20:13142270 A
A
 G
G
 89 a0001c0001t0001g0052
a0001c0001t0001g0156
a0001c0001t0001g0158
others(86): Show 
a0001c0001t0001g0052
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0222
a0001c0001t0004g0226
a0001c0001t0004g0251
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0044g0073
a0001c0001t0061g0274
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0005t0003g0085
a0001c0005t0018g0084
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0016g0114
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0043g0193
a0002c0018t0002g0054
a0005c0010t0037g0167
a0008c0015t0002g0050
 89 HG00140.hp1
HG00323.hp2
HG00408.hp2
others(86): Show 
HG00140.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01123.hp2
HG01167.hp1
HG01168.hp2
HG01192.hp2
HG01261.hp2
HG01433.hp2
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02109.hp2
HG02135.hp1
HG02257.hp1
HG02293.hp1
HG02486.hp1
HG02630.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp2
HG03017.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03225.hp1
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03831.hp1
HG04204.hp2
HG04228.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18965.hp1
NA18967.hp2
NA18970.hp2
NA18971.hp2
NA18973.hp2
NA18977.hp1
NA18981.hp1
NA18982.hp2
NA18990.hp1
NA19004.hp2
NA19010.hp2
NA19012.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19077.hp2
NA19086.hp1
NA19089.hp1
NA19091.hp2
NA20300.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.1280-11733A>G
c.1280-11733A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13142270
chr20:13142469 T
T
 C
C
 1 a0006c0016t0064g0248
a0006c0016t0064g0248
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.1280-11534T>C
c.1280-11534T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13142469
chr20:13142698 C
C
 A
A
 1 a0002c0006t0006g0016
a0002c0006t0006g0016
 1 NA18971.hp1
NA18971.hp1
 intron_variant MODIFIER c.1280-11305C>A
c.1280-11305C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13142698
chr20:13142877 C
C
 T
T
 4 a0001c0001t0001g0203
a0001c0001t0004g0242
a0001c0001t0004g0243
others(1): Show 
a0001c0001t0001g0203
a0001c0001t0004g0242
a0001c0001t0004g0243
a0002c0002t0004g0254
 4 NA18944.hp2
NA19000.hp1
NA19001.hp1
others(1): Show 
NA18944.hp2
NA19000.hp1
NA19001.hp1
NA19057.hp2
 intron_variant MODIFIER c.1280-11126C>T
c.1280-11126C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13142877
chr20:13142907 CCT
CCT
 C
C
 20 a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
others(17): Show 
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0045g0163
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0004t0042g0184
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0048g0164
a0002c0002t0031g0001
a0002c0002t0062g0280
 20 HG01168.hp1
HG01192.hp1
HG01255.hp1
others(17): Show 
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG02071.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02647.hp1
HG03139.hp1
HG04115.hp2
HG06807.hp1
NA18948.hp2
NA18956.hp1
NA18990.hp2
NA19043.hp1
NA19086.hp2
 intron_variant MODIFIER c.1280-11083_1280-11
others(8): Show 
c.1280-11083_1280-11082delCT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 INFO_REALIGN_3_PRIME chr20 13142907
chr20:13142993 C
C
 G
G
 1 a0002c0002t0043g0193
a0002c0002t0043g0193
 1 NA18954.hp2
NA18954.hp2
 intron_variant MODIFIER c.1280-11010C>G
c.1280-11010C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13142993
chr20:13143086 T
T
 G
G
 40 a0001c0003t0005g0109
a0001c0003t0005g0132
a0001c0003t0005g0168
others(37): Show 
a0001c0003t0005g0109
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0014t0005g0083
a0002c0002t0002g0027
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
 40 HG00642.hp2
HG00673.hp1
HG01069.hp1
others(37): Show 
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01258.hp2
HG01496.hp2
HG01516.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02056.hp1
HG02135.hp2
HG02293.hp2
HG02451.hp2
HG03239.hp1
HG03831.hp2
NA18747.hp1
NA18948.hp1
NA18949.hp2
NA18956.hp2
NA18959.hp1
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18985.hp1
NA18988.hp2
NA19001.hp2
NA19011.hp2
NA19012.hp2
NA19060.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.1280-10917T>G
c.1280-10917T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13143086
chr20:13143162 G
G
 C
C
 1 a0001c0001t0027g0268
a0001c0001t0027g0268
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.1280-10841G>C
c.1280-10841G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13143162
chr20:13143176 A
A
 G
G
 1 a0001c0001t0014g0074
a0001c0001t0014g0074
 1 HG01515.hp2
HG01515.hp2
 intron_variant MODIFIER c.1280-10827A>G
c.1280-10827A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13143176
chr20:13143188 G
G
 T
T
 63 a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
others(60): Show 
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0251
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0005t0003g0085
a0001c0005t0018g0084
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0034g0024
a0002c0002t0043g0193
a0002c0018t0002g0054
a0005c0010t0037g0167
a0008c0015t0002g0050
 63 HG00140.hp1
HG00323.hp2
HG00408.hp2
others(60): Show 
HG00140.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01123.hp2
HG01167.hp1
HG01192.hp2
HG01261.hp2
HG01433.hp2
HG01884.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02135.hp1
HG02293.hp1
HG03017.hp2
HG03491.hp2
HG03516.hp1
HG03831.hp1
HG04204.hp2
HG04228.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18965.hp1
NA18967.hp2
NA18970.hp2
NA18971.hp2
NA18973.hp2
NA18977.hp1
NA18981.hp1
NA18982.hp2
NA18990.hp1
NA19004.hp2
NA19010.hp2
NA19012.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19077.hp2
NA19086.hp1
NA19089.hp1
NA19091.hp2
NA20300.hp2
 intron_variant MODIFIER c.1280-10815G>T
c.1280-10815G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13143188
chr20:13143272 G
G
 A
A
 2 a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0039g0121
a0001c0001t0057g0281
 2 HG01071.hp2
HG02015.hp2
HG01071.hp2
HG02015.hp2
 intron_variant MODIFIER c.1280-10731G>A
c.1280-10731G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13143272
chr20:13143621 C
C
 A
A
 1 a0001c0005t0001g0080
a0001c0005t0001g0080
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.1280-10382C>A
c.1280-10382C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13143621
chr20:13143742 G
G
 A
A
 1 a0001c0001t0003g0157
a0001c0001t0003g0157
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.1280-10261G>A
c.1280-10261G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13143742
chr20:13143953 T
T
 C
C
 80 a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
others(77): Show 
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0016g0136
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0033g0045
a0001c0001t0045g0163
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0059g0290
a0001c0003t0005g0109
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0004t0016g0091
a0001c0004t0042g0184
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0002g0027
a0002c0002t0016g0114
a0002c0002t0031g0001
a0002c0002t0035g0056
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
 80 HG00639.hp1
HG00642.hp2
HG00673.hp1
others(77): Show 
HG00639.hp1
HG00642.hp2
HG00673.hp1
HG00738.hp2
HG01069.hp1
HG01071.hp1
HG01106.hp2
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01258.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02056.hp1
HG02071.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG03041.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03239.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03540.hp2
HG03831.hp2
HG04115.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18985.hp1
NA18988.hp2
NA18990.hp2
NA19001.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19060.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA19086.hp2
NA19240.hp2
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.1280-10050T>C
c.1280-10050T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13143953
chr20:13144342 C
C
 A
A
 1 a0002c0002t0031g0001
a0002c0002t0031g0001
 1 NA18948.hp2
NA18948.hp2
 intron_variant MODIFIER c.1280-9661C>A
c.1280-9661C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13144342
chr20:13144529 C
C
 G
G
 7 a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
others(4): Show 
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0012t0023g0165
a0005c0011t0023g0166
 7 HG01243.hp1
HG02055.hp2
HG02145.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02145.hp2
HG02451.hp1
HG02895.hp2
HG03471.hp1
NA18522.hp2
 intron_variant MODIFIER c.1280-9474C>G
c.1280-9474C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13144529
chr20:13144620 C
C
 T
T
 14 a0001c0001t0059g0290
a0001c0003t0011g0082
a0001c0003t0011g0152
others(11): Show 
a0001c0001t0059g0290
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0058g0257
a0001c0009t0011g0161
 14 HG01106.hp2
HG01109.hp2
HG02280.hp1
others(11): Show 
HG01106.hp2
HG01109.hp2
HG02280.hp1
HG02486.hp2
HG03195.hp1
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03540.hp2
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA19240.hp2
 intron_variant MODIFIER c.1280-9383C>T
c.1280-9383C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13144620
chr20:13144627 T
T
 G
G
 206 a0001c0001t0001g0052
a0001c0001t0001g0156
a0001c0001t0001g0158
others(203): Show 
a0001c0001t0001g0052
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0222
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0251
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0051g0075
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 206 HG00140.hp1
HG00280.hp1
HG00323.hp1
others(203): Show 
HG00140.hp1
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02738.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18977.hp1
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA19001.hp2
NA19004.hp2
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19060.hp2
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1280-9376T>G
c.1280-9376T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13144627
chr20:13144750 A
A
 G
G
 1 a0001c0001t0055g0287
a0001c0001t0055g0287
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.1280-9253A>G
c.1280-9253A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13144750
chr20:13144753 ATG
ATG
 A
A
 286 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(283): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 286 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(283): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1280-9236_1280-923
others(6): Show 
c.1280-9236_1280-9235delGT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 INFO_REALIGN_3_PRIME chr20 13144753
chr20:13144767 G
G
 A
A
 3 a0001c0001t0003g0113
a0001c0001t0003g0131
a0002c0002t0003g0197
a0001c0001t0003g0113
a0001c0001t0003g0131
a0002c0002t0003g0197
 3 NA18960.hp1
NA18971.hp2
NA18982.hp2
NA18960.hp1
NA18971.hp2
NA18982.hp2
 intron_variant MODIFIER c.1280-9236G>A
c.1280-9236G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13144767
chr20:13144814 G
G
 A
A
 1 a0001c0003t0060g0267
a0001c0003t0060g0267
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.1280-9189G>A
c.1280-9189G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13144814
chr20:13144836 G
G
 A
A
 1 a0001c0001t0056g0253
a0001c0001t0056g0253
 1 NA18956.hp1
NA18956.hp1
 intron_variant MODIFIER c.1280-9167G>A
c.1280-9167G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13144836
chr20:13144974 A
A
 G
G
 6 a0001c0001t0059g0290
a0001c0003t0011g0155
a0001c0003t0011g0162
others(3): Show 
a0001c0001t0059g0290
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
 6 HG03209.hp2
HG03471.hp2
HG03486.hp1
others(3): Show 
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG03540.hp1
NA19030.hp1
NA19240.hp2
 intron_variant MODIFIER c.1280-9029A>G
c.1280-9029A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13144974
chr20:13145239 C
C
 T
T
 1 a0001c0001t0001g0052
a0001c0001t0001g0052
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.1280-8764C>T
c.1280-8764C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13145239
chr20:13145590 G
G
 T
T
 2 a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0039g0121
a0001c0001t0057g0281
 2 HG01071.hp2
HG02015.hp2
HG01071.hp2
HG02015.hp2
 intron_variant MODIFIER c.1280-8413G>T
c.1280-8413G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13145590
chr20:13145733 C
C
 T
T
 2 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0149
a0001c0001t0001g0150
 2 HG02965.hp1
HG03516.hp2
HG02965.hp1
HG03516.hp2
 intron_variant MODIFIER c.1280-8270C>T
c.1280-8270C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13145733
chr20:13145776 T
T
 G
G
 3 a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
 3 HG03654.hp2
HG03669.hp1
HG04199.hp2
HG03654.hp2
HG03669.hp1
HG04199.hp2
 intron_variant MODIFIER c.1280-8227T>G
c.1280-8227T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13145776
chr20:13145923 T
T
 C
C
 2 a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0039g0121
a0001c0001t0057g0281
 2 HG01071.hp2
HG02015.hp2
HG01071.hp2
HG02015.hp2
 intron_variant MODIFIER c.1280-8080T>C
c.1280-8080T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13145923
chr20:13146067 C
C
 T
T
 1 a0001c0004t0017g0201
a0001c0004t0017g0201
 1 HG03491.hp2
HG03491.hp2
 intron_variant MODIFIER c.1280-7936C>T
c.1280-7936C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13146067
chr20:13146152 C
C
 A
A
 2 a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0039g0121
a0001c0001t0057g0281
 2 HG01071.hp2
HG02015.hp2
HG01071.hp2
HG02015.hp2
 intron_variant MODIFIER c.1280-7851C>A
c.1280-7851C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13146152
chr20:13146378 C
C
 T
T
 1 a0002c0002t0007g0260
a0002c0002t0007g0260
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.1280-7625C>T
c.1280-7625C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13146378
chr20:13146618 A
A
 G
G
 1 a0001c0001t0001g0118
a0001c0001t0001g0118
 1 NA18959.hp2
NA18959.hp2
 intron_variant MODIFIER c.1280-7385A>G
c.1280-7385A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13146618
chr20:13146800 C
C
 T
T
 5 a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
others(2): Show 
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
 5 HG03209.hp2
HG03471.hp2
HG03486.hp1
others(2): Show 
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.1280-7203C>T
c.1280-7203C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13146800
chr20:13147150 C
C
 A
A
 7 a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
others(4): Show 
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0012t0023g0165
a0005c0011t0023g0166
 7 HG01243.hp1
HG02055.hp2
HG02145.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02145.hp2
HG02451.hp1
HG02895.hp2
HG03471.hp1
NA18522.hp2
 intron_variant MODIFIER c.1280-6853C>A
c.1280-6853C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13147150
chr20:13147462 G
G
 A
A
 1 a0001c0001t0045g0163
a0001c0001t0045g0163
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.1280-6541G>A
c.1280-6541G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13147462
chr20:13147520 C
C
 G
G
 1 a0001c0001t0014g0074
a0001c0001t0014g0074
 1 HG01515.hp2
HG01515.hp2
 intron_variant MODIFIER c.1280-6483C>G
c.1280-6483C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13147520
chr20:13147626 T
T
 A
A
 1 a0001c0001t0057g0281
a0001c0001t0057g0281
 1 HG02015.hp2
HG02015.hp2
 intron_variant MODIFIER c.1280-6377T>A
c.1280-6377T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13147626
chr20:13147713 C
C
 T
T
 2 a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0039g0121
a0001c0001t0057g0281
 2 HG01071.hp2
HG02015.hp2
HG01071.hp2
HG02015.hp2
 intron_variant MODIFIER c.1280-6290C>T
c.1280-6290C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13147713
chr20:13147739 G
G
 A
A
 1 a0001c0004t0003g0094
a0001c0004t0003g0094
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.1280-6264G>A
c.1280-6264G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13147739
chr20:13147795 C
C
 T
T
 6 a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0100
others(3): Show 
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0004g0273
a0001c0001t0008g0035
a0002c0002t0004g0255
 6 HG00408.hp1
HG00621.hp2
HG02056.hp2
others(3): Show 
HG00408.hp1
HG00621.hp2
HG02056.hp2
HG02155.hp2
NA18954.hp1
NA18970.hp1
 intron_variant MODIFIER c.1280-6208C>T
c.1280-6208C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13147795
chr20:13147928 T
T
 G
G
 90 a0001c0001t0001g0052
a0001c0001t0001g0156
a0001c0001t0001g0158
others(87): Show 
a0001c0001t0001g0052
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0222
a0001c0001t0004g0226
a0001c0001t0004g0251
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0044g0073
a0001c0001t0061g0274
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0005t0003g0085
a0001c0005t0018g0084
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0016g0114
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0043g0193
a0002c0018t0002g0054
a0005c0010t0037g0167
a0008c0015t0002g0050
 90 HG00140.hp1
HG00323.hp2
HG00408.hp2
others(87): Show 
HG00140.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01123.hp2
HG01167.hp1
HG01168.hp2
HG01192.hp2
HG01261.hp2
HG01433.hp2
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02109.hp2
HG02135.hp1
HG02257.hp1
HG02293.hp1
HG02486.hp1
HG02630.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp2
HG03017.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03225.hp1
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03831.hp1
HG04204.hp2
HG04228.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18965.hp1
NA18967.hp2
NA18970.hp2
NA18971.hp2
NA18973.hp2
NA18977.hp1
NA18981.hp1
NA18982.hp2
NA18990.hp1
NA19004.hp2
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19077.hp2
NA19086.hp1
NA19089.hp1
NA19091.hp2
NA20300.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.1280-6075T>G
c.1280-6075T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13147928
chr20:13148028 A
A
 G
G
 2 a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0039g0121
a0001c0001t0057g0281
 2 HG01071.hp2
HG02015.hp2
HG01071.hp2
HG02015.hp2
 intron_variant MODIFIER c.1280-5975A>G
c.1280-5975A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13148028
chr20:13148106 G
G
 A
A
 2 a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0039g0121
a0001c0001t0057g0281
 2 HG01071.hp2
HG02015.hp2
HG01071.hp2
HG02015.hp2
 intron_variant MODIFIER c.1280-5897G>A
c.1280-5897G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13148106
chr20:13148127 G
G
 A
A
 1 a0001c0001t0038g0189
a0001c0001t0038g0189
 1 NA19066.hp2
NA19066.hp2
 intron_variant MODIFIER c.1280-5876G>A
c.1280-5876G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13148127
chr20:13148163 G
G
 C
C
 3 a0001c0001t0005g0128
a0001c0001t0010g0215
a0001c0005t0005g0069
a0001c0001t0005g0128
a0001c0001t0010g0215
a0001c0005t0005g0069
 3 HG01255.hp1
HG02559.hp1
HG06807.hp1
HG01255.hp1
HG02559.hp1
HG06807.hp1
 intron_variant MODIFIER c.1280-5840G>C
c.1280-5840G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13148163
chr20:13148247 CT
CT
 C
C
 4 a0001c0001t0016g0136
a0001c0004t0016g0091
a0002c0002t0016g0114
others(1): Show 
a0001c0001t0016g0136
a0001c0004t0016g0091
a0002c0002t0016g0114
a0002c0002t0035g0056
 4 HG00639.hp1
HG00738.hp2
HG01168.hp2
others(1): Show 
HG00639.hp1
HG00738.hp2
HG01168.hp2
HG01515.hp1
 intron_variant MODIFIER c.1280-5755delT
c.1280-5755delT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13148247
chr20:13148953 C
C
 T
T
 2 a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0039g0121
a0001c0001t0057g0281
 2 HG01071.hp2
HG02015.hp2
HG01071.hp2
HG02015.hp2
 intron_variant MODIFIER c.1280-5050C>T
c.1280-5050C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13148953
chr20:13149190 T
T
 C
C
 2 a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0039g0121
a0001c0001t0057g0281
 2 HG01071.hp2
HG02015.hp2
HG01071.hp2
HG02015.hp2
 intron_variant MODIFIER c.1280-4813T>C
c.1280-4813T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13149190
chr20:13149239 T
T
 C
C
 1 a0001c0005t0047g0068
a0001c0005t0047g0068
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.1280-4764T>C
c.1280-4764T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13149239
chr20:13149441 G
G
 A
A
 2 a0001c0001t0056g0253
a0002c0002t0062g0280
a0001c0001t0056g0253
a0002c0002t0062g0280
 2 NA18956.hp1
NA18990.hp2
NA18956.hp1
NA18990.hp2
 intron_variant MODIFIER c.1280-4562G>A
c.1280-4562G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13149441
chr20:13149449 G
G
 T
T
 196 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0002g0003
others(193): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0229
a0001c0001t0004g0251
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0051g0075
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 196 HG00140.hp1
HG00280.hp1
HG00323.hp1
others(193): Show 
HG00140.hp1
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02738.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18977.hp1
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA19004.hp2
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19060.hp2
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1280-4554G>T
c.1280-4554G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13149449
chr20:13149554 C
C
 T
T
 1 a0001c0003t0058g0257
a0001c0003t0058g0257
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.1280-4449C>T
c.1280-4449C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13149554
chr20:13149757 G
G
 A
A
 2 a0001c0001t0002g0031
a0001c0001t0003g0133
a0001c0001t0002g0031
a0001c0001t0003g0133
 2 NA19004.hp2
NA19068.hp2
NA19004.hp2
NA19068.hp2
 intron_variant MODIFIER c.1280-4246G>A
c.1280-4246G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13149757
chr20:13149758 G
G
 A
A
 1 a0002c0002t0001g0102
a0002c0002t0001g0102
 1 HG02015.hp1
HG02015.hp1
 intron_variant MODIFIER c.1280-4245G>A
c.1280-4245G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13149758
chr20:13149872 G
G
 T
T
 2 a0001c0001t0063g0232
a0001c0005t0048g0164
a0001c0001t0063g0232
a0001c0005t0048g0164
 2 HG03139.hp1
NA19043.hp2
HG03139.hp1
NA19043.hp2
 intron_variant MODIFIER c.1280-4131G>T
c.1280-4131G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13149872
chr20:13149898 G
G
 A
A
 1 a0003c0007t0006g0063
a0003c0007t0006g0063
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.1280-4105G>A
c.1280-4105G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13149898
chr20:13150023 A
A
 C
C
 3 a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
 3 HG03654.hp2
HG03669.hp1
HG04199.hp2
HG03654.hp2
HG03669.hp1
HG04199.hp2
 intron_variant MODIFIER c.1280-3980A>C
c.1280-3980A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13150023
chr20:13150034 T
T
 C
C
 6 a0001c0001t0016g0136
a0001c0001t0027g0263
a0001c0001t0027g0268
others(3): Show 
a0001c0001t0016g0136
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0004t0016g0091
a0002c0002t0016g0114
a0002c0002t0035g0056
 6 HG00639.hp1
HG00738.hp2
HG01168.hp2
others(3): Show 
HG00639.hp1
HG00738.hp2
HG01168.hp2
HG01515.hp1
HG02630.hp2
HG03041.hp2
 intron_variant MODIFIER c.1280-3969T>C
c.1280-3969T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13150034
chr20:13150040 C
C
 T
T
 2 a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0039g0121
a0001c0001t0057g0281
 2 HG01071.hp2
HG02015.hp2
HG01071.hp2
HG02015.hp2
 intron_variant MODIFIER c.1280-3963C>T
c.1280-3963C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13150040
chr20:13150200 T
T
 G
G
 1 a0002c0002t0001g0199
a0002c0002t0001g0199
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.1280-3803T>G
c.1280-3803T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13150200
chr20:13150215 T
T
 C
C
 3 a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0059g0290
 3 HG01071.hp2
HG02015.hp2
NA19030.hp1
HG01071.hp2
HG02015.hp2
NA19030.hp1
 intron_variant MODIFIER c.1280-3788T>C
c.1280-3788T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13150215
chr20:13150230 G
G
 A
A
 1 a0001c0001t0014g0074
a0001c0001t0014g0074
 1 HG01515.hp2
HG01515.hp2
 intron_variant MODIFIER c.1280-3773G>A
c.1280-3773G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13150230
chr20:13150288 C
C
 T
T
 19 a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
others(16): Show 
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0045g0163
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0004t0042g0184
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0016g0147
a0002c0002t0031g0001
a0002c0002t0062g0280
 19 HG01168.hp1
HG01192.hp1
HG01255.hp1
others(16): Show 
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG02071.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02647.hp1
HG04115.hp2
HG06807.hp1
NA18948.hp2
NA18956.hp1
NA18990.hp2
NA19043.hp1
NA19086.hp2
 intron_variant MODIFIER c.1280-3715C>T
c.1280-3715C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13150288
chr20:13150431 G
G
 T
T
 72 a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
others(69): Show 
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0251
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0005t0018g0084
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0034g0024
a0002c0002t0043g0193
a0002c0018t0002g0054
a0005c0010t0037g0167
a0008c0015t0002g0050
 72 HG00140.hp1
HG00323.hp2
HG00408.hp2
others(69): Show 
HG00140.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01167.hp1
HG01192.hp2
HG01261.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02109.hp2
HG02135.hp1
HG02293.hp1
HG02486.hp1
HG02723.hp1
HG03017.hp2
HG03130.hp2
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03831.hp1
HG04204.hp2
HG04228.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18965.hp1
NA18967.hp2
NA18970.hp2
NA18971.hp2
NA18973.hp2
NA18977.hp1
NA18981.hp1
NA18982.hp2
NA18990.hp1
NA19004.hp2
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19077.hp2
NA19086.hp1
NA19089.hp1
NA19091.hp2
NA20300.hp2
NA20805.hp1
 intron_variant MODIFIER c.1280-3572G>T
c.1280-3572G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13150431
chr20:13150460 T
T
 C
C
 5 a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0054g0286
others(2): Show 
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0054g0286
a0001c0001t0055g0287
a0002c0002t0031g0001
 5 HG01168.hp1
HG01192.hp1
HG02258.hp2
others(2): Show 
HG01168.hp1
HG01192.hp1
HG02258.hp2
HG04115.hp2
NA18948.hp2
 intron_variant MODIFIER c.1280-3543T>C
c.1280-3543T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13150460
chr20:13150461 A
A
 G
G
 75 a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
others(72): Show 
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0251
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0044g0073
a0001c0001t0061g0274
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0005t0003g0085
a0001c0005t0018g0084
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0034g0024
a0002c0002t0043g0193
a0002c0018t0002g0054
a0005c0010t0037g0167
a0008c0015t0002g0050
 75 HG00140.hp1
HG00323.hp2
HG00408.hp2
others(72): Show 
HG00140.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01123.hp2
HG01167.hp1
HG01192.hp2
HG01261.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02109.hp2
HG02135.hp1
HG02293.hp1
HG02486.hp1
HG02723.hp1
HG03017.hp2
HG03130.hp2
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03831.hp1
HG04204.hp2
HG04228.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18965.hp1
NA18967.hp2
NA18970.hp2
NA18971.hp2
NA18973.hp2
NA18977.hp1
NA18981.hp1
NA18982.hp2
NA18990.hp1
NA19004.hp2
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19077.hp2
NA19086.hp1
NA19089.hp1
NA19091.hp2
NA20300.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.1280-3542A>G
c.1280-3542A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13150461
chr20:13150520 C
C
 A
A
 1 a0001c0003t0060g0267
a0001c0003t0060g0267
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.1280-3483C>A
c.1280-3483C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13150520
chr20:13150532 G
G
 A
A
 3 a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
 3 HG03654.hp2
HG03669.hp1
HG04199.hp2
HG03654.hp2
HG03669.hp1
HG04199.hp2
 intron_variant MODIFIER c.1280-3471G>A
c.1280-3471G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13150532
chr20:13150584 C
C
 T
T
 4 a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0004g0222
others(1): Show 
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0004g0222
a0001c0001t0004g0288
 4 HG02630.hp1
HG02809.hp1
HG02896.hp2
others(1): Show 
HG02630.hp1
HG02809.hp1
HG02896.hp2
HG02965.hp2
 intron_variant MODIFIER c.1280-3419C>T
c.1280-3419C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13150584
chr20:13151003 A
A
 C
C
 20 a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
others(17): Show 
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0045g0163
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0016g0147
a0002c0002t0031g0001
a0002c0002t0062g0280
 20 HG01168.hp1
HG01192.hp1
HG01255.hp1
others(17): Show 
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG02071.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02647.hp1
HG03017.hp1
HG04115.hp2
HG06807.hp1
NA18948.hp2
NA18956.hp1
NA18990.hp2
NA19043.hp1
NA19086.hp2
 intron_variant MODIFIER c.1280-3000A>C
c.1280-3000A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13151003
chr20:13151151 C
C
 A
A
 3 a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0059g0290
 3 HG01071.hp2
HG02015.hp2
NA19030.hp1
HG01071.hp2
HG02015.hp2
NA19030.hp1
 intron_variant MODIFIER c.1280-2852C>A
c.1280-2852C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13151151
chr20:13151177 C
C
 G
G
 1 a0001c0005t0004g0244
a0001c0005t0004g0244
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.1280-2826C>G
c.1280-2826C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13151177
chr20:13151468 G
G
 A
A
 20 a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
others(17): Show 
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0045g0163
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0016g0147
a0002c0002t0031g0001
a0002c0002t0062g0280
 20 HG01168.hp1
HG01192.hp1
HG01255.hp1
others(17): Show 
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG02071.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02647.hp1
HG03017.hp1
HG04115.hp2
HG06807.hp1
NA18948.hp2
NA18956.hp1
NA18990.hp2
NA19043.hp1
NA19086.hp2
 intron_variant MODIFIER c.1280-2535G>A
c.1280-2535G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13151468
chr20:13151515 G
G
 A
A
 1 a0002c0002t0008g0017
a0002c0002t0008g0017
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.1280-2488G>A
c.1280-2488G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13151515
chr20:13151646 A
A
 G
G
 5 a0001c0003t0028g0249
a0002c0006t0005g0191
a0002c0006t0005g0194
others(2): Show 
a0001c0003t0028g0249
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0037
 5 NA18949.hp2
NA18956.hp2
NA18964.hp1
others(2): Show 
NA18949.hp2
NA18956.hp2
NA18964.hp1
NA18965.hp2
NA19068.hp1
 intron_variant MODIFIER c.1280-2357A>G
c.1280-2357A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13151646
chr20:13151853 A
A
 T
T
 3 a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0059g0290
 3 HG01071.hp2
HG02015.hp2
NA19030.hp1
HG01071.hp2
HG02015.hp2
NA19030.hp1
 intron_variant MODIFIER c.1280-2150A>T
c.1280-2150A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13151853
chr20:13151991 A
A
 T
T
 2 a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0227
a0001c0005t0004g0235
 2 HG02896.hp1
HG02897.hp1
HG02896.hp1
HG02897.hp1
 intron_variant MODIFIER c.1280-2012A>T
c.1280-2012A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13151991
chr20:13152142 A
A
 G
G
 20 a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
others(17): Show 
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0045g0163
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0016g0147
a0002c0002t0031g0001
a0002c0002t0062g0280
 20 HG01168.hp1
HG01192.hp1
HG01255.hp1
others(17): Show 
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG02071.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02647.hp1
HG03017.hp1
HG04115.hp2
HG06807.hp1
NA18948.hp2
NA18956.hp1
NA18990.hp2
NA19043.hp1
NA19086.hp2
 intron_variant MODIFIER c.1280-1861A>G
c.1280-1861A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13152142
chr20:13152164 A
A
 G
G
 75 a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
others(72): Show 
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0251
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0044g0073
a0001c0001t0061g0274
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0005t0003g0085
a0001c0005t0018g0084
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0034g0024
a0002c0002t0043g0193
a0002c0018t0002g0054
a0005c0010t0037g0167
a0008c0015t0002g0050
 75 HG00140.hp1
HG00323.hp2
HG00408.hp2
others(72): Show 
HG00140.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01123.hp2
HG01167.hp1
HG01192.hp2
HG01261.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02109.hp2
HG02135.hp1
HG02293.hp1
HG02486.hp1
HG02723.hp1
HG03017.hp2
HG03130.hp2
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03831.hp1
HG04204.hp2
HG04228.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18965.hp1
NA18967.hp2
NA18970.hp2
NA18971.hp2
NA18973.hp2
NA18977.hp1
NA18981.hp1
NA18982.hp2
NA18990.hp1
NA19004.hp2
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19077.hp2
NA19086.hp1
NA19089.hp1
NA19091.hp2
NA20300.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.1280-1839A>G
c.1280-1839A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13152164
chr20:13152319 C
C
 G
G
 1 a0002c0002t0008g0012
a0002c0002t0008g0012
 1 NA19091.hp1
NA19091.hp1
 intron_variant MODIFIER c.1280-1684C>G
c.1280-1684C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13152319
chr20:13152320 G
G
 A
A
 20 a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
others(17): Show 
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0045g0163
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0016g0147
a0002c0002t0031g0001
a0002c0002t0062g0280
 20 HG01168.hp1
HG01192.hp1
HG01255.hp1
others(17): Show 
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG02071.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02647.hp1
HG03017.hp1
HG04115.hp2
HG06807.hp1
NA18948.hp2
NA18956.hp1
NA18990.hp2
NA19043.hp1
NA19086.hp2
 intron_variant MODIFIER c.1280-1683G>A
c.1280-1683G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13152320
chr20:13152512 G
G
 A
A
 4 a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0059g0290
others(1): Show 
a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0003t0005g0183
 4 HG01071.hp2
HG02015.hp2
NA19001.hp2
others(1): Show 
HG01071.hp2
HG02015.hp2
NA19001.hp2
NA19030.hp1
 intron_variant MODIFIER c.1280-1491G>A
c.1280-1491G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13152512
chr20:13152801 C
C
 T
T
 1 a0001c0001t0039g0121
a0001c0001t0039g0121
 1 HG01071.hp2
HG01071.hp2
 intron_variant MODIFIER c.1280-1202C>T
c.1280-1202C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13152801
chr20:13152818 T
T
 C
C
 2 a0001c0001t0003g0135
a0002c0002t0002g0009
a0001c0001t0003g0135
a0002c0002t0002g0009
 2 HG00609.hp2
HG02071.hp2
HG00609.hp2
HG02071.hp2
 intron_variant MODIFIER c.1280-1185T>C
c.1280-1185T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13152818
chr20:13152963 C
C
 T
T
 1 a0001c0001t0009g0148
a0001c0001t0009g0148
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.1280-1040C>T
c.1280-1040C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13152963
chr20:13152982 G
G
 A
A
 2 a0002c0002t0002g0007
a0002c0002t0002g0026
a0002c0002t0002g0007
a0002c0002t0002g0026
 2 HG02074.hp1
NA19057.hp1
HG02074.hp1
NA19057.hp1
 intron_variant MODIFIER c.1280-1021G>A
c.1280-1021G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13152982
chr20:13153264 G
G
 A
A
 3 a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0059g0290
 3 HG01071.hp2
HG02015.hp2
NA19030.hp1
HG01071.hp2
HG02015.hp2
NA19030.hp1
 intron_variant MODIFIER c.1280-739G>A
c.1280-739G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13153264
chr20:13153300 G
G
 A
A
 3 a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0059g0290
 3 HG01071.hp2
HG02015.hp2
NA19030.hp1
HG01071.hp2
HG02015.hp2
NA19030.hp1
 intron_variant MODIFIER c.1280-703G>A
c.1280-703G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13153300
chr20:13153307 G
G
 A
A
 23 a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
others(20): Show 
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0016g0147
a0002c0002t0031g0001
a0002c0002t0062g0280
 23 HG01071.hp2
HG01168.hp1
HG01192.hp1
others(20): Show 
HG01071.hp2
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG02015.hp2
HG02071.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02647.hp1
HG03017.hp1
HG04115.hp2
HG06807.hp1
NA18948.hp2
NA18956.hp1
NA18990.hp2
NA19030.hp1
NA19043.hp1
NA19086.hp2
 intron_variant MODIFIER c.1280-696G>A
c.1280-696G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13153307
chr20:13153587 G
G
 A
A
 1 a0001c0001t0003g0070
a0001c0001t0003g0070
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1280-416G>A
c.1280-416G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13153587
chr20:13153655 A
A
 G
G
 1 a0001c0004t0003g0175
a0001c0004t0003g0175
 1 NA18957.hp1
NA18957.hp1
 intron_variant MODIFIER c.1280-348A>G
c.1280-348A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13153655
chr20:13153816 T
T
 C
C
 23 a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
others(20): Show 
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0016g0147
a0002c0002t0031g0001
a0002c0002t0062g0280
 23 HG01071.hp2
HG01168.hp1
HG01192.hp1
others(20): Show 
HG01071.hp2
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG02015.hp2
HG02071.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02647.hp1
HG03017.hp1
HG04115.hp2
HG06807.hp1
NA18948.hp2
NA18956.hp1
NA18990.hp2
NA19030.hp1
NA19043.hp1
NA19086.hp2
 intron_variant MODIFIER c.1280-187T>C
c.1280-187T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13153816
chr20:13153823 T
T
 C
C
 73 a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
others(70): Show 
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0251
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0005t0003g0085
a0001c0005t0018g0084
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0034g0024
a0002c0002t0043g0193
a0002c0018t0002g0054
a0005c0010t0037g0167
a0008c0015t0002g0050
 73 HG00140.hp1
HG00323.hp2
HG00408.hp2
others(70): Show 
HG00140.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01123.hp2
HG01167.hp1
HG01192.hp2
HG01261.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02109.hp2
HG02135.hp1
HG02293.hp1
HG02486.hp1
HG02723.hp1
HG03017.hp2
HG03130.hp2
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03831.hp1
HG04204.hp2
HG04228.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18965.hp1
NA18967.hp2
NA18970.hp2
NA18971.hp2
NA18973.hp2
NA18977.hp1
NA18981.hp1
NA18982.hp2
NA18990.hp1
NA19004.hp2
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19077.hp2
NA19086.hp1
NA19089.hp1
NA19091.hp2
NA20300.hp2
NA20805.hp1
 intron_variant MODIFIER c.1280-180T>C
c.1280-180T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13153823
chr20:13153884 T
T
 C
C
 20 a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
others(17): Show 
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0045g0163
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0016g0147
a0002c0002t0031g0001
a0002c0002t0062g0280
 20 HG01168.hp1
HG01192.hp1
HG01255.hp1
others(17): Show 
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG02071.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02647.hp1
HG03017.hp1
HG04115.hp2
HG06807.hp1
NA18948.hp2
NA18956.hp1
NA18990.hp2
NA19043.hp1
NA19086.hp2
 intron_variant MODIFIER c.1280-119T>C
c.1280-119T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13153884
chr20:13153939 G
G
 A
A
 3 a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0059g0290
 3 HG01071.hp2
HG02015.hp2
NA19030.hp1
HG01071.hp2
HG02015.hp2
NA19030.hp1
 intron_variant MODIFIER c.1280-64G>A
c.1280-64G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 9/11 chr20 13153939
chr20:13154284 C
C
 G
G
 196 a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
others(193): Show 
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0229
a0001c0001t0004g0251
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0051g0075
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0003g0085
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0005t0048g0164
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0012t0023g0165
a0001c0014t0005g0083
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0026g0213
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0043g0193
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0005c0011t0023g0166
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 196 HG00140.hp1
HG00280.hp1
HG00323.hp1
others(193): Show 
HG00140.hp1
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18977.hp1
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA19001.hp2
NA19004.hp2
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19060.hp2
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1415+146C>G
c.1415+146C>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13154284
chr20:13154382 A
A
 T
T
 14 a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
others(11): Show 
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0009t0011g0161
 14 HG01106.hp2
HG01109.hp2
HG02280.hp1
others(11): Show 
HG01106.hp2
HG01109.hp2
HG02280.hp1
HG02486.hp2
HG02615.hp1
HG03195.hp1
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03540.hp2
NA18522.hp1
NA19030.hp2
NA19240.hp2
 intron_variant MODIFIER c.1415+244A>T
c.1415+244A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13154382
chr20:13154407 C
C
 T
T
 1 a0001c0001t0059g0290
a0001c0001t0059g0290
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.1415+269C>T
c.1415+269C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13154407
chr20:13154702 C
C
 T
T
 8 a0001c0001t0002g0003
a0001c0001t0002g0021
a0001c0001t0002g0031
others(5): Show 
a0001c0001t0002g0003
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0055
a0001c0001t0002g0067
a0001c0001t0003g0133
a0001c0004t0003g0174
a0001c0004t0003g0175
 8 NA18944.hp1
NA18957.hp1
NA18990.hp1
others(5): Show 
NA18944.hp1
NA18957.hp1
NA18990.hp1
NA19004.hp2
NA19063.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp2
 intron_variant MODIFIER c.1415+564C>T
c.1415+564C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13154702
chr20:13154720 C
C
 A
A
 3 a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0059g0290
 3 HG01071.hp2
HG02015.hp2
NA19030.hp1
HG01071.hp2
HG02015.hp2
NA19030.hp1
 intron_variant MODIFIER c.1415+582C>A
c.1415+582C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13154720
chr20:13154968 G
G
 T
T
 3 a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0059g0290
 3 HG01071.hp2
HG02015.hp2
NA19030.hp1
HG01071.hp2
HG02015.hp2
NA19030.hp1
 intron_variant MODIFIER c.1415+830G>T
c.1415+830G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13154968
chr20:13155007 C
C
 A
A
 1 a0001c0005t0016g0147
a0001c0005t0016g0147
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1415+869C>A
c.1415+869C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13155007
chr20:13155042 A
A
 C
C
 6 a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0054g0286
others(3): Show 
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0004t0040g0206
a0002c0002t0031g0001
 6 HG01168.hp1
HG01192.hp1
HG02258.hp2
others(3): Show 
HG01168.hp1
HG01192.hp1
HG02258.hp2
HG03017.hp1
HG04115.hp2
NA18948.hp2
 intron_variant MODIFIER c.1415+904A>C
c.1415+904A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13155042
chr20:13155396 A
A
 T
T
 42 a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
others(39): Show 
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0028g0249
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0014t0005g0083
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
 42 HG00642.hp2
HG00673.hp1
HG01069.hp1
others(39): Show 
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01123.hp1
HG01258.hp2
HG01496.hp2
HG01516.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02056.hp1
HG02135.hp2
HG02293.hp2
HG02451.hp2
HG03239.hp1
HG03831.hp2
NA18747.hp1
NA18943.hp1
NA18948.hp1
NA18949.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18985.hp1
NA18988.hp2
NA19001.hp2
NA19012.hp2
NA19060.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.1415+1258A>T
c.1415+1258A>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13155396
chr20:13155656 G
G
 C
C
 23 a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
others(20): Show 
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0016g0147
a0002c0002t0031g0001
a0002c0002t0062g0280
 23 HG01071.hp2
HG01168.hp1
HG01192.hp1
others(20): Show 
HG01071.hp2
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG02015.hp2
HG02071.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02647.hp1
HG03017.hp1
HG04115.hp2
HG06807.hp1
NA18948.hp2
NA18956.hp1
NA18990.hp2
NA19030.hp1
NA19043.hp1
NA19086.hp2
 intron_variant MODIFIER c.1415+1518G>C
c.1415+1518G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13155656
chr20:13155694 T
T
 TG
TG
 7 a0001c0001t0016g0136
a0001c0001t0027g0263
a0001c0001t0027g0268
others(4): Show 
a0001c0001t0016g0136
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0004t0016g0091
a0002c0002t0016g0114
a0002c0002t0035g0056
a0005c0010t0037g0167
 7 HG00639.hp1
HG00738.hp2
HG01168.hp2
others(4): Show 
HG00639.hp1
HG00738.hp2
HG01168.hp2
HG01515.hp1
HG01884.hp1
HG02630.hp2
HG03041.hp2
 intron_variant MODIFIER c.1415+1559dupG
c.1415+1559dupG
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 INFO_REALIGN_3_PRIME chr20 13155694
chr20:13155704 T
T
 G
G
 20 a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
others(17): Show 
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0045g0163
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0016g0147
a0002c0002t0031g0001
a0002c0002t0062g0280
 20 HG01168.hp1
HG01192.hp1
HG01255.hp1
others(17): Show 
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG02071.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02647.hp1
HG03017.hp1
HG04115.hp2
HG06807.hp1
NA18948.hp2
NA18956.hp1
NA18990.hp2
NA19043.hp1
NA19086.hp2
 intron_variant MODIFIER c.1415+1566T>G
c.1415+1566T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13155704
chr20:13155821 G
G
 A
A
 5 a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0004g0251
others(2): Show 
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0004g0251
a0001c0001t0008g0034
a0001c0001t0038g0189
 5 HG01261.hp1
HG01358.hp2
HG01975.hp1
others(2): Show 
HG01261.hp1
HG01358.hp2
HG01975.hp1
NA18973.hp2
NA19066.hp2
 intron_variant MODIFIER c.1415+1683G>A
c.1415+1683G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13155821
chr20:13155887 T
T
 C
C
 1 a0001c0001t0003g0123
a0001c0001t0003g0123
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.1415+1749T>C
c.1415+1749T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13155887
chr20:13155958 A
A
 G
G
 3 a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
 3 HG03654.hp2
HG03669.hp1
HG04199.hp2
HG03654.hp2
HG03669.hp1
HG04199.hp2
 intron_variant MODIFIER c.1415+1820A>G
c.1415+1820A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13155958
chr20:13156046 T
T
 A
A
 70 a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
others(67): Show 
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0005t0018g0084
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0034g0024
a0002c0002t0043g0193
a0002c0018t0002g0054
a0005c0010t0037g0167
a0008c0015t0002g0050
 70 HG00140.hp1
HG00323.hp2
HG00408.hp2
others(67): Show 
HG00140.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01167.hp1
HG01192.hp2
HG01261.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02109.hp2
HG02135.hp1
HG02293.hp1
HG02486.hp1
HG02723.hp1
HG03017.hp2
HG03130.hp2
HG03491.hp2
HG03516.hp1
HG03831.hp1
HG04204.hp2
HG04228.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18965.hp1
NA18967.hp2
NA18970.hp2
NA18971.hp2
NA18977.hp1
NA18981.hp1
NA18982.hp2
NA18990.hp1
NA19004.hp2
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19077.hp2
NA19086.hp1
NA19089.hp1
NA19091.hp2
NA20300.hp2
NA20805.hp1
 intron_variant MODIFIER c.1415+1908T>A
c.1415+1908T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13156046
chr20:13156067 C
C
 T
T
 20 a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
others(17): Show 
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0045g0163
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0016g0147
a0002c0002t0031g0001
a0002c0002t0062g0280
 20 HG01168.hp1
HG01192.hp1
HG01255.hp1
others(17): Show 
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG02071.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02647.hp1
HG03017.hp1
HG04115.hp2
HG06807.hp1
NA18948.hp2
NA18956.hp1
NA18990.hp2
NA19043.hp1
NA19086.hp2
 intron_variant MODIFIER c.1415+1929C>T
c.1415+1929C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13156067
chr20:13156742 A
A
 C
C
 2 a0001c0001t0044g0073
a0001c0001t0061g0274
a0001c0001t0044g0073
a0001c0001t0061g0274
 2 HG00741.hp2
NA20805.hp2
HG00741.hp2
NA20805.hp2
 intron_variant MODIFIER c.1415+2604A>C
c.1415+2604A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13156742
chr20:13156746 C
C
 T
T
 41 a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
others(38): Show 
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0028g0249
a0001c0003t0049g0077
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0014t0005g0083
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
 41 HG00642.hp2
HG00673.hp1
HG01069.hp1
others(38): Show 
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01258.hp2
HG01496.hp2
HG01516.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02056.hp1
HG02135.hp2
HG02293.hp2
HG02451.hp2
HG03239.hp1
HG03831.hp2
NA18747.hp1
NA18943.hp1
NA18948.hp1
NA18949.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18985.hp1
NA18988.hp2
NA19001.hp2
NA19012.hp2
NA19060.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.1415+2608C>T
c.1415+2608C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13156746
chr20:13156825 A
A
 C
C
 5 a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
others(2): Show 
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
 5 HG03209.hp2
HG03471.hp2
HG03486.hp1
others(2): Show 
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.1415+2687A>C
c.1415+2687A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13156825
chr20:13157083 C
C
 T
T
 20 a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
others(17): Show 
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0045g0163
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0016g0147
a0002c0002t0031g0001
a0002c0002t0062g0280
 20 HG01168.hp1
HG01192.hp1
HG01255.hp1
others(17): Show 
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG02071.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02647.hp1
HG03017.hp1
HG04115.hp2
HG06807.hp1
NA18948.hp2
NA18956.hp1
NA18990.hp2
NA19043.hp1
NA19086.hp2
 intron_variant MODIFIER c.1416-2920C>T
c.1416-2920C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13157083
chr20:13157138 G
G
 C
C
 1 a0001c0001t0001g0118
a0001c0001t0001g0118
 1 NA18959.hp2
NA18959.hp2
 intron_variant MODIFIER c.1416-2865G>C
c.1416-2865G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13157138
chr20:13157209 A
A
 G
G
 1 a0001c0001t0007g0216
a0001c0001t0007g0216
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.1416-2794A>G
c.1416-2794A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13157209
chr20:13157273 C
C
 CA
CA
 270 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
others(267): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0203
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0292
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0004g0219
a0001c0001t0004g0222
a0001c0001t0004g0225
a0001c0001t0004g0226
a0001c0001t0004g0229
a0001c0001t0004g0233
a0001c0001t0004g0234
a0001c0001t0004g0238
a0001c0001t0004g0242
a0001c0001t0004g0243
a0001c0001t0004g0247
a0001c0001t0004g0251
a0001c0001t0004g0266
a0001c0001t0004g0273
a0001c0001t0004g0288
a0001c0001t0004g0291
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0008g0005
a0001c0001t0008g0013
a0001c0001t0008g0034
a0001c0001t0008g0035
a0001c0001t0009g0111
a0001c0001t0009g0148
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0013g0058
a0001c0001t0013g0059
a0001c0001t0013g0060
a0001c0001t0014g0074
a0001c0001t0014g0116
a0001c0001t0014g0120
a0001c0001t0014g0146
a0001c0001t0016g0136
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0019g0053
a0001c0001t0019g0119
a0001c0001t0019g0160
a0001c0001t0021g0064
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0030g0261
a0001c0001t0033g0045
a0001c0001t0038g0189
a0001c0001t0039g0121
a0001c0001t0044g0073
a0001c0001t0045g0163
a0001c0001t0051g0075
a0001c0001t0053g0250
a0001c0001t0054g0286
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0001t0061g0274
a0001c0003t0005g0109
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0004t0001g0169
a0001c0004t0001g0176
a0001c0004t0001g0177
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0009g0139
a0001c0004t0009g0170
a0001c0004t0009g0185
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0014g0137
a0001c0004t0016g0091
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0004t0024g0178
a0001c0004t0024g0202
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0004t0065g0284
a0001c0005t0001g0080
a0001c0005t0001g0089
a0001c0005t0003g0085
a0001c0005t0004g0227
a0001c0005t0004g0235
a0001c0005t0004g0244
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0009g0079
a0001c0005t0009g0151
a0001c0005t0010g0231
a0001c0005t0016g0147
a0001c0005t0018g0084
a0001c0005t0025g0088
a0001c0005t0025g0097
a0001c0005t0030g0285
a0001c0005t0047g0068
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0001g0102
a0002c0002t0001g0190
a0002c0002t0001g0199
a0002c0002t0001g0212
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0200
a0002c0002t0004g0254
a0002c0002t0004g0255
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0008g0004
a0002c0002t0008g0006
a0002c0002t0008g0012
a0002c0002t0008g0017
a0002c0002t0008g0018
a0002c0002t0008g0044
a0002c0002t0008g0047
a0002c0002t0013g0041
a0002c0002t0016g0114
a0002c0002t0021g0065
a0002c0002t0026g0214
a0002c0002t0031g0001
a0002c0002t0034g0024
a0002c0002t0035g0056
a0002c0002t0036g0061
a0002c0002t0052g0087
a0002c0002t0062g0280
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0002c0018t0002g0054
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
a0005c0010t0037g0167
a0006c0016t0064g0248
a0007c0017t0013g0049
a0008c0015t0002g0050
 270 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(267): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19086.hp1
NA19086.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1416-2716dupA
c.1416-2716dupA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 INFO_REALIGN_3_PRIME chr20 13157273
chr20:13157273 C
C
 CAA
CAA
 16 a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
others(13): Show 
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0001t0046g0071
a0001c0001t0050g0101
a0001c0001t0055g0287
a0001c0001t0059g0290
a0001c0001t0063g0232
a0001c0003t0049g0077
a0001c0005t0048g0164
a0001c0012t0023g0165
a0002c0002t0003g0198
a0002c0002t0026g0213
a0005c0011t0023g0166
 16 HG01192.hp2
HG01243.hp1
HG01243.hp2
others(13): Show 
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG02055.hp2
HG02145.hp2
HG02451.hp1
HG02895.hp1
HG02895.hp2
HG03139.hp1
HG03239.hp2
HG03471.hp1
HG04115.hp2
NA18522.hp2
NA18961.hp2
NA19030.hp1
NA19043.hp2
 intron_variant MODIFIER c.1416-2717_1416-271
others(6): Show 
c.1416-2717_1416-2716dupAA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 INFO_REALIGN_3_PRIME chr20 13157273
chr20:13157289 T
T
 C
C
 7 a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
others(4): Show 
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0012t0023g0165
a0005c0011t0023g0166
 7 HG01243.hp1
HG02055.hp2
HG02145.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02145.hp2
HG02451.hp1
HG02895.hp2
HG03471.hp1
NA18522.hp2
 intron_variant MODIFIER c.1416-2714T>C
c.1416-2714T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13157289
chr20:13157332 G
G
 C
C
 1 a0007c0017t0013g0049
a0007c0017t0013g0049
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.1416-2671G>C
c.1416-2671G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13157332
chr20:13157664 GA
GA
 G
G
 19 a0001c0001t0002g0032
a0001c0003t0011g0082
a0001c0003t0011g0152
others(16): Show 
a0001c0001t0002g0032
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0058g0257
a0001c0003t0060g0267
a0001c0009t0011g0161
a0002c0002t0002g0007
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
 19 HG01106.hp2
HG01109.hp2
HG02074.hp1
others(16): Show 
HG01106.hp2
HG01109.hp2
HG02074.hp1
HG02280.hp1
HG02486.hp2
HG02615.hp1
HG03195.hp1
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03540.hp2
NA18522.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp2
NA19057.hp1
NA19070.hp1
NA19240.hp2
 intron_variant MODIFIER c.1416-2327delA
c.1416-2327delA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 INFO_REALIGN_3_PRIME chr20 13157664
chr20:13157731 T
T
 C
C
 2 a0001c0001t0018g0090
a0001c0005t0018g0084
a0001c0001t0018g0090
a0001c0005t0018g0084
 2 HG00140.hp1
HG00642.hp1
HG00140.hp1
HG00642.hp1
 intron_variant MODIFIER c.1416-2272T>C
c.1416-2272T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13157731
chr20:13157793 AT
AT
 A
A
 3 a0001c0001t0002g0015
a0001c0001t0002g0057
a0008c0015t0002g0050
a0001c0001t0002g0015
a0001c0001t0002g0057
a0008c0015t0002g0050
 3 NA18946.hp1
NA18949.hp1
NA19091.hp2
NA18946.hp1
NA18949.hp1
NA19091.hp2
 intron_variant MODIFIER c.1416-2207delT
c.1416-2207delT
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 INFO_REALIGN_3_PRIME chr20 13157793
chr20:13157804 G
G
 A
A
 1 a0001c0001t0003g0112
a0001c0001t0003g0112
 1 HG03017.hp2
HG03017.hp2
 intron_variant MODIFIER c.1416-2199G>A
c.1416-2199G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13157804
chr20:13157841 G
G
 A
A
 4 a0001c0001t0016g0136
a0001c0004t0016g0091
a0002c0002t0016g0114
others(1): Show 
a0001c0001t0016g0136
a0001c0004t0016g0091
a0002c0002t0016g0114
a0002c0002t0035g0056
 4 HG00639.hp1
HG00738.hp2
HG01168.hp2
others(1): Show 
HG00639.hp1
HG00738.hp2
HG01168.hp2
HG01515.hp1
 intron_variant MODIFIER c.1416-2162G>A
c.1416-2162G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13157841
chr20:13158333 T
T
 C
C
 20 a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
others(17): Show 
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0045g0163
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0016g0147
a0002c0002t0031g0001
a0002c0002t0062g0280
 20 HG01168.hp1
HG01192.hp1
HG01255.hp1
others(17): Show 
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG02071.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02647.hp1
HG03017.hp1
HG04115.hp2
HG06807.hp1
NA18948.hp2
NA18956.hp1
NA18990.hp2
NA19043.hp1
NA19086.hp2
 intron_variant MODIFIER c.1416-1670T>C
c.1416-1670T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13158333
chr20:13158358 C
C
 T
T
 7 a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
others(4): Show 
a0001c0001t0015g0218
a0001c0001t0015g0224
a0001c0001t0015g0256
a0001c0001t0015g0264
a0001c0001t0015g0265
a0001c0012t0023g0165
a0005c0011t0023g0166
 7 HG01243.hp1
HG02055.hp2
HG02145.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02145.hp2
HG02451.hp1
HG02895.hp2
HG03471.hp1
NA18522.hp2
 intron_variant MODIFIER c.1416-1645C>T
c.1416-1645C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13158358
chr20:13158367 C
C
 T
T
 70 a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
others(67): Show 
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0005t0018g0084
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0034g0024
a0002c0002t0043g0193
a0002c0018t0002g0054
a0008c0015t0002g0050
 70 HG00140.hp1
HG00323.hp2
HG00408.hp2
others(67): Show 
HG00140.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01167.hp1
HG01192.hp2
HG01261.hp2
HG01433.hp2
HG01884.hp2
HG01891.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02109.hp2
HG02135.hp1
HG02293.hp1
HG02486.hp1
HG02723.hp1
HG03017.hp2
HG03130.hp2
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03831.hp1
HG04204.hp2
HG04228.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18965.hp1
NA18967.hp2
NA18970.hp2
NA18971.hp2
NA18977.hp1
NA18981.hp1
NA18982.hp2
NA18990.hp1
NA19004.hp2
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19077.hp2
NA19086.hp1
NA19089.hp1
NA19091.hp2
NA20300.hp2
NA20805.hp1
 intron_variant MODIFIER c.1416-1636C>T
c.1416-1636C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13158367
chr20:13158591 G
G
 A
A
 3 a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
 3 HG03654.hp2
HG03669.hp1
HG04199.hp2
HG03654.hp2
HG03669.hp1
HG04199.hp2
 intron_variant MODIFIER c.1416-1412G>A
c.1416-1412G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13158591
chr20:13158596 C
C
 T
T
 3 a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0019g0160
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0019g0160
 3 HG01167.hp2
HG03225.hp2
NA19240.hp1
HG01167.hp2
HG03225.hp2
NA19240.hp1
 intron_variant MODIFIER c.1416-1407C>T
c.1416-1407C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13158596
chr20:13158647 G
G
 A
A
 1 a0001c0001t0016g0136
a0001c0001t0016g0136
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.1416-1356G>A
c.1416-1356G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13158647
chr20:13158928 C
C
 T
T
 1 a0002c0002t0036g0061
a0002c0002t0036g0061
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.1416-1075C>T
c.1416-1075C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13158928
chr20:13159090 G
G
 A
A
 1 a0001c0005t0047g0068
a0001c0005t0047g0068
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.1416-913G>A
c.1416-913G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13159090
chr20:13159174 T
T
 G
G
 22 a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
others(19): Show 
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0016g0147
a0002c0002t0031g0001
a0002c0002t0062g0280
 22 HG01071.hp2
HG01168.hp1
HG01192.hp1
others(19): Show 
HG01071.hp2
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG02015.hp2
HG02071.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02647.hp1
HG03017.hp1
HG04115.hp2
HG06807.hp1
NA18948.hp2
NA18956.hp1
NA18990.hp2
NA19043.hp1
NA19086.hp2
 intron_variant MODIFIER c.1416-829T>G
c.1416-829T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13159174
chr20:13159220 A
A
 G
G
 1 a0001c0005t0048g0164
a0001c0005t0048g0164
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.1416-783A>G
c.1416-783A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13159220
chr20:13159368 C
C
 T
T
 22 a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
others(19): Show 
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0016g0147
a0002c0002t0031g0001
a0002c0002t0062g0280
 22 HG01071.hp2
HG01168.hp1
HG01192.hp1
others(19): Show 
HG01071.hp2
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG02015.hp2
HG02071.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02647.hp1
HG03017.hp1
HG04115.hp2
HG06807.hp1
NA18948.hp2
NA18956.hp1
NA18990.hp2
NA19043.hp1
NA19086.hp2
 intron_variant MODIFIER c.1416-635C>T
c.1416-635C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13159368
chr20:13159392 T
T
 C
C
 9 a0001c0001t0001g0052
a0001c0001t0001g0156
a0001c0001t0001g0158
others(6): Show 
a0001c0001t0001g0052
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0292
a0001c0001t0004g0222
a0001c0001t0004g0226
a0001c0001t0004g0288
a0001c0001t0004g0291
a0002c0002t0001g0212
 9 HG02257.hp1
HG02630.hp1
HG02809.hp1
others(6): Show 
HG02257.hp1
HG02630.hp1
HG02809.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp2
HG03130.hp1
HG03139.hp2
HG03225.hp1
 intron_variant MODIFIER c.1416-611T>C
c.1416-611T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13159392
chr20:13159446 C
C
 T
T
 3 a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
a0001c0004t0009g0170
a0001c0004t0009g0207
a0001c0004t0009g0208
 3 HG01106.hp1
HG01346.hp2
HG04199.hp1
HG01106.hp1
HG01346.hp2
HG04199.hp1
 intron_variant MODIFIER c.1416-557C>T
c.1416-557C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13159446
chr20:13159625 A
A
 C
C
 20 a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
others(17): Show 
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0045g0163
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0005t0005g0069
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0016g0147
a0002c0002t0031g0001
a0002c0002t0062g0280
 20 HG01168.hp1
HG01192.hp1
HG01255.hp1
others(17): Show 
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG02071.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02647.hp1
HG03017.hp1
HG04115.hp2
HG06807.hp1
NA18948.hp2
NA18956.hp1
NA18990.hp2
NA19043.hp1
NA19086.hp2
 intron_variant MODIFIER c.1416-378A>C
c.1416-378A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13159625
chr20:13159626 G
G
 C
C
 1 a0001c0001t0055g0287
a0001c0001t0055g0287
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.1416-377G>C
c.1416-377G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13159626
chr20:13159671 A
A
 G
G
 1 a0001c0001t0004g0229
a0001c0001t0004g0229
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.1416-332A>G
c.1416-332A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13159671
chr20:13159784 C
C
 T
T
 11 a0001c0001t0005g0092
a0001c0001t0010g0220
a0001c0001t0012g0259
others(8): Show 
a0001c0001t0005g0092
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0033g0045
a0001c0001t0045g0163
a0001c0001t0056g0253
a0001c0004t0042g0184
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0016g0147
a0002c0002t0062g0280
 11 HG02071.hp1
HG02145.hp1
HG02257.hp2
others(8): Show 
HG02071.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02622.hp1
HG02647.hp1
NA18956.hp1
NA18990.hp2
NA19043.hp1
NA19086.hp2
 intron_variant MODIFIER c.1416-219C>T
c.1416-219C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13159784
chr20:13159796 T
T
 C
C
 13 a0001c0001t0005g0092
a0001c0001t0010g0220
a0001c0001t0012g0259
others(10): Show 
a0001c0001t0005g0092
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0004t0042g0184
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0016g0147
a0002c0002t0062g0280
 13 HG01071.hp2
HG02015.hp2
HG02071.hp1
others(10): Show 
HG01071.hp2
HG02015.hp2
HG02071.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02622.hp1
HG02647.hp1
NA18956.hp1
NA18990.hp2
NA19043.hp1
NA19086.hp2
 intron_variant MODIFIER c.1416-207T>C
c.1416-207T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13159796
chr20:13159880 T
T
 G
G
 17 a0001c0001t0005g0092
a0001c0001t0010g0220
a0001c0001t0012g0259
others(14): Show 
a0001c0001t0005g0092
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0033g0045
a0001c0001t0045g0163
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0056g0253
a0001c0004t0040g0206
a0001c0004t0042g0184
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0016g0147
a0002c0002t0031g0001
a0002c0002t0062g0280
 17 HG01168.hp1
HG01192.hp1
HG02071.hp1
others(14): Show 
HG01168.hp1
HG01192.hp1
HG02071.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02559.hp2
HG02622.hp1
HG02647.hp1
HG03017.hp1
HG04115.hp2
NA18948.hp2
NA18956.hp1
NA18990.hp2
NA19043.hp1
NA19086.hp2
 intron_variant MODIFIER c.1416-123T>G
c.1416-123T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13159880
chr20:13159886 TAAAAAAG
TAAAAAAG
 T
T
 3 a0001c0001t0001g0211
a0001c0001t0004g0238
a0001c0001t0019g0160
a0001c0001t0001g0211
a0001c0001t0004g0238
a0001c0001t0019g0160
 3 HG01167.hp2
HG02622.hp2
NA19240.hp1
HG01167.hp2
HG02622.hp2
NA19240.hp1
 intron_variant MODIFIER c.1416-96_1416-90del
others(7): Show 
c.1416-96_1416-90delGAAAAAA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 INFO_REALIGN_3_PRIME chr20 13159886
chr20:13159951 G
G
 T
T
 6 a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0054g0286
others(3): Show 
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0004t0040g0206
a0002c0002t0031g0001
 6 HG01168.hp1
HG01192.hp1
HG02258.hp2
others(3): Show 
HG01168.hp1
HG01192.hp1
HG02258.hp2
HG03017.hp1
HG04115.hp2
NA18948.hp2
 intron_variant MODIFIER c.1416-52G>T
c.1416-52G>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 10/11 chr20 13159951
chr20:13160631 G
G
 A
A
 1 a0001c0005t0009g0079
a0001c0005t0009g0079
 1 HG01978.hp2
HG01978.hp2
 intron_variant MODIFIER c.1545+499G>A
c.1545+499G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 chr20 13160631
chr20:13160667 C
C
 A
A
 2 a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0271
a0001c0003t0010g0272
 2 HG01069.hp1
HG01071.hp1
HG01069.hp1
HG01071.hp1
 intron_variant MODIFIER c.1545+535C>A
c.1545+535C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 chr20 13160667
chr20:13160700 T
T
 C
C
 1 a0002c0002t0031g0001
a0002c0002t0031g0001
 1 NA18948.hp2
NA18948.hp2
 intron_variant MODIFIER c.1545+568T>C
c.1545+568T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 chr20 13160700
chr20:13160729 G
G
 C
C
 2 a0001c0001t0039g0121
a0001c0001t0057g0281
a0001c0001t0039g0121
a0001c0001t0057g0281
 2 HG01071.hp2
HG02015.hp2
HG01071.hp2
HG02015.hp2
 intron_variant MODIFIER c.1545+597G>C
c.1545+597G>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 chr20 13160729
chr20:13160809 T
T
 C
C
 3 a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
 3 HG03654.hp2
HG03669.hp1
HG04199.hp2
HG03654.hp2
HG03669.hp1
HG04199.hp2
 intron_variant MODIFIER c.1545+677T>C
c.1545+677T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 chr20 13160809
chr20:13160850 A
A
 G
G
 20 a0001c0001t0005g0092
a0001c0001t0010g0220
a0001c0001t0012g0259
others(17): Show 
a0001c0001t0005g0092
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0016g0136
a0001c0001t0027g0263
a0001c0001t0027g0268
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0004t0016g0091
a0001c0004t0042g0184
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0016g0147
a0002c0002t0016g0114
a0002c0002t0035g0056
a0002c0002t0062g0280
a0005c0010t0037g0167
 20 HG00639.hp1
HG00738.hp2
HG01071.hp2
others(17): Show 
HG00639.hp1
HG00738.hp2
HG01071.hp2
HG01168.hp2
HG01515.hp1
HG01884.hp1
HG02015.hp2
HG02071.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG03041.hp2
NA18956.hp1
NA18990.hp2
NA19043.hp1
NA19086.hp2
 intron_variant MODIFIER c.1545+718A>G
c.1545+718A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 chr20 13160850
chr20:13161162 T
T
 C
C
 13 a0001c0001t0005g0092
a0001c0001t0010g0220
a0001c0001t0012g0259
others(10): Show 
a0001c0001t0005g0092
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0004t0042g0184
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0016g0147
a0002c0002t0062g0280
 13 HG01071.hp2
HG02015.hp2
HG02071.hp1
others(10): Show 
HG01071.hp2
HG02015.hp2
HG02071.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02622.hp1
HG02647.hp1
NA18956.hp1
NA18990.hp2
NA19043.hp1
NA19086.hp2
 intron_variant MODIFIER c.1545+1030T>C
c.1545+1030T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 chr20 13161162
chr20:13161254 T
T
 C
C
 1 a0001c0001t0001g0203
a0001c0001t0001g0203
 1 NA19000.hp1
NA19000.hp1
 intron_variant MODIFIER c.1545+1122T>C
c.1545+1122T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 chr20 13161254
chr20:13161333 G
G
 A
A
 2 a0001c0001t0063g0232
a0001c0005t0048g0164
a0001c0001t0063g0232
a0001c0005t0048g0164
 2 HG03139.hp1
NA19043.hp2
HG03139.hp1
NA19043.hp2
 intron_variant MODIFIER c.1545+1201G>A
c.1545+1201G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 chr20 13161333
chr20:13161480 G
G
 A
A
 2 a0001c0001t0001g0145
a0001c0001t0001g0182
a0001c0001t0001g0145
a0001c0001t0001g0182
 2 HG02132.hp2
NA19062.hp2
HG02132.hp2
NA19062.hp2
 intron_variant MODIFIER c.1545+1348G>A
c.1545+1348G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 chr20 13161480
chr20:13161519 C
C
 T
T
 13 a0001c0001t0005g0092
a0001c0001t0010g0220
a0001c0001t0012g0259
others(10): Show 
a0001c0001t0005g0092
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0004t0042g0184
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0016g0147
a0002c0002t0062g0280
 13 HG01071.hp2
HG02015.hp2
HG02071.hp1
others(10): Show 
HG01071.hp2
HG02015.hp2
HG02071.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02622.hp1
HG02647.hp1
NA18956.hp1
NA18990.hp2
NA19043.hp1
NA19086.hp2
 intron_variant MODIFIER c.1545+1387C>T
c.1545+1387C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 chr20 13161519
chr20:13161607 G
G
 A
A
 1 a0001c0001t0009g0148
a0001c0001t0009g0148
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.1545+1475G>A
c.1545+1475G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 chr20 13161607
chr20:13161724 A
A
 G
G
 13 a0001c0001t0005g0092
a0001c0001t0010g0220
a0001c0001t0012g0259
others(10): Show 
a0001c0001t0005g0092
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0004t0042g0184
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0016g0147
a0002c0002t0062g0280
 13 HG01071.hp2
HG02015.hp2
HG02071.hp1
others(10): Show 
HG01071.hp2
HG02015.hp2
HG02071.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02622.hp1
HG02647.hp1
NA18956.hp1
NA18990.hp2
NA19043.hp1
NA19086.hp2
 intron_variant MODIFIER c.1545+1592A>G
c.1545+1592A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 chr20 13161724
chr20:13161857 G
G
 A
A
 13 a0001c0001t0005g0092
a0001c0001t0010g0220
a0001c0001t0012g0259
others(10): Show 
a0001c0001t0005g0092
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0004t0042g0184
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0016g0147
a0002c0002t0062g0280
 13 HG01071.hp2
HG02015.hp2
HG02071.hp1
others(10): Show 
HG01071.hp2
HG02015.hp2
HG02071.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02622.hp1
HG02647.hp1
NA18956.hp1
NA18990.hp2
NA19043.hp1
NA19086.hp2
 intron_variant MODIFIER c.1545+1725G>A
c.1545+1725G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 chr20 13161857
chr20:13161936 G
G
 A
A
 1 a0001c0001t0001g0144
a0001c0001t0001g0144
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.1545+1804G>A
c.1545+1804G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 chr20 13161936
chr20:13162197 G
G
 A
A
 1 a0002c0002t0007g0278
a0002c0002t0007g0278
 1 HG02293.hp1
HG02293.hp1
 intron_variant MODIFIER c.1545+2065G>A
c.1545+2065G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 chr20 13162197
chr20:13162253 C
C
 T
T
 13 a0001c0001t0005g0092
a0001c0001t0010g0220
a0001c0001t0012g0259
others(10): Show 
a0001c0001t0005g0092
a0001c0001t0010g0220
a0001c0001t0012g0259
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0004t0042g0184
a0001c0005t0005g0081
a0001c0005t0010g0231
a0001c0005t0016g0147
a0002c0002t0062g0280
 13 HG01071.hp2
HG02015.hp2
HG02071.hp1
others(10): Show 
HG01071.hp2
HG02015.hp2
HG02071.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02622.hp1
HG02647.hp1
NA18956.hp1
NA18990.hp2
NA19043.hp1
NA19086.hp2
 intron_variant MODIFIER c.1545+2121C>T
c.1545+2121C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 chr20 13162253
chr20:13162345 T
T
 G
G
 1 a0001c0001t0004g0229
a0001c0001t0004g0229
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.1545+2213T>G
c.1545+2213T>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 chr20 13162345
chr20:13162486 T
T
 C
C
 1 a0002c0002t0007g0246
a0002c0002t0007g0246
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.1546-2268T>C
c.1546-2268T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 chr20 13162486
chr20:13162504 T
T
 C
C
 1 a0001c0001t0001g0099
a0001c0001t0001g0099
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.1546-2250T>C
c.1546-2250T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 chr20 13162504
chr20:13162560 C
C
 T
T
 5 a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0004g0251
others(2): Show 
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0004g0251
a0001c0001t0008g0034
a0001c0001t0038g0189
 5 HG01261.hp1
HG01358.hp2
HG01975.hp1
others(2): Show 
HG01261.hp1
HG01358.hp2
HG01975.hp1
NA18973.hp2
NA19066.hp2
 intron_variant MODIFIER c.1546-2194C>T
c.1546-2194C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 chr20 13162560
chr20:13162814 G
G
 A
A
 4 a0001c0001t0001g0203
a0001c0001t0004g0242
a0001c0001t0004g0243
others(1): Show 
a0001c0001t0001g0203
a0001c0001t0004g0242
a0001c0001t0004g0243
a0002c0002t0004g0254
 4 NA18944.hp2
NA19000.hp1
NA19001.hp1
others(1): Show 
NA18944.hp2
NA19000.hp1
NA19001.hp1
NA19057.hp2
 intron_variant MODIFIER c.1546-1940G>A
c.1546-1940G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 chr20 13162814
chr20:13162915 A
A
 C
C
 70 a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
others(67): Show 
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
a0001c0001t0012g0259
a0001c0001t0022g0129
a0001c0001t0022g0130
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0059g0290
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0132
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0040
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0282
a0001c0003t0010g0289
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0223
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0028g0249
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0003t0058g0257
a0001c0004t0040g0206
a0001c0005t0005g0069
a0001c0009t0005g0186
a0001c0009t0005g0204
a0001c0009t0011g0161
a0001c0014t0005g0083
a0002c0002t0031g0001
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0194
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0036
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0042
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0063
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
 70 HG00642.hp2
HG00673.hp1
HG01069.hp1
others(67): Show 
HG00642.hp2
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01258.hp2
HG01496.hp2
HG01516.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02056.hp1
HG02135.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02293.hp2
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG03017.hp1
HG03195.hp1
HG03209.hp2
HG03239.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
HG04199.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp1
NA18943.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18985.hp1
NA18988.hp2
NA19001.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19060.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA19240.hp2
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.1546-1839A>C
c.1546-1839A>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 chr20 13162915
chr20:13162937 C
C
 T
T
 3 a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0032g0022
 3 HG03654.hp2
HG03669.hp1
HG04199.hp2
HG03654.hp2
HG03669.hp1
HG04199.hp2
 intron_variant MODIFIER c.1546-1817C>T
c.1546-1817C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 chr20 13162937
chr20:13163025 C
C
 T
T
 1 a0001c0001t0001g0095
a0001c0001t0001g0095
 1 NA18968.hp1
NA18968.hp1
 intron_variant MODIFIER c.1546-1729C>T
c.1546-1729C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 chr20 13163025
chr20:13163094 G
G
 A
A
 70 a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
others(67): Show 
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0005t0018g0084
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0034g0024
a0002c0002t0043g0193
a0002c0018t0002g0054
a0008c0015t0002g0050
 70 HG00140.hp1
HG00323.hp2
HG00408.hp2
others(67): Show 
HG00140.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01167.hp1
HG01192.hp2
HG01261.hp2
HG01433.hp2
HG01884.hp2
HG01891.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02109.hp2
HG02135.hp1
HG02293.hp1
HG02486.hp1
HG02723.hp1
HG03017.hp2
HG03130.hp2
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03831.hp1
HG04204.hp2
HG04228.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18965.hp1
NA18967.hp2
NA18970.hp2
NA18971.hp2
NA18977.hp1
NA18981.hp1
NA18982.hp2
NA18990.hp1
NA19004.hp2
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19077.hp2
NA19086.hp1
NA19089.hp1
NA19091.hp2
NA20300.hp2
NA20805.hp1
 intron_variant MODIFIER c.1546-1660G>A
c.1546-1660G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 chr20 13163094
chr20:13163122 C
C
 T
T
 1 a0001c0001t0004g0229
a0001c0001t0004g0229
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.1546-1632C>T
c.1546-1632C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 chr20 13163122
chr20:13163300 G
G
 A
A
 2 a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0271
a0001c0003t0010g0272
 2 HG01069.hp1
HG01071.hp1
HG01069.hp1
HG01071.hp1
 intron_variant MODIFIER c.1546-1454G>A
c.1546-1454G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 chr20 13163300
chr20:13163359 C
C
 T
T
 1 a0001c0003t0012g0258
a0001c0003t0012g0258
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.1546-1395C>T
c.1546-1395C>T
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 chr20 13163359
chr20:13163367 C
C
 CA
CA
 45 a0001c0001t0001g0093
a0001c0001t0001g0143
a0001c0001t0004g0226
others(42): Show 
a0001c0001t0001g0093
a0001c0001t0001g0143
a0001c0001t0004g0226
a0001c0001t0005g0092
a0001c0001t0005g0128
a0001c0001t0010g0215
a0001c0001t0010g0220
a0001c0001t0061g0274
a0001c0001t0063g0232
a0001c0003t0005g0109
a0001c0003t0005g0122
a0001c0003t0005g0125
a0001c0003t0005g0168
a0001c0003t0005g0172
a0001c0003t0005g0183
a0001c0003t0006g0048
a0001c0003t0010g0236
a0001c0003t0010g0271
a0001c0003t0010g0272
a0001c0003t0010g0277
a0001c0003t0010g0289
a0001c0003t0028g0249
a0001c0003t0041g0107
a0001c0003t0049g0077
a0001c0005t0004g0235
a0001c0005t0005g0069
a0001c0005t0048g0164
a0001c0009t0005g0186
a0002c0006t0005g0086
a0002c0006t0005g0171
a0002c0006t0005g0191
a0002c0006t0005g0195
a0002c0006t0006g0016
a0002c0006t0006g0023
a0002c0006t0006g0028
a0002c0006t0006g0037
a0002c0006t0006g0039
a0002c0006t0006g0043
a0003c0007t0006g0002
a0003c0007t0006g0010
a0003c0007t0006g0020
a0003c0007t0006g0066
a0004c0008t0005g0140
a0004c0008t0006g0033
a0004c0008t0028g0276
 45 HG00621.hp2
HG00673.hp1
HG00741.hp2
others(42): Show 
HG00621.hp2
HG00673.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01123.hp1
HG01255.hp1
HG01496.hp2
HG01516.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG02056.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02293.hp2
HG02559.hp1
HG02897.hp1
HG03139.hp1
HG03239.hp1
HG06807.hp1
NA18943.hp1
NA18949.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18964.hp1
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18981.hp2
NA18985.hp1
NA18988.hp2
NA19000.hp2
NA19001.hp2
NA19012.hp2
NA19043.hp2
NA19060.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.1546-1364dupA
c.1546-1364dupA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 INFO_REALIGN_3_PRIME chr20 13163367
chr20:13163367 C
C
 CAA
CAA
 9 a0001c0001t0004g0229
a0001c0003t0005g0132
a0001c0003t0006g0040
others(6): Show 
a0001c0001t0004g0229
a0001c0003t0005g0132
a0001c0003t0006g0040
a0001c0003t0010g0282
a0001c0014t0005g0083
a0002c0006t0005g0194
a0002c0006t0006g0036
a0002c0006t0006g0042
a0003c0007t0006g0063
 9 HG00642.hp2
HG01258.hp2
HG01978.hp1
others(6): Show 
HG00642.hp2
HG01258.hp2
HG01978.hp1
HG02135.hp2
HG02451.hp2
HG03831.hp2
NA18747.hp1
NA18965.hp2
NA20300.hp1
 intron_variant MODIFIER c.1546-1365_1546-136
others(6): Show 
c.1546-1365_1546-1364dupAA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 INFO_REALIGN_3_PRIME chr20 13163367
chr20:13163367 CA
CA
 C
C
 28 a0001c0001t0001g0110
a0001c0001t0004g0219
a0001c0001t0008g0034
others(25): Show 
a0001c0001t0001g0110
a0001c0001t0004g0219
a0001c0001t0008g0034
a0001c0001t0012g0259
a0001c0001t0014g0120
a0001c0001t0021g0064
a0001c0001t0039g0121
a0001c0001t0054g0286
a0001c0001t0055g0287
a0001c0001t0057g0281
a0001c0001t0059g0290
a0001c0003t0011g0082
a0001c0003t0011g0152
a0001c0003t0011g0153
a0001c0003t0011g0154
a0001c0003t0011g0155
a0001c0003t0011g0162
a0001c0003t0012g0217
a0001c0003t0012g0245
a0001c0003t0012g0258
a0001c0003t0012g0262
a0001c0003t0058g0257
a0001c0005t0001g0080
a0001c0005t0016g0147
a0001c0009t0011g0161
a0002c0002t0031g0001
a0005c0010t0037g0167
a0007c0017t0013g0049
 28 HG01071.hp2
HG01106.hp2
HG01109.hp2
others(25): Show 
HG01071.hp2
HG01106.hp2
HG01109.hp2
HG01358.hp2
HG01884.hp1
HG01891.hp1
HG01975.hp1
HG02015.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02602.hp1
HG02809.hp2
HG03195.hp1
HG03209.hp2
HG03471.hp2
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp1
NA18522.hp1
NA18948.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.1546-1364delA
c.1546-1364delA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 INFO_REALIGN_3_PRIME chr20 13163367
chr20:13163367 CAAA
CAAA
 C
C
 65 a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
others(62): Show 
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0005t0018g0084
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0043g0193
a0002c0018t0002g0054
a0008c0015t0002g0050
 65 HG00140.hp1
HG00323.hp2
HG00408.hp2
others(62): Show 
HG00140.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01192.hp2
HG01261.hp2
HG01433.hp2
HG01884.hp2
HG01891.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02109.hp2
HG02135.hp1
HG02293.hp1
HG02486.hp1
HG02723.hp1
HG03017.hp2
HG03130.hp2
HG03491.hp2
HG03516.hp1
HG03831.hp1
HG04204.hp2
HG04228.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18965.hp1
NA18967.hp2
NA18970.hp2
NA18971.hp2
NA18977.hp1
NA18981.hp1
NA18982.hp2
NA18990.hp1
NA19004.hp2
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19057.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19077.hp2
NA19086.hp1
NA19089.hp1
NA19091.hp2
NA20300.hp2
NA20805.hp1
 intron_variant MODIFIER c.1546-1366_1546-136
others(7): Show 
c.1546-1366_1546-1364delAAA
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 INFO_REALIGN_3_PRIME chr20 13163367
chr20:13163391 T
T
 A
A
 2 a0001c0003t0029g0275
a0001c0003t0029g0283
a0001c0003t0029g0275
a0001c0003t0029g0283
 2 HG03654.hp2
HG03669.hp1
HG03654.hp2
HG03669.hp1
 intron_variant MODIFIER c.1546-1363T>A
c.1546-1363T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 chr20 13163391
chr20:13163404 G
G
 A
A
 2 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0149
a0001c0001t0001g0150
 2 HG02965.hp1
HG03516.hp2
HG02965.hp1
HG03516.hp2
 intron_variant MODIFIER c.1546-1350G>A
c.1546-1350G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 chr20 13163404
chr20:13163473 A
A
 G
G
 8 a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0045g0163
others(5): Show 
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0004t0042g0184
a0001c0005t0016g0147
a0002c0002t0062g0280
 8 HG01071.hp2
HG02015.hp2
HG02071.hp1
others(5): Show 
HG01071.hp2
HG02015.hp2
HG02071.hp1
HG02280.hp2
HG02559.hp2
NA18956.hp1
NA18990.hp2
NA19086.hp2
 intron_variant MODIFIER c.1546-1281A>G
c.1546-1281A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 chr20 13163473
chr20:13163496 A
A
 G
G
 8 a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0045g0163
others(5): Show 
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0004t0042g0184
a0001c0005t0016g0147
a0002c0002t0062g0280
 8 HG01071.hp2
HG02015.hp2
HG02071.hp1
others(5): Show 
HG01071.hp2
HG02015.hp2
HG02071.hp1
HG02280.hp2
HG02559.hp2
NA18956.hp1
NA18990.hp2
NA19086.hp2
 intron_variant MODIFIER c.1546-1258A>G
c.1546-1258A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 chr20 13163496
chr20:13163559 A
A
 G
G
 1 a0001c0001t0012g0259
a0001c0001t0012g0259
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.1546-1195A>G
c.1546-1195A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 chr20 13163559
chr20:13163616 T
T
 C
C
 8 a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0045g0163
others(5): Show 
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0004t0042g0184
a0001c0005t0016g0147
a0002c0002t0062g0280
 8 HG01071.hp2
HG02015.hp2
HG02071.hp1
others(5): Show 
HG01071.hp2
HG02015.hp2
HG02071.hp1
HG02280.hp2
HG02559.hp2
NA18956.hp1
NA18990.hp2
NA19086.hp2
 intron_variant MODIFIER c.1546-1138T>C
c.1546-1138T>C
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 chr20 13163616
chr20:13163699 A
A
 G
G
 73 a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
others(70): Show 
a0001c0001t0002g0003
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0021
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0001t0003g0070
a0001c0001t0003g0072
a0001c0001t0003g0076
a0001c0001t0003g0112
a0001c0001t0003g0113
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0131
a0001c0001t0003g0133
a0001c0001t0003g0135
a0001c0001t0003g0142
a0001c0001t0003g0157
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0192
a0001c0001t0007g0216
a0001c0001t0007g0221
a0001c0001t0007g0228
a0001c0001t0007g0230
a0001c0001t0007g0237
a0001c0001t0007g0239
a0001c0001t0007g0240
a0001c0001t0007g0241
a0001c0001t0007g0252
a0001c0001t0007g0269
a0001c0001t0007g0270
a0001c0001t0018g0090
a0001c0001t0018g0104
a0001c0001t0044g0073
a0001c0001t0061g0274
a0001c0004t0003g0094
a0001c0004t0003g0174
a0001c0004t0003g0175
a0001c0004t0017g0105
a0001c0004t0017g0201
a0001c0004t0017g0205
a0001c0005t0003g0085
a0001c0005t0018g0084
a0002c0002t0002g0007
a0002c0002t0002g0008
a0002c0002t0002g0009
a0002c0002t0002g0014
a0002c0002t0002g0019
a0002c0002t0002g0025
a0002c0002t0002g0026
a0002c0002t0002g0027
a0002c0002t0002g0029
a0002c0002t0002g0030
a0002c0002t0002g0038
a0002c0002t0002g0046
a0002c0002t0002g0051
a0002c0002t0002g0062
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0198
a0002c0002t0003g0200
a0002c0002t0007g0246
a0002c0002t0007g0260
a0002c0002t0007g0278
a0002c0002t0007g0279
a0002c0002t0034g0024
a0002c0002t0043g0193
a0002c0018t0002g0054
a0008c0015t0002g0050
 73 HG00140.hp1
HG00323.hp2
HG00408.hp2
others(70): Show 
HG00140.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01123.hp2
HG01167.hp1
HG01192.hp2
HG01261.hp2
HG01433.hp2
HG01884.hp2
HG01891.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02109.hp2
HG02135.hp1
HG02293.hp1
HG02486.hp1
HG02723.hp1
HG03017.hp2
HG03130.hp2
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03831.hp1
HG04204.hp2
HG04228.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18965.hp1
NA18967.hp2
NA18970.hp2
NA18971.hp2
NA18977.hp1
NA18981.hp1
NA18982.hp2
NA18990.hp1
NA19004.hp2
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19077.hp2
NA19086.hp1
NA19089.hp1
NA19091.hp2
NA20300.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.1546-1055A>G
c.1546-1055A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 chr20 13163699
chr20:13163905 T
T
 A
A
 7 a0001c0001t0002g0011
a0002c0002t0002g0030
a0002c0002t0003g0196
others(4): Show 
a0001c0001t0002g0011
a0002c0002t0002g0030
a0002c0002t0003g0196
a0002c0002t0007g0279
a0002c0002t0034g0024
a0002c0002t0043g0193
a0002c0018t0002g0054
 7 HG00438.hp1
NA18945.hp1
NA18954.hp2
others(4): Show 
HG00438.hp1
NA18945.hp1
NA18954.hp2
NA18961.hp1
NA18965.hp1
NA19062.hp1
NA19086.hp1
 intron_variant MODIFIER c.1546-849T>A
c.1546-849T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 chr20 13163905
chr20:13163952 G
G
 A
A
 1 a0001c0003t0029g0283
a0001c0003t0029g0283
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.1546-802G>A
c.1546-802G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 chr20 13163952
chr20:13164131 T
T
 A
A
 7 a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0045g0163
others(4): Show 
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0004t0042g0184
a0002c0002t0062g0280
 7 HG01071.hp2
HG02015.hp2
HG02071.hp1
others(4): Show 
HG01071.hp2
HG02015.hp2
HG02071.hp1
HG02559.hp2
NA18956.hp1
NA18990.hp2
NA19086.hp2
 intron_variant MODIFIER c.1546-623T>A
c.1546-623T>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 chr20 13164131
chr20:13164331 C
C
 A
A
 1 a0001c0001t0004g0266
a0001c0001t0004g0266
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.1546-423C>A
c.1546-423C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 chr20 13164331
chr20:13164335 A
A
 G
G
 3 a0001c0001t0027g0263
a0001c0001t0027g0268
a0005c0010t0037g0167
a0001c0001t0027g0263
a0001c0001t0027g0268
a0005c0010t0037g0167
 3 HG01884.hp1
HG02630.hp2
HG03041.hp2
HG01884.hp1
HG02630.hp2
HG03041.hp2
 intron_variant MODIFIER c.1546-419A>G
c.1546-419A>G
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 chr20 13164335
chr20:13164367 G
G
 A
A
 1 a0001c0003t0011g0162
a0001c0003t0011g0162
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.1546-387G>A
c.1546-387G>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 chr20 13164367
chr20:13164651 C
C
 A
A
 7 a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0045g0163
others(4): Show 
a0001c0001t0033g0045
a0001c0001t0039g0121
a0001c0001t0045g0163
a0001c0001t0056g0253
a0001c0001t0057g0281
a0001c0004t0042g0184
a0002c0002t0062g0280
 7 HG01071.hp2
HG02015.hp2
HG02071.hp1
others(4): Show 
HG01071.hp2
HG02015.hp2
HG02071.hp1
HG02559.hp2
NA18956.hp1
NA18990.hp2
NA19086.hp2
 intron_variant MODIFIER c.1546-103C>A
c.1546-103C>A
SPTLC3 ENSG00000172296.13 transcript ENST00000399002.7 protein_coding 11/11 chr20 13164651

  • 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.